SHM is pushing back against the Centers for Medicare & Medicaid Services’ (CMS) proposed rule [PDF] to extend to 10 years the "look-back period" for potential Medicare overpayments to providers.

Last month, SHM sent a letter [PDF] to Marilyn Tavenner, acting CMS administrator, calling for the look-back period to be halved to five years. SHM president Shaun Frost, MD, SFHM, FACP, wrote that the extended time frame could be problematic for hospitalists and other physicians.

"SHM was compelled to provide guidance on behalf of its members to protect them from the undue burden proposed in the Reporting and Returning of Overpayments rule," says SHM CEO Larry Wellikson, MD, SFHM. "Though SHM supports the goal of reducing overpayment, asking hospitalists and their hospitals to look back through 10 years of records to identify areas of overpayment is unreasonable."

CMS announced that the 10-year period was chosen to coincide with the statute of limitations of the False Claims Act. But SHM leaders note that most laws governing Medicare overpayments generally don’t exceed six years. Potential problems with the extended audit period include physicians who have moved on from a job and "may no longer have access to the documentation necessary for an adequate 10-year audit," according to the letter.

SHM also is pushing for CMS to include a calculation of "burdens and costs associated" with the extended look-back period in the proposed rule.

"SHM believes a measurement of the cost for all providers to perform a full 10-year audit would more fully illustrate the extent of the burden presented by the proposed look back period," Dr. Frost wrote in the letter.

SHM is pushing back against the Centers for Medicare & Medicaid Services’ (CMS) proposed rule [PDF] to extend to 10 years the "look-back period" for potential Medicare overpayments to providers.

Last month, SHM sent a letter [PDF] to Marilyn Tavenner, acting CMS administrator, calling for the look-back period to be halved to five years. SHM president Shaun Frost, MD, SFHM, FACP, wrote that the extended time frame could be problematic for hospitalists and other physicians.

"SHM was compelled to provide guidance on behalf of its members to protect them from the undue burden proposed in the Reporting and Returning of Overpayments rule," says SHM CEO Larry Wellikson, MD, SFHM. "Though SHM supports the goal of reducing overpayment, asking hospitalists and their hospitals to look back through 10 years of records to identify areas of overpayment is unreasonable."

CMS announced that the 10-year period was chosen to coincide with the statute of limitations of the False Claims Act. But SHM leaders note that most laws governing Medicare overpayments generally don’t exceed six years. Potential problems with the extended audit period include physicians who have moved on from a job and "may no longer have access to the documentation necessary for an adequate 10-year audit," according to the letter.

SHM also is pushing for CMS to include a calculation of "burdens and costs associated" with the extended look-back period in the proposed rule.

"SHM believes a measurement of the cost for all providers to perform a full 10-year audit would more fully illustrate the extent of the burden presented by the proposed look back period," Dr. Frost wrote in the letter.

SHM is pushing back against the Centers for Medicare & Medicaid Services’ (CMS) proposed rule [PDF] to extend to 10 years the "look-back period" for potential Medicare overpayments to providers.

Last month, SHM sent a letter [PDF] to Marilyn Tavenner, acting CMS administrator, calling for the look-back period to be halved to five years. SHM president Shaun Frost, MD, SFHM, FACP, wrote that the extended time frame could be problematic for hospitalists and other physicians.

"SHM was compelled to provide guidance on behalf of its members to protect them from the undue burden proposed in the Reporting and Returning of Overpayments rule," says SHM CEO Larry Wellikson, MD, SFHM. "Though SHM supports the goal of reducing overpayment, asking hospitalists and their hospitals to look back through 10 years of records to identify areas of overpayment is unreasonable."

CMS announced that the 10-year period was chosen to coincide with the statute of limitations of the False Claims Act. But SHM leaders note that most laws governing Medicare overpayments generally don’t exceed six years. Potential problems with the extended audit period include physicians who have moved on from a job and "may no longer have access to the documentation necessary for an adequate 10-year audit," according to the letter.

SHM also is pushing for CMS to include a calculation of "burdens and costs associated" with the extended look-back period in the proposed rule.

"SHM believes a measurement of the cost for all providers to perform a full 10-year audit would more fully illustrate the extent of the burden presented by the proposed look back period," Dr. Frost wrote in the letter.

Supplement Editors:
Nathan Pennell, MD, PhD, and Peter Mazzone, MD

Contents

Lung cancer screening: Examining the issues
Peter Mazzone

Treatment implication of the new lung cancer staging system
Cristina P. Rodriguez

Bronchoscopy and endobronchial ultrasound for diagnosis and staging of lung cancer
Francisco Aécio Almeida

Preoperative evaluation of the lung resection candidate
Peter Mazzone

Video-assisted thoracoscopic surgery for the treatment of lung cancer
Sudish Murthy

Stereotactic body radiotherapy for stage I non–small cell lung cancer
Kevin Stephans

Locally advanced non–small cell lung cancer: What is the optimal concurrent chemoradiation regimen?
Gregory M.M. Videtic

The role of surgery for locally advanced non–small cell lung cancer
David P. Mason

The role of adjuvant chemotherapy in early-stage and locally advanced non–small cell lung cancer
Marc Shapiro

Selection of chemotherapy for patients with advanced non–small cell lung cancer
Nathan A. Pennell

The emerging role of palliative medicine in the treatment of lung cancer patients
Mellar P. Davis

Personalized targeted therapy in advanced non–small cell lung cancer
Patrick C. Ma

Supplement Editors:
Nathan Pennell, MD, PhD, and Peter Mazzone, MD

Contents

Lung cancer screening: Examining the issues
Peter Mazzone

Treatment implication of the new lung cancer staging system
Cristina P. Rodriguez

Bronchoscopy and endobronchial ultrasound for diagnosis and staging of lung cancer
Francisco Aécio Almeida

Preoperative evaluation of the lung resection candidate
Peter Mazzone

Video-assisted thoracoscopic surgery for the treatment of lung cancer
Sudish Murthy

Stereotactic body radiotherapy for stage I non–small cell lung cancer
Kevin Stephans

Locally advanced non–small cell lung cancer: What is the optimal concurrent chemoradiation regimen?
Gregory M.M. Videtic

The role of surgery for locally advanced non–small cell lung cancer
David P. Mason

The role of adjuvant chemotherapy in early-stage and locally advanced non–small cell lung cancer
Marc Shapiro

Selection of chemotherapy for patients with advanced non–small cell lung cancer
Nathan A. Pennell

The emerging role of palliative medicine in the treatment of lung cancer patients
Mellar P. Davis

Personalized targeted therapy in advanced non–small cell lung cancer
Patrick C. Ma

Supplement Editors:
Nathan Pennell, MD, PhD, and Peter Mazzone, MD

Contents

Lung cancer screening: Examining the issues
Peter Mazzone

Treatment implication of the new lung cancer staging system
Cristina P. Rodriguez

Bronchoscopy and endobronchial ultrasound for diagnosis and staging of lung cancer
Francisco Aécio Almeida

Preoperative evaluation of the lung resection candidate
Peter Mazzone

Video-assisted thoracoscopic surgery for the treatment of lung cancer
Sudish Murthy

Stereotactic body radiotherapy for stage I non–small cell lung cancer
Kevin Stephans

Locally advanced non–small cell lung cancer: What is the optimal concurrent chemoradiation regimen?
Gregory M.M. Videtic

The role of surgery for locally advanced non–small cell lung cancer
David P. Mason

The role of adjuvant chemotherapy in early-stage and locally advanced non–small cell lung cancer
Marc Shapiro

Selection of chemotherapy for patients with advanced non–small cell lung cancer
Nathan A. Pennell

The emerging role of palliative medicine in the treatment of lung cancer patients
Mellar P. Davis

Personalized targeted therapy in advanced non–small cell lung cancer
Patrick C. Ma

Series Editor: Eric D. Jacobsen, MD

Chronic lymphocytic leukemia (CLL) is the most common hematologic malignancy in the Western world, representing 30% of leukemias. The median age at diagnosis is 72 years, and fewer than 10% of patients are under 60. CLL occurs more frequently in Caucasians than in other ethnic groups and more often in men than in women. The age-adjusted incidence rate is 4.2 per 100,000 population. Although CLL is generally considered indolent, it is a heterogeneous disease, and while many patients have slowly progressive disease, a proportion of patients have disease that will have a more aggressive course, requiring treatment soon after diagnosis. Over the past 3 decades, increasing knowledge about the mechanism of CLL and the introduction of new chemotherapeutic and biologic agents has led to better treatments, improved risk stratification, and more durable remissions. Despite these advances in treatment, CLL remains incurable outside the setting of hematopoietic stem cell transplant.

To read the full article in PDF:

Click here

Series Editor: Eric D. Jacobsen, MD

Chronic lymphocytic leukemia (CLL) is the most common hematologic malignancy in the Western world, representing 30% of leukemias. The median age at diagnosis is 72 years, and fewer than 10% of patients are under 60. CLL occurs more frequently in Caucasians than in other ethnic groups and more often in men than in women. The age-adjusted incidence rate is 4.2 per 100,000 population. Although CLL is generally considered indolent, it is a heterogeneous disease, and while many patients have slowly progressive disease, a proportion of patients have disease that will have a more aggressive course, requiring treatment soon after diagnosis. Over the past 3 decades, increasing knowledge about the mechanism of CLL and the introduction of new chemotherapeutic and biologic agents has led to better treatments, improved risk stratification, and more durable remissions. Despite these advances in treatment, CLL remains incurable outside the setting of hematopoietic stem cell transplant.

To read the full article in PDF:

Click here

Series Editor: Eric D. Jacobsen, MD

Chronic lymphocytic leukemia (CLL) is the most common hematologic malignancy in the Western world, representing 30% of leukemias. The median age at diagnosis is 72 years, and fewer than 10% of patients are under 60. CLL occurs more frequently in Caucasians than in other ethnic groups and more often in men than in women. The age-adjusted incidence rate is 4.2 per 100,000 population. Although CLL is generally considered indolent, it is a heterogeneous disease, and while many patients have slowly progressive disease, a proportion of patients have disease that will have a more aggressive course, requiring treatment soon after diagnosis. Over the past 3 decades, increasing knowledge about the mechanism of CLL and the introduction of new chemotherapeutic and biologic agents has led to better treatments, improved risk stratification, and more durable remissions. Despite these advances in treatment, CLL remains incurable outside the setting of hematopoietic stem cell transplant.

To read the full article in PDF:

Click here

The concept of the patient-centered medical home began as a solution for children with multiple chronic conditions.¹ It has since been touted as a solution for all patients with chronic diseases, for problems with continuity of care, for restructuring primary care flow, for quality and safety, and for reining in cost.^2–4 The key to the medical home concept is that the primary care provider helps to coordinate a patient’s care across a variety of settings and specialists and that patients are active participants in their own care. The National Committee for Quality Assurance (NCQA) is a nonprofit organization that certifies a practice as a medical home.

Regardless of whether one accepts all of these potential wide-ranging benefits, the process of becoming a patient-centered medical home can help to transform your practice and provide benefits to patients and staff alike.^4,5

This review outlines the background of the patient-centered medical home and details some of the building blocks needed to get started on the NCQA certification process. It also describes the process of choosing the three required and clinically important conditions geared to an older patient population. We then describe the “must-pass” standards in detail, highlight specific geriatric issues, and outline the final submission process.

WHY EXTEND THE MEDICAL HOME CONCEPT TO GERIATRICS?

Although this concept began in pediatrics, it is also well suited for geriatrics. Its features include many that have long been the mainstay of geriatric care: whole-person orientation; partnerships between providers, patients, and families; coordinated and integrated care; enhanced access; a focus on quality; and a focus on management of chronic diseases.²

Traditionally, the management of chronic disease has focused on diseases such as diabetes and congestive heart failure. These diseases have evidence-based interventions, available metrics, and known benefits for both cost and patient outcomes.

However, many of these measures of quality were derived from studies of middle-aged patients with few comorbidities, and they do not necessarily apply to the geriatric population. Moreover, these studies generally do not address functional status, the time frame for expected benefit vs projected life expectancy, the risk-benefit ratio related to managing these conditions, or the patient’s own values and goals.

Therefore, “quality-care” interventions that work well for younger adults may actually harm frail elderly patients.⁶ An important aspect of building a geriatric medical home is making sure that the changes you implement in care and quality improvement will actually benefit your patients.

WHY WORK TOWARD CERTIFICATION?

In reviewing all the steps involved and the tremendous work required for a successful geriatric medical home, it is worth asking the question: Why work toward NCQA patient-centered medical home certification?

In the end, the goal of undertaking this project is to provide patient care in a way that is comprehensive and efficient. This is the same goal we have always strived for in geriatrics, but now we have an opportunity to measure it and to receive recognition for our work.

In the process of preparing for this application, the practice will have the opportunity to reexamine many of its processes of care, to discover deficits, and to address them. This is something that should be done continuously on some level in any good office practice on a regular basis; the patient-centered medical home application just intensifies the process.

Taking into account the needs of your practice’s geriatric population is a critical component of how one structures the patient-centered medical home. The need to take into account the frail elderly population with limited life expectancy and the lack of evidenced-based data in some areas changes how we manage many chronic illnesses. Geriatrics should take the lead in creating appropriate quality measures for this patient population. Incorporating these concepts into the medical home model is the right way to create a geriatric medical home and helps to lend validity to this concept to insurers and national organizations.

GETTING STARTED

Before getting started, it is important to have adequate support systems in place.

Go electronic. Although the NCQA provides chart-audit tools to facilitate the examination of patient subsets, it is extremely difficult to obtain medical home certification without an electronic health record system. You need to be able to collect and analyze data on your patients, their outcomes, their satisfaction, and other variables important to the practice’s patient population. It is also critical to have personnel with good computer skills, to have administrative support, and to have adequate staffing to support the processes to be put in place.

Talk to major health insurance providers in your area to see if they are interested in supporting your practice. Insurers have a vested interest in their members’ care, and they may have resources to assist with the medical home application.

Learn more. The NCQA provides seminars, online programs (www.ncqa.org/tabid/631/default.aspx), and full-length conferences. These courses provide real examples of documentation that demonstrated compliance with the standards as well as examples of documentation that failed. Learning how to create detailed documentation for the NCQA elements is important.

A good overall resource is the free user’s guide that is available from NCQA. This publication contains step-by-step screen shots to assist in navigating the survey tool, linking documents, and submitting the final survey. Several other organizations have online resources to assist with this process, including the American College of Physicians’ Medical Home Builder (www.acponline.org/running_practice/pcmh/help.htm).⁷

Gather your documents. The application can be ordered at www.ncqa.org. You can also apply online, and users must purchase a license for the Web application. Final submission of an application involves the following items:

• A completed business associates agreement and the patient-centered medical home recognition program agreement
• A practice profile of all physicians
• The online application form
• The application fee, which ranges from $500 to $4,000, based on the number of physicians in the practice.

Get everyone on board. Most important at this juncture is getting “buy-in.” Studies have shown that becoming a patient-centered medical home requires transformation of the entire practice, including physicians and staff. Shared leadership and protected group reflection time are also helpful.⁸

In embarking on this journey, the practice should set goals and a realistic time line with an understanding that this is a long and laborious process.

The reward of this major undertaking is the opportunity to examine every aspect of how your practice delivers care and to make meaningful improvements where needed. Practices should not make the mistake of just trying to meet the standards without actually improving quality.

CHOOSE THREE IMPORTANT CONDITIONS FOR QUALITY IMPROVEMENT

One of the most important first steps is to choose three “important” clinical conditions that will be the focus of quality improvement. According to the NCQA, important conditions include unhealthy behaviors, substance abuse, and mental health issues with evidence-based clinical guidelines that affect a large number of people or that consume a disproportionate amount of health care resources.⁹

The health care providers in your practice should all agree that the chosen conditions are important both to themselves and to their patients and that the proposed interventions will improve the quality of care. At the same time, the conditions and measures of quality need to be relatively easy to define and measure.

The 2011 standards require that at least one of the conditions be related to an unhealthy behavior (eg, obesity, smoking), a mental health issue (eg, depression, anxiety, Alzheimer disease), or substance abuse.

How can quality of care be measured in frail elderly patients?

A special consideration in geriatrics is the frailty of our patients and their limited life expectancy. Chronic care management has not been well studied in the frail elderly, and the benefits of controlling various markers of a chronic illness—for example, diabetes—all have differing time horizons that, depending on patient prognosis, may never be realized.

For some chronic diseases, the practice may need to develop new quality measures that are appropriate for its patient population. These measures must be evidence-based, or, where evidence is lacking, expert consensus must be attained. The American Geriatrics Society has several clinical practice guidelines, including the treatment of diabetes in older persons, the prevention of falls, and the pharmacologic management of persistent pain.¹⁰

Another option is to rely on the traditional Healthcare Effectiveness Data and Information Set quality measures for your chosen chronic condition, but to target appropriate patients for the interventions. One way to do this is to incorporate a prognostic indicator such as the Vulnerable Elders Survey¹¹ or gait speed¹² into your office flow so that you can categorize patients into groups and then target interventions.

One more option is to choose a geriatric syndrome that is equally relevant to all your geriatric patients regardless of frailty. However, you must be able to measure aspects of the syndrome and have interventions that will improve specific outcomes.

SETTING PRIORITIES

At the outset, it is important to review the NCQA’s standards for a patient-centered medical home and to identify standards for which you have appropriate processes in place, standards in which you are deficient but which can be fixed, and standards that will be more difficult to address.

One way to do this is to complete the Web-based self-assessment survey, which provides a score by element. Each deficiency discovered is an opportunity to brainstorm solutions and to embark upon a rapid cycle of improvement (“plan, do, study, act”).¹³ Deficiencies should be tackled over time, however, to avoid overwhelming the practice. It is particularly helpful to create small work-groups, to assign tasks with definite deadlines, and to meet regularly to review progress and assign new tasks.

The NCQA released new standards in 2011. A new requirement is that the practice’s electronic health record system must incorporate Meaningful Use Criteria of the Centers for Medicare and Medicaid Services (CMS). These criteria show that the practice is using the electronic health record effectively. As a result, attaining medical home certification will ensure that the practice also meets CMS Meaningful Use Criteria.

Six standards for a patient-centered medical home

The NCQA has six standards for a patient-centered medical home, which align with the core components of primary care¹⁴:

• Standard 1: Enhance access and continuity
• Standard 2: Identify and manage patient populations
• Standard 3: Plan and manage care
• Standard 4: Provide self-care support and community resources
• Standard 5: Track and coordinate care
• Standard 6: Measure and improve performance.

Each of these standards is broken down into elements, designated A, B, C, and so on—27 in all. Each element is scored on the basis of the number of “factors” the practice meets in each element. For example, element E in standard 1 has four factors, and the practice will receive 100% of the two possible points if all four factors are met, 50% of all points if the practice meets two factors, and no points if the practice meets none of the factors.

NCQA now designates a “critical factor” for some elements. These are factors thought to be “central to the concept being assessed within particular elements,”⁹ and they must be met to score any points for the element. In the same element as above, for example, having regular team meetings or a structured communication process is designated as a critical factor. A practice must meet this factor in order to achieve any of the four points assigned to the element.

SIX ‘MUST-PASS’ ELEMENTS

Of the 27 elements, six are considered essential, and the practice must get a score of at least 50% in all six of these to pass. Since they are the most critical elements, it is often useful to focus on them first to ensure that your practice puts into place policies and other building blocks necessary to make these important elements happen.

Policies must be in place for at least 3 months before submission. Most practices will discover many unwritten workflows as they review these processes.

What follows is a summary of the must-pass elements and their requirements. This is meant to be used only as an overview to better understand the scope of the medical home requirements; the actual requirements should be obtained from the NCQA Web site.

Standard 1, element A: Provide timely access during office hours

This element requires that your office have a policy or process in place for patient access. Same-day appointment availability is deemed a critical factor and must be met to receive any score on the whole element.

The practice needs to measure availability for several different appointment types—new, urgent, and routine—and show that same-day access is available. This can be done by completing at least a 5-day audit measuring the length of time from when a patient contacts the practice to request an appointment to the third next available appointment on his or her clinician’s schedule. It is not enough to simply double-book patients in an already full schedule.

The remaining aspects of this element require being able to provide timely clinical advice by telephone or by secure electronic messages, or both, during office hours, and to document it. The practice must have policies in place that define “timely.” It also must audit phone calls to prove adherence to that policy. The audit should cover at least 5 days. The practice then needs to show at least three examples of clinical advice documented in patients’ charts. We recommend not monitoring all the components during the same week, since the monitoring is laborious and would be overwhelming if attempted all at once.

This element requires that your practice be able to generate lists of patients and send out reminders of needed services; both are also CMS Meaningful Use Criteria.

Specifically, the NCQA requires that you be able to generate lists of patients’ preventive care and chronic care services and be able to reach out to patients who have deficiencies. The practice must target at least three preventive care services and at least three chronic care services.

One can (and should) link this element to the three important conditions that have been chosen for the practice. For example, if osteoporosis is one of the important conditions, it also can be one of the three preventive care services; a possible quality improvement intervention could be to send reminders to patients to have bone density screening if they have not done so within a certain time frame.

In addition, the practice should have the ability to generate a list of patients who have not been seen at an appropriate interval, as well as a list of patients who are taking certain medications that require regular monitoring. To complete the audit, the practice must produce the four lists just described. Each must then be examined for the previous 12-month period, and documentation must be provided to show how patients with deficiencies were contacted.

Local insurance health plans may be able to help with this element, as these types of lists are often standard practice. Submitting the health plans’ lists is acceptable as long as you can show that they account for at least 75% of the practice.

Standard 3, element C: Manage care for your three conditions

This element focuses on the three clinically important chronic conditions you have chosen. It demonstrates that your practice is following these patients’ outcomes and targeting patients who require more attention to improve their outcomes. Doing so requires documenting pre-visit planning and individualized care plans and treatment goals.

The patient or the family, or both, should be given a written plan of care and a clinical summary at each visit. Barriers to progress need to be assessed, and patients should be contacted if they do not come to scheduled appointments. Patients who have significant barriers should be assessed for additional care management support. This is particularly important for a geriatric population, which may have significant psychosocial barriers such as financial problems, transportation issues, cognitive decline, and overall lack of support.

For each factor in this element, the office must create policies and protocols and assign tasks to appropriate members of the care team. For example, a nurse can make phone calls to targeted patients before their appointments to review goals of care using a standardized form. The form can be given to the physician at the time of the appointment for review and incorporation into the medical record.

Documentation for this element requires that the practice evaluate the number of patients with each chronic condition (the denominator) and the number of patients in each group for whom the above standards have been completed (the numerator) over the previous 3 months. At least 75% compliance is required for each of the three conditions to achieve a passing score for this factor.

This element is very time-consuming, even with an electronic health record. The practice team members should work together to create the systems and tools, but, if possible, it is worth trying to acquire help from an intern or a student. Working on the medical home can be a wonderful educational experience.

Standard 4, element A: Support self-care

For this element, one must show that the practice has educational and self-monitoring tools that are given to all patients depending upon their needs. Involving the patient or family or caregiver in managing the patient’s health is an integral part of the patient-centered medical home.

This is particularly challenging in geriatrics, as many patients may be cognitively unable to participate, and it will be necessary to develop self-management tools that are meaningful for caregivers. When choosing the three clinically important conditions, one needs to keep this element in mind, as the practice must be able to create good educational and self-management tools that are relevant to the important conditions and applicable to the geriatric patient population.

To meet the specific requirements for this element, the practice must show that at least 50% of patients or families receive educational resources and have documented self-management plans, tools, and counseling, and an assessment of their self-management abilities. In addition, one can show that the electronic health record is used to identify patient-specific educational resources in at least 10% of patients. This last factor is also one of the CMS Meaningful Use Criteria.

To document that the practice is completing all the requirements for this element, one must look back 12 months (or at least 3 months if earlier data are unavailable) and use the list of patients with the three clinically important conditions. In addition, the practice needs to identify its high-risk or complex patients over the same time period. These two lists comprise the denominator. The numerator is the number of patients for which you can show documentation of each of the above items.

Because this audit is also time-consuming, it and standard 3, element C (care management) should be combined and performed simultaneously.

Standard 5, element B: Track referrals and follow-up

This is often the most difficult must-pass element to fulfill because it requires coordination with health care providers outside one’s practice. To complete this element, the office must have a system in place to track referrals originating within the practice and to ensure that all relevant information is both sent to and received back from the consultant. This tracking must include the reason for and the urgency of the referral, as well as relevant clinical information. One can also establish comanagement when needed for patients who are seen regularly by a specific specialist.

Making sure that the consultant’s report gets back to the practice is, for most sites, the most difficult part. It is often not feasible to do this entirely through the electronic health record, as it is unlikely that all your consultants have the same electronic health record as your practice. Therefore, this often requires at least a partially paper-based system, creating a file that must be checked on a regular basis to ensure that the appointment with the consultant has been completed and that he or she has sent a note back. If the information is not all there, there must be documentation of a phone call that tried to obtain the necessary information or to document the patient’s refusal to follow up.

Two factors in this element also meet CMS Meaningful Use Criteria: demonstrating the capability for electronic exchange of key clinical information between clinicians, and providing an electronic summary of the care record for more than 50% of referrals. To complete the documentation for this element, the practice must do an audit that reviews at least a week’s worth of referrals.

This element requires demonstration of continuous quality improvement activities in specific domains that are outlined in standard 6, elements A and B. Element A includes preventive care measures, chronic or acute care clinical measures, and measures that affect health care costs or help to assess disparities in vulnerable patients’ care. Element B includes surveying access, communication, coordination, and self-management support or obtaining feedback from vulnerable patient groups or patients and their families.

Once again, there is the potential for considerable overlap in the work that your practice does with the clinically important conditions, and with standard 1 (access), standard 2 (population reminders for preventive services), standard 3 (care management), and standard 4 (self-management). This overlap provides the opportunity to go into more depth and to show significant quality outcomes for some of the chosen measures.

This element requires the practice to set goals and to act to improve at least three measures from element A and at least one measure from element B. Points are also awarded for addressing at least one disparity in care or service for vulnerable populations. In geriatrics, some examples of vulnerable populations include the very frail, patients and families with significant psychosocial issues, those at the end of life, or patients with significant financial burdens (especially related to health care costs). Finally, points are awarded for involving patients or families in quality improvement teams.

To document adherence to this element, the practice must demonstrate quality improvement reports for all the selected measures as well as actions taken in response to the data. The goal is to meet the desired level of achievement that is established by your practice. If patients or families are asked to join quality improvement teams, the practice must describe the process employed for inclusion and details of the frequency of meetings and agendas.

OTHER ELEMENTS

Besides the must-pass elements, there are 21 additional elements, each with its own specific requirements and documentation. Some of these overlap with the concepts in the must-pass elements, so it is important to create processes that work for all the factors in all the related elements.

It is also important to understand that one does not need to master all the other elements— the practice can choose ones that are most meaningful for its patient population. One can also elect to skip ones that require particularly labor-intensive audits and that do not add much to the quality of geriatric patient care. The team should focus on making changes that help patient care and flow. All recognition levels require a minimum 50% score for the six must-pass elements, and the final recognition level is based on the following three criteria:

• Level 1: 35–59 points and all six must-pass elements
• Level 2: 60–84 points and all six must-pass elements
• Level 3: 85–100 points and all six must-pass elements.

FINAL SUBMISSION

Final submission involves completion of the application materials mentioned above, payment of the application fee, and attachment of files that have been linked to elements from the document library.

The process of uploading files for submission can be complex when multiple staff members are working on the documents. Files must be uploaded from shared drives, which should be set up when one begins the process of gathering documents. As a last step, the document library must be uploaded to the NCQA server. It is best to do this in batches of files. The time needed to upload depends on the speed of the Internet service. The survey form will indicate if each file has been successfully uploaded to the NCQA server.

The submitted survey tool is assigned a project number that can be used as a reference for inquiries to the NCQA. It is best to keep a copy of the final submission information for future use. Before submitting, it is a good idea to ask someone not involved in your practice to review the documents for clarity and consistency. Remember, the survey tool is a “read-only” document after submission, so no changes can be made to it after final submission.

The concept of the patient-centered medical home began as a solution for children with multiple chronic conditions.¹ It has since been touted as a solution for all patients with chronic diseases, for problems with continuity of care, for restructuring primary care flow, for quality and safety, and for reining in cost.^2–4 The key to the medical home concept is that the primary care provider helps to coordinate a patient’s care across a variety of settings and specialists and that patients are active participants in their own care. The National Committee for Quality Assurance (NCQA) is a nonprofit organization that certifies a practice as a medical home.

Regardless of whether one accepts all of these potential wide-ranging benefits, the process of becoming a patient-centered medical home can help to transform your practice and provide benefits to patients and staff alike.^4,5

This review outlines the background of the patient-centered medical home and details some of the building blocks needed to get started on the NCQA certification process. It also describes the process of choosing the three required and clinically important conditions geared to an older patient population. We then describe the “must-pass” standards in detail, highlight specific geriatric issues, and outline the final submission process.

WHY EXTEND THE MEDICAL HOME CONCEPT TO GERIATRICS?

Although this concept began in pediatrics, it is also well suited for geriatrics. Its features include many that have long been the mainstay of geriatric care: whole-person orientation; partnerships between providers, patients, and families; coordinated and integrated care; enhanced access; a focus on quality; and a focus on management of chronic diseases.²

Traditionally, the management of chronic disease has focused on diseases such as diabetes and congestive heart failure. These diseases have evidence-based interventions, available metrics, and known benefits for both cost and patient outcomes.

However, many of these measures of quality were derived from studies of middle-aged patients with few comorbidities, and they do not necessarily apply to the geriatric population. Moreover, these studies generally do not address functional status, the time frame for expected benefit vs projected life expectancy, the risk-benefit ratio related to managing these conditions, or the patient’s own values and goals.

Therefore, “quality-care” interventions that work well for younger adults may actually harm frail elderly patients.⁶ An important aspect of building a geriatric medical home is making sure that the changes you implement in care and quality improvement will actually benefit your patients.

WHY WORK TOWARD CERTIFICATION?

In reviewing all the steps involved and the tremendous work required for a successful geriatric medical home, it is worth asking the question: Why work toward NCQA patient-centered medical home certification?

In the end, the goal of undertaking this project is to provide patient care in a way that is comprehensive and efficient. This is the same goal we have always strived for in geriatrics, but now we have an opportunity to measure it and to receive recognition for our work.

In the process of preparing for this application, the practice will have the opportunity to reexamine many of its processes of care, to discover deficits, and to address them. This is something that should be done continuously on some level in any good office practice on a regular basis; the patient-centered medical home application just intensifies the process.

Taking into account the needs of your practice’s geriatric population is a critical component of how one structures the patient-centered medical home. The need to take into account the frail elderly population with limited life expectancy and the lack of evidenced-based data in some areas changes how we manage many chronic illnesses. Geriatrics should take the lead in creating appropriate quality measures for this patient population. Incorporating these concepts into the medical home model is the right way to create a geriatric medical home and helps to lend validity to this concept to insurers and national organizations.

GETTING STARTED

Before getting started, it is important to have adequate support systems in place.

Go electronic. Although the NCQA provides chart-audit tools to facilitate the examination of patient subsets, it is extremely difficult to obtain medical home certification without an electronic health record system. You need to be able to collect and analyze data on your patients, their outcomes, their satisfaction, and other variables important to the practice’s patient population. It is also critical to have personnel with good computer skills, to have administrative support, and to have adequate staffing to support the processes to be put in place.

Talk to major health insurance providers in your area to see if they are interested in supporting your practice. Insurers have a vested interest in their members’ care, and they may have resources to assist with the medical home application.

Learn more. The NCQA provides seminars, online programs (www.ncqa.org/tabid/631/default.aspx), and full-length conferences. These courses provide real examples of documentation that demonstrated compliance with the standards as well as examples of documentation that failed. Learning how to create detailed documentation for the NCQA elements is important.

A good overall resource is the free user’s guide that is available from NCQA. This publication contains step-by-step screen shots to assist in navigating the survey tool, linking documents, and submitting the final survey. Several other organizations have online resources to assist with this process, including the American College of Physicians’ Medical Home Builder (www.acponline.org/running_practice/pcmh/help.htm).⁷

Gather your documents. The application can be ordered at www.ncqa.org. You can also apply online, and users must purchase a license for the Web application. Final submission of an application involves the following items:

• A completed business associates agreement and the patient-centered medical home recognition program agreement
• A practice profile of all physicians
• The online application form
• The application fee, which ranges from $500 to $4,000, based on the number of physicians in the practice.

Get everyone on board. Most important at this juncture is getting “buy-in.” Studies have shown that becoming a patient-centered medical home requires transformation of the entire practice, including physicians and staff. Shared leadership and protected group reflection time are also helpful.⁸

In embarking on this journey, the practice should set goals and a realistic time line with an understanding that this is a long and laborious process.

The reward of this major undertaking is the opportunity to examine every aspect of how your practice delivers care and to make meaningful improvements where needed. Practices should not make the mistake of just trying to meet the standards without actually improving quality.

CHOOSE THREE IMPORTANT CONDITIONS FOR QUALITY IMPROVEMENT

One of the most important first steps is to choose three “important” clinical conditions that will be the focus of quality improvement. According to the NCQA, important conditions include unhealthy behaviors, substance abuse, and mental health issues with evidence-based clinical guidelines that affect a large number of people or that consume a disproportionate amount of health care resources.⁹

The health care providers in your practice should all agree that the chosen conditions are important both to themselves and to their patients and that the proposed interventions will improve the quality of care. At the same time, the conditions and measures of quality need to be relatively easy to define and measure.

The 2011 standards require that at least one of the conditions be related to an unhealthy behavior (eg, obesity, smoking), a mental health issue (eg, depression, anxiety, Alzheimer disease), or substance abuse.

How can quality of care be measured in frail elderly patients?

A special consideration in geriatrics is the frailty of our patients and their limited life expectancy. Chronic care management has not been well studied in the frail elderly, and the benefits of controlling various markers of a chronic illness—for example, diabetes—all have differing time horizons that, depending on patient prognosis, may never be realized.

For some chronic diseases, the practice may need to develop new quality measures that are appropriate for its patient population. These measures must be evidence-based, or, where evidence is lacking, expert consensus must be attained. The American Geriatrics Society has several clinical practice guidelines, including the treatment of diabetes in older persons, the prevention of falls, and the pharmacologic management of persistent pain.¹⁰

Another option is to rely on the traditional Healthcare Effectiveness Data and Information Set quality measures for your chosen chronic condition, but to target appropriate patients for the interventions. One way to do this is to incorporate a prognostic indicator such as the Vulnerable Elders Survey¹¹ or gait speed¹² into your office flow so that you can categorize patients into groups and then target interventions.

One more option is to choose a geriatric syndrome that is equally relevant to all your geriatric patients regardless of frailty. However, you must be able to measure aspects of the syndrome and have interventions that will improve specific outcomes.

SETTING PRIORITIES

At the outset, it is important to review the NCQA’s standards for a patient-centered medical home and to identify standards for which you have appropriate processes in place, standards in which you are deficient but which can be fixed, and standards that will be more difficult to address.

One way to do this is to complete the Web-based self-assessment survey, which provides a score by element. Each deficiency discovered is an opportunity to brainstorm solutions and to embark upon a rapid cycle of improvement (“plan, do, study, act”).¹³ Deficiencies should be tackled over time, however, to avoid overwhelming the practice. It is particularly helpful to create small work-groups, to assign tasks with definite deadlines, and to meet regularly to review progress and assign new tasks.

The NCQA released new standards in 2011. A new requirement is that the practice’s electronic health record system must incorporate Meaningful Use Criteria of the Centers for Medicare and Medicaid Services (CMS). These criteria show that the practice is using the electronic health record effectively. As a result, attaining medical home certification will ensure that the practice also meets CMS Meaningful Use Criteria.

Six standards for a patient-centered medical home

The NCQA has six standards for a patient-centered medical home, which align with the core components of primary care¹⁴:

• Standard 1: Enhance access and continuity
• Standard 2: Identify and manage patient populations
• Standard 3: Plan and manage care
• Standard 4: Provide self-care support and community resources
• Standard 5: Track and coordinate care
• Standard 6: Measure and improve performance.

Each of these standards is broken down into elements, designated A, B, C, and so on—27 in all. Each element is scored on the basis of the number of “factors” the practice meets in each element. For example, element E in standard 1 has four factors, and the practice will receive 100% of the two possible points if all four factors are met, 50% of all points if the practice meets two factors, and no points if the practice meets none of the factors.

NCQA now designates a “critical factor” for some elements. These are factors thought to be “central to the concept being assessed within particular elements,”⁹ and they must be met to score any points for the element. In the same element as above, for example, having regular team meetings or a structured communication process is designated as a critical factor. A practice must meet this factor in order to achieve any of the four points assigned to the element.

SIX ‘MUST-PASS’ ELEMENTS

Of the 27 elements, six are considered essential, and the practice must get a score of at least 50% in all six of these to pass. Since they are the most critical elements, it is often useful to focus on them first to ensure that your practice puts into place policies and other building blocks necessary to make these important elements happen.

Policies must be in place for at least 3 months before submission. Most practices will discover many unwritten workflows as they review these processes.

What follows is a summary of the must-pass elements and their requirements. This is meant to be used only as an overview to better understand the scope of the medical home requirements; the actual requirements should be obtained from the NCQA Web site.

Standard 1, element A: Provide timely access during office hours

This element requires that your office have a policy or process in place for patient access. Same-day appointment availability is deemed a critical factor and must be met to receive any score on the whole element.

The practice needs to measure availability for several different appointment types—new, urgent, and routine—and show that same-day access is available. This can be done by completing at least a 5-day audit measuring the length of time from when a patient contacts the practice to request an appointment to the third next available appointment on his or her clinician’s schedule. It is not enough to simply double-book patients in an already full schedule.

The remaining aspects of this element require being able to provide timely clinical advice by telephone or by secure electronic messages, or both, during office hours, and to document it. The practice must have policies in place that define “timely.” It also must audit phone calls to prove adherence to that policy. The audit should cover at least 5 days. The practice then needs to show at least three examples of clinical advice documented in patients’ charts. We recommend not monitoring all the components during the same week, since the monitoring is laborious and would be overwhelming if attempted all at once.

This element requires that your practice be able to generate lists of patients and send out reminders of needed services; both are also CMS Meaningful Use Criteria.

Specifically, the NCQA requires that you be able to generate lists of patients’ preventive care and chronic care services and be able to reach out to patients who have deficiencies. The practice must target at least three preventive care services and at least three chronic care services.

One can (and should) link this element to the three important conditions that have been chosen for the practice. For example, if osteoporosis is one of the important conditions, it also can be one of the three preventive care services; a possible quality improvement intervention could be to send reminders to patients to have bone density screening if they have not done so within a certain time frame.

In addition, the practice should have the ability to generate a list of patients who have not been seen at an appropriate interval, as well as a list of patients who are taking certain medications that require regular monitoring. To complete the audit, the practice must produce the four lists just described. Each must then be examined for the previous 12-month period, and documentation must be provided to show how patients with deficiencies were contacted.

Local insurance health plans may be able to help with this element, as these types of lists are often standard practice. Submitting the health plans’ lists is acceptable as long as you can show that they account for at least 75% of the practice.

Standard 3, element C: Manage care for your three conditions

This element focuses on the three clinically important chronic conditions you have chosen. It demonstrates that your practice is following these patients’ outcomes and targeting patients who require more attention to improve their outcomes. Doing so requires documenting pre-visit planning and individualized care plans and treatment goals.

The patient or the family, or both, should be given a written plan of care and a clinical summary at each visit. Barriers to progress need to be assessed, and patients should be contacted if they do not come to scheduled appointments. Patients who have significant barriers should be assessed for additional care management support. This is particularly important for a geriatric population, which may have significant psychosocial barriers such as financial problems, transportation issues, cognitive decline, and overall lack of support.

For each factor in this element, the office must create policies and protocols and assign tasks to appropriate members of the care team. For example, a nurse can make phone calls to targeted patients before their appointments to review goals of care using a standardized form. The form can be given to the physician at the time of the appointment for review and incorporation into the medical record.

Documentation for this element requires that the practice evaluate the number of patients with each chronic condition (the denominator) and the number of patients in each group for whom the above standards have been completed (the numerator) over the previous 3 months. At least 75% compliance is required for each of the three conditions to achieve a passing score for this factor.

This element is very time-consuming, even with an electronic health record. The practice team members should work together to create the systems and tools, but, if possible, it is worth trying to acquire help from an intern or a student. Working on the medical home can be a wonderful educational experience.

Standard 4, element A: Support self-care

For this element, one must show that the practice has educational and self-monitoring tools that are given to all patients depending upon their needs. Involving the patient or family or caregiver in managing the patient’s health is an integral part of the patient-centered medical home.

This is particularly challenging in geriatrics, as many patients may be cognitively unable to participate, and it will be necessary to develop self-management tools that are meaningful for caregivers. When choosing the three clinically important conditions, one needs to keep this element in mind, as the practice must be able to create good educational and self-management tools that are relevant to the important conditions and applicable to the geriatric patient population.

To meet the specific requirements for this element, the practice must show that at least 50% of patients or families receive educational resources and have documented self-management plans, tools, and counseling, and an assessment of their self-management abilities. In addition, one can show that the electronic health record is used to identify patient-specific educational resources in at least 10% of patients. This last factor is also one of the CMS Meaningful Use Criteria.

To document that the practice is completing all the requirements for this element, one must look back 12 months (or at least 3 months if earlier data are unavailable) and use the list of patients with the three clinically important conditions. In addition, the practice needs to identify its high-risk or complex patients over the same time period. These two lists comprise the denominator. The numerator is the number of patients for which you can show documentation of each of the above items.

Because this audit is also time-consuming, it and standard 3, element C (care management) should be combined and performed simultaneously.

Standard 5, element B: Track referrals and follow-up

This is often the most difficult must-pass element to fulfill because it requires coordination with health care providers outside one’s practice. To complete this element, the office must have a system in place to track referrals originating within the practice and to ensure that all relevant information is both sent to and received back from the consultant. This tracking must include the reason for and the urgency of the referral, as well as relevant clinical information. One can also establish comanagement when needed for patients who are seen regularly by a specific specialist.

Making sure that the consultant’s report gets back to the practice is, for most sites, the most difficult part. It is often not feasible to do this entirely through the electronic health record, as it is unlikely that all your consultants have the same electronic health record as your practice. Therefore, this often requires at least a partially paper-based system, creating a file that must be checked on a regular basis to ensure that the appointment with the consultant has been completed and that he or she has sent a note back. If the information is not all there, there must be documentation of a phone call that tried to obtain the necessary information or to document the patient’s refusal to follow up.

Two factors in this element also meet CMS Meaningful Use Criteria: demonstrating the capability for electronic exchange of key clinical information between clinicians, and providing an electronic summary of the care record for more than 50% of referrals. To complete the documentation for this element, the practice must do an audit that reviews at least a week’s worth of referrals.

This element requires demonstration of continuous quality improvement activities in specific domains that are outlined in standard 6, elements A and B. Element A includes preventive care measures, chronic or acute care clinical measures, and measures that affect health care costs or help to assess disparities in vulnerable patients’ care. Element B includes surveying access, communication, coordination, and self-management support or obtaining feedback from vulnerable patient groups or patients and their families.

Once again, there is the potential for considerable overlap in the work that your practice does with the clinically important conditions, and with standard 1 (access), standard 2 (population reminders for preventive services), standard 3 (care management), and standard 4 (self-management). This overlap provides the opportunity to go into more depth and to show significant quality outcomes for some of the chosen measures.

This element requires the practice to set goals and to act to improve at least three measures from element A and at least one measure from element B. Points are also awarded for addressing at least one disparity in care or service for vulnerable populations. In geriatrics, some examples of vulnerable populations include the very frail, patients and families with significant psychosocial issues, those at the end of life, or patients with significant financial burdens (especially related to health care costs). Finally, points are awarded for involving patients or families in quality improvement teams.

To document adherence to this element, the practice must demonstrate quality improvement reports for all the selected measures as well as actions taken in response to the data. The goal is to meet the desired level of achievement that is established by your practice. If patients or families are asked to join quality improvement teams, the practice must describe the process employed for inclusion and details of the frequency of meetings and agendas.

OTHER ELEMENTS

Besides the must-pass elements, there are 21 additional elements, each with its own specific requirements and documentation. Some of these overlap with the concepts in the must-pass elements, so it is important to create processes that work for all the factors in all the related elements.

It is also important to understand that one does not need to master all the other elements— the practice can choose ones that are most meaningful for its patient population. One can also elect to skip ones that require particularly labor-intensive audits and that do not add much to the quality of geriatric patient care. The team should focus on making changes that help patient care and flow. All recognition levels require a minimum 50% score for the six must-pass elements, and the final recognition level is based on the following three criteria:

• Level 1: 35–59 points and all six must-pass elements
• Level 2: 60–84 points and all six must-pass elements
• Level 3: 85–100 points and all six must-pass elements.

FINAL SUBMISSION

Final submission involves completion of the application materials mentioned above, payment of the application fee, and attachment of files that have been linked to elements from the document library.

The process of uploading files for submission can be complex when multiple staff members are working on the documents. Files must be uploaded from shared drives, which should be set up when one begins the process of gathering documents. As a last step, the document library must be uploaded to the NCQA server. It is best to do this in batches of files. The time needed to upload depends on the speed of the Internet service. The survey form will indicate if each file has been successfully uploaded to the NCQA server.

The submitted survey tool is assigned a project number that can be used as a reference for inquiries to the NCQA. It is best to keep a copy of the final submission information for future use. Before submitting, it is a good idea to ask someone not involved in your practice to review the documents for clarity and consistency. Remember, the survey tool is a “read-only” document after submission, so no changes can be made to it after final submission.

The concept of the patient-centered medical home began as a solution for children with multiple chronic conditions.¹ It has since been touted as a solution for all patients with chronic diseases, for problems with continuity of care, for restructuring primary care flow, for quality and safety, and for reining in cost.^2–4 The key to the medical home concept is that the primary care provider helps to coordinate a patient’s care across a variety of settings and specialists and that patients are active participants in their own care. The National Committee for Quality Assurance (NCQA) is a nonprofit organization that certifies a practice as a medical home.

Regardless of whether one accepts all of these potential wide-ranging benefits, the process of becoming a patient-centered medical home can help to transform your practice and provide benefits to patients and staff alike.^4,5

This review outlines the background of the patient-centered medical home and details some of the building blocks needed to get started on the NCQA certification process. It also describes the process of choosing the three required and clinically important conditions geared to an older patient population. We then describe the “must-pass” standards in detail, highlight specific geriatric issues, and outline the final submission process.

WHY EXTEND THE MEDICAL HOME CONCEPT TO GERIATRICS?

Although this concept began in pediatrics, it is also well suited for geriatrics. Its features include many that have long been the mainstay of geriatric care: whole-person orientation; partnerships between providers, patients, and families; coordinated and integrated care; enhanced access; a focus on quality; and a focus on management of chronic diseases.²

Traditionally, the management of chronic disease has focused on diseases such as diabetes and congestive heart failure. These diseases have evidence-based interventions, available metrics, and known benefits for both cost and patient outcomes.

However, many of these measures of quality were derived from studies of middle-aged patients with few comorbidities, and they do not necessarily apply to the geriatric population. Moreover, these studies generally do not address functional status, the time frame for expected benefit vs projected life expectancy, the risk-benefit ratio related to managing these conditions, or the patient’s own values and goals.

Therefore, “quality-care” interventions that work well for younger adults may actually harm frail elderly patients.⁶ An important aspect of building a geriatric medical home is making sure that the changes you implement in care and quality improvement will actually benefit your patients.

WHY WORK TOWARD CERTIFICATION?

In reviewing all the steps involved and the tremendous work required for a successful geriatric medical home, it is worth asking the question: Why work toward NCQA patient-centered medical home certification?

In the end, the goal of undertaking this project is to provide patient care in a way that is comprehensive and efficient. This is the same goal we have always strived for in geriatrics, but now we have an opportunity to measure it and to receive recognition for our work.

In the process of preparing for this application, the practice will have the opportunity to reexamine many of its processes of care, to discover deficits, and to address them. This is something that should be done continuously on some level in any good office practice on a regular basis; the patient-centered medical home application just intensifies the process.

Taking into account the needs of your practice’s geriatric population is a critical component of how one structures the patient-centered medical home. The need to take into account the frail elderly population with limited life expectancy and the lack of evidenced-based data in some areas changes how we manage many chronic illnesses. Geriatrics should take the lead in creating appropriate quality measures for this patient population. Incorporating these concepts into the medical home model is the right way to create a geriatric medical home and helps to lend validity to this concept to insurers and national organizations.

GETTING STARTED

Before getting started, it is important to have adequate support systems in place.

Go electronic. Although the NCQA provides chart-audit tools to facilitate the examination of patient subsets, it is extremely difficult to obtain medical home certification without an electronic health record system. You need to be able to collect and analyze data on your patients, their outcomes, their satisfaction, and other variables important to the practice’s patient population. It is also critical to have personnel with good computer skills, to have administrative support, and to have adequate staffing to support the processes to be put in place.

Talk to major health insurance providers in your area to see if they are interested in supporting your practice. Insurers have a vested interest in their members’ care, and they may have resources to assist with the medical home application.

Learn more. The NCQA provides seminars, online programs (www.ncqa.org/tabid/631/default.aspx), and full-length conferences. These courses provide real examples of documentation that demonstrated compliance with the standards as well as examples of documentation that failed. Learning how to create detailed documentation for the NCQA elements is important.

A good overall resource is the free user’s guide that is available from NCQA. This publication contains step-by-step screen shots to assist in navigating the survey tool, linking documents, and submitting the final survey. Several other organizations have online resources to assist with this process, including the American College of Physicians’ Medical Home Builder (www.acponline.org/running_practice/pcmh/help.htm).⁷

Gather your documents. The application can be ordered at www.ncqa.org. You can also apply online, and users must purchase a license for the Web application. Final submission of an application involves the following items:

• A completed business associates agreement and the patient-centered medical home recognition program agreement
• A practice profile of all physicians
• The online application form
• The application fee, which ranges from $500 to $4,000, based on the number of physicians in the practice.

Get everyone on board. Most important at this juncture is getting “buy-in.” Studies have shown that becoming a patient-centered medical home requires transformation of the entire practice, including physicians and staff. Shared leadership and protected group reflection time are also helpful.⁸

In embarking on this journey, the practice should set goals and a realistic time line with an understanding that this is a long and laborious process.

The reward of this major undertaking is the opportunity to examine every aspect of how your practice delivers care and to make meaningful improvements where needed. Practices should not make the mistake of just trying to meet the standards without actually improving quality.

CHOOSE THREE IMPORTANT CONDITIONS FOR QUALITY IMPROVEMENT

One of the most important first steps is to choose three “important” clinical conditions that will be the focus of quality improvement. According to the NCQA, important conditions include unhealthy behaviors, substance abuse, and mental health issues with evidence-based clinical guidelines that affect a large number of people or that consume a disproportionate amount of health care resources.⁹

The health care providers in your practice should all agree that the chosen conditions are important both to themselves and to their patients and that the proposed interventions will improve the quality of care. At the same time, the conditions and measures of quality need to be relatively easy to define and measure.

The 2011 standards require that at least one of the conditions be related to an unhealthy behavior (eg, obesity, smoking), a mental health issue (eg, depression, anxiety, Alzheimer disease), or substance abuse.

How can quality of care be measured in frail elderly patients?

A special consideration in geriatrics is the frailty of our patients and their limited life expectancy. Chronic care management has not been well studied in the frail elderly, and the benefits of controlling various markers of a chronic illness—for example, diabetes—all have differing time horizons that, depending on patient prognosis, may never be realized.

For some chronic diseases, the practice may need to develop new quality measures that are appropriate for its patient population. These measures must be evidence-based, or, where evidence is lacking, expert consensus must be attained. The American Geriatrics Society has several clinical practice guidelines, including the treatment of diabetes in older persons, the prevention of falls, and the pharmacologic management of persistent pain.¹⁰

Another option is to rely on the traditional Healthcare Effectiveness Data and Information Set quality measures for your chosen chronic condition, but to target appropriate patients for the interventions. One way to do this is to incorporate a prognostic indicator such as the Vulnerable Elders Survey¹¹ or gait speed¹² into your office flow so that you can categorize patients into groups and then target interventions.

One more option is to choose a geriatric syndrome that is equally relevant to all your geriatric patients regardless of frailty. However, you must be able to measure aspects of the syndrome and have interventions that will improve specific outcomes.

SETTING PRIORITIES

At the outset, it is important to review the NCQA’s standards for a patient-centered medical home and to identify standards for which you have appropriate processes in place, standards in which you are deficient but which can be fixed, and standards that will be more difficult to address.

One way to do this is to complete the Web-based self-assessment survey, which provides a score by element. Each deficiency discovered is an opportunity to brainstorm solutions and to embark upon a rapid cycle of improvement (“plan, do, study, act”).¹³ Deficiencies should be tackled over time, however, to avoid overwhelming the practice. It is particularly helpful to create small work-groups, to assign tasks with definite deadlines, and to meet regularly to review progress and assign new tasks.

The NCQA released new standards in 2011. A new requirement is that the practice’s electronic health record system must incorporate Meaningful Use Criteria of the Centers for Medicare and Medicaid Services (CMS). These criteria show that the practice is using the electronic health record effectively. As a result, attaining medical home certification will ensure that the practice also meets CMS Meaningful Use Criteria.

Six standards for a patient-centered medical home

The NCQA has six standards for a patient-centered medical home, which align with the core components of primary care¹⁴:

• Standard 1: Enhance access and continuity
• Standard 2: Identify and manage patient populations
• Standard 3: Plan and manage care
• Standard 4: Provide self-care support and community resources
• Standard 5: Track and coordinate care
• Standard 6: Measure and improve performance.

Each of these standards is broken down into elements, designated A, B, C, and so on—27 in all. Each element is scored on the basis of the number of “factors” the practice meets in each element. For example, element E in standard 1 has four factors, and the practice will receive 100% of the two possible points if all four factors are met, 50% of all points if the practice meets two factors, and no points if the practice meets none of the factors.

NCQA now designates a “critical factor” for some elements. These are factors thought to be “central to the concept being assessed within particular elements,”⁹ and they must be met to score any points for the element. In the same element as above, for example, having regular team meetings or a structured communication process is designated as a critical factor. A practice must meet this factor in order to achieve any of the four points assigned to the element.

SIX ‘MUST-PASS’ ELEMENTS

Of the 27 elements, six are considered essential, and the practice must get a score of at least 50% in all six of these to pass. Since they are the most critical elements, it is often useful to focus on them first to ensure that your practice puts into place policies and other building blocks necessary to make these important elements happen.

Policies must be in place for at least 3 months before submission. Most practices will discover many unwritten workflows as they review these processes.

What follows is a summary of the must-pass elements and their requirements. This is meant to be used only as an overview to better understand the scope of the medical home requirements; the actual requirements should be obtained from the NCQA Web site.

Standard 1, element A: Provide timely access during office hours

This element requires that your office have a policy or process in place for patient access. Same-day appointment availability is deemed a critical factor and must be met to receive any score on the whole element.

The practice needs to measure availability for several different appointment types—new, urgent, and routine—and show that same-day access is available. This can be done by completing at least a 5-day audit measuring the length of time from when a patient contacts the practice to request an appointment to the third next available appointment on his or her clinician’s schedule. It is not enough to simply double-book patients in an already full schedule.

The remaining aspects of this element require being able to provide timely clinical advice by telephone or by secure electronic messages, or both, during office hours, and to document it. The practice must have policies in place that define “timely.” It also must audit phone calls to prove adherence to that policy. The audit should cover at least 5 days. The practice then needs to show at least three examples of clinical advice documented in patients’ charts. We recommend not monitoring all the components during the same week, since the monitoring is laborious and would be overwhelming if attempted all at once.

This element requires that your practice be able to generate lists of patients and send out reminders of needed services; both are also CMS Meaningful Use Criteria.

Specifically, the NCQA requires that you be able to generate lists of patients’ preventive care and chronic care services and be able to reach out to patients who have deficiencies. The practice must target at least three preventive care services and at least three chronic care services.

One can (and should) link this element to the three important conditions that have been chosen for the practice. For example, if osteoporosis is one of the important conditions, it also can be one of the three preventive care services; a possible quality improvement intervention could be to send reminders to patients to have bone density screening if they have not done so within a certain time frame.

In addition, the practice should have the ability to generate a list of patients who have not been seen at an appropriate interval, as well as a list of patients who are taking certain medications that require regular monitoring. To complete the audit, the practice must produce the four lists just described. Each must then be examined for the previous 12-month period, and documentation must be provided to show how patients with deficiencies were contacted.

Local insurance health plans may be able to help with this element, as these types of lists are often standard practice. Submitting the health plans’ lists is acceptable as long as you can show that they account for at least 75% of the practice.

Standard 3, element C: Manage care for your three conditions

This element focuses on the three clinically important chronic conditions you have chosen. It demonstrates that your practice is following these patients’ outcomes and targeting patients who require more attention to improve their outcomes. Doing so requires documenting pre-visit planning and individualized care plans and treatment goals.

The patient or the family, or both, should be given a written plan of care and a clinical summary at each visit. Barriers to progress need to be assessed, and patients should be contacted if they do not come to scheduled appointments. Patients who have significant barriers should be assessed for additional care management support. This is particularly important for a geriatric population, which may have significant psychosocial barriers such as financial problems, transportation issues, cognitive decline, and overall lack of support.

For each factor in this element, the office must create policies and protocols and assign tasks to appropriate members of the care team. For example, a nurse can make phone calls to targeted patients before their appointments to review goals of care using a standardized form. The form can be given to the physician at the time of the appointment for review and incorporation into the medical record.

Documentation for this element requires that the practice evaluate the number of patients with each chronic condition (the denominator) and the number of patients in each group for whom the above standards have been completed (the numerator) over the previous 3 months. At least 75% compliance is required for each of the three conditions to achieve a passing score for this factor.

This element is very time-consuming, even with an electronic health record. The practice team members should work together to create the systems and tools, but, if possible, it is worth trying to acquire help from an intern or a student. Working on the medical home can be a wonderful educational experience.

Standard 4, element A: Support self-care

For this element, one must show that the practice has educational and self-monitoring tools that are given to all patients depending upon their needs. Involving the patient or family or caregiver in managing the patient’s health is an integral part of the patient-centered medical home.

This is particularly challenging in geriatrics, as many patients may be cognitively unable to participate, and it will be necessary to develop self-management tools that are meaningful for caregivers. When choosing the three clinically important conditions, one needs to keep this element in mind, as the practice must be able to create good educational and self-management tools that are relevant to the important conditions and applicable to the geriatric patient population.

To meet the specific requirements for this element, the practice must show that at least 50% of patients or families receive educational resources and have documented self-management plans, tools, and counseling, and an assessment of their self-management abilities. In addition, one can show that the electronic health record is used to identify patient-specific educational resources in at least 10% of patients. This last factor is also one of the CMS Meaningful Use Criteria.

To document that the practice is completing all the requirements for this element, one must look back 12 months (or at least 3 months if earlier data are unavailable) and use the list of patients with the three clinically important conditions. In addition, the practice needs to identify its high-risk or complex patients over the same time period. These two lists comprise the denominator. The numerator is the number of patients for which you can show documentation of each of the above items.

Because this audit is also time-consuming, it and standard 3, element C (care management) should be combined and performed simultaneously.

Standard 5, element B: Track referrals and follow-up

This is often the most difficult must-pass element to fulfill because it requires coordination with health care providers outside one’s practice. To complete this element, the office must have a system in place to track referrals originating within the practice and to ensure that all relevant information is both sent to and received back from the consultant. This tracking must include the reason for and the urgency of the referral, as well as relevant clinical information. One can also establish comanagement when needed for patients who are seen regularly by a specific specialist.

Making sure that the consultant’s report gets back to the practice is, for most sites, the most difficult part. It is often not feasible to do this entirely through the electronic health record, as it is unlikely that all your consultants have the same electronic health record as your practice. Therefore, this often requires at least a partially paper-based system, creating a file that must be checked on a regular basis to ensure that the appointment with the consultant has been completed and that he or she has sent a note back. If the information is not all there, there must be documentation of a phone call that tried to obtain the necessary information or to document the patient’s refusal to follow up.

Two factors in this element also meet CMS Meaningful Use Criteria: demonstrating the capability for electronic exchange of key clinical information between clinicians, and providing an electronic summary of the care record for more than 50% of referrals. To complete the documentation for this element, the practice must do an audit that reviews at least a week’s worth of referrals.

This element requires demonstration of continuous quality improvement activities in specific domains that are outlined in standard 6, elements A and B. Element A includes preventive care measures, chronic or acute care clinical measures, and measures that affect health care costs or help to assess disparities in vulnerable patients’ care. Element B includes surveying access, communication, coordination, and self-management support or obtaining feedback from vulnerable patient groups or patients and their families.

Once again, there is the potential for considerable overlap in the work that your practice does with the clinically important conditions, and with standard 1 (access), standard 2 (population reminders for preventive services), standard 3 (care management), and standard 4 (self-management). This overlap provides the opportunity to go into more depth and to show significant quality outcomes for some of the chosen measures.

This element requires the practice to set goals and to act to improve at least three measures from element A and at least one measure from element B. Points are also awarded for addressing at least one disparity in care or service for vulnerable populations. In geriatrics, some examples of vulnerable populations include the very frail, patients and families with significant psychosocial issues, those at the end of life, or patients with significant financial burdens (especially related to health care costs). Finally, points are awarded for involving patients or families in quality improvement teams.

To document adherence to this element, the practice must demonstrate quality improvement reports for all the selected measures as well as actions taken in response to the data. The goal is to meet the desired level of achievement that is established by your practice. If patients or families are asked to join quality improvement teams, the practice must describe the process employed for inclusion and details of the frequency of meetings and agendas.

OTHER ELEMENTS

Besides the must-pass elements, there are 21 additional elements, each with its own specific requirements and documentation. Some of these overlap with the concepts in the must-pass elements, so it is important to create processes that work for all the factors in all the related elements.

It is also important to understand that one does not need to master all the other elements— the practice can choose ones that are most meaningful for its patient population. One can also elect to skip ones that require particularly labor-intensive audits and that do not add much to the quality of geriatric patient care. The team should focus on making changes that help patient care and flow. All recognition levels require a minimum 50% score for the six must-pass elements, and the final recognition level is based on the following three criteria:

• Level 1: 35–59 points and all six must-pass elements
• Level 2: 60–84 points and all six must-pass elements
• Level 3: 85–100 points and all six must-pass elements.

FINAL SUBMISSION

Final submission involves completion of the application materials mentioned above, payment of the application fee, and attachment of files that have been linked to elements from the document library.

The process of uploading files for submission can be complex when multiple staff members are working on the documents. Files must be uploaded from shared drives, which should be set up when one begins the process of gathering documents. As a last step, the document library must be uploaded to the NCQA server. It is best to do this in batches of files. The time needed to upload depends on the speed of the Internet service. The survey form will indicate if each file has been successfully uploaded to the NCQA server.

The submitted survey tool is assigned a project number that can be used as a reference for inquiries to the NCQA. It is best to keep a copy of the final submission information for future use. Before submitting, it is a good idea to ask someone not involved in your practice to review the documents for clarity and consistency. Remember, the survey tool is a “read-only” document after submission, so no changes can be made to it after final submission.

Q: What is the diagnosis?

• Fabry disease
• Peripheral neuropathy
• Polycythemia
• Primary idiopathic erythromelalgia
• Erythrodysesthesia syndrome

A: The correct diagnosis is primary idiopathic erythromelalgia.

Erythromelalgia is a relatively rare clinical condition of uncertain etiology, characterized by the triad of episodic redness, warmth, and burning pain in the extremities.^1,2

The condition has primary (ie, no underlying cause is found) and secondary forms.^1,3 The primary form may be inherited in an autosomal dominant manner (in which case the symptoms begin in childhood), or it may be idiopathic.⁴ On the other hand, erythromelalgia can also be secondary to polycythemia vera and other myeloproliferative disorders, connective tissue disorders, neuropathies, spinal cord diseases, carcinoma of the colon and thyroid, and astrocytomas.^1–6

The common pathologic mechanism of erythromelalgia is thought to be microvascular arteriovenous shunting.⁵ A mutation in the voltage-gated sodium channel alpha subunit Na_V1.7 may result in primary erythromelalgia. Small-fiber neuropathy² can manifest as erythromelalgia and may respond to steroids.

The symptoms can be intermittent or, in rare cases, constant.³ The lower limbs are more commonly involved than the upper ones.³ Involvement is often bilateral and symmetric.³ The symptoms may worsen at night, after alcohol consumption, with higher environmental temperature, and with moderate exercise.³ In rare cases, ulceration and gangrene may occur. Patients may get relief by cooling the affected areas.²

DIAGNOSIS BY EXCLUSION OR BASED ON THE PRESENTATION

The diagnosis of erythromelalgia is based on a detailed history and physical examination during a painful episode.^2,3 Because the condition is intermittent, only about two-thirds of patients have abnormal findings on physical examination at the time of presentation; in such cases, the diagnosis is based on the history alone.²

Testing is needed to exclude other diagnoses and to determine the cause of secondary erythromelalgia. Histopathologic study of lesions is not helpful, as the features are nonspecific and hence nondiagnostic.²

In our patient, the typical clinical features and the lack of an obvious cause on diagnostic testing confirmed the diagnosis.

THE DIFFERENTIAL DIAGNOSIS

Other conditions can be ruled out by clinical features and laboratory testing.

Fabry disease causes paresthesia and burning pain in the extremities but not erythema. Characteristic dark red keratotic papules are seen all over the body (angiokeratoma corporis diffusum). It is often associated with progressive renal insufficiency.

Peripheral neuropathy of varying causes may also cause pain in the extremities but not erythema. Neurologic examination and a nerve conduction velocity study can resolve the diagnostic problem. Clinical features and laboratory testing often help to pinpoint the cause of neuropathy.

Polycythemia may cause erythema in the hands, feet, and face and mucosal engorgement. Telangiectasia, petechiae, and cyanosis may also occur. Our patient’s normal complete blood cell count excluded this condition.

Erythrodysesthesia syndrome, typically caused by chemotherapeutic drugs, was not included in the differential diagnosis since our patient had taken no medications.

Other causes of palmar erythema to rule out, depending on the patient’s presentation, may include thyrotoxicosis, chronic febrile illness, leukemia, hepatic insufficiency, chronic alcoholism, and rheumatoid arthritis.

TREATMENT AND PROGNOSIS

There is no definitive therapy for erythromelalgia.⁴ Treatment is often difficult and needs a multidisciplinary approach. Simple measures such as cooling² (eg, applying cold towels, immersion in cool water, walking on cold floors) or elevating the affected extremity often relieve symptoms. Patients should avoid precipitating factors such as warmth, dependency of extremities, exercise, tight footwear, and alcohol intake.

If there is an underlying disease, treating the disease may also alleviate the symptoms.⁷ Aspirin^2,7 is the therapy of choice for erythromelalgia in patients with an underlying myeloproliferative disorder, and some authors have advocated it for all patients with erythromelalgia unless there is a contraindication.⁷

Other possible first-line treatments include the synthetic prostaglandin E₁ analogue misoprostol (Cytotec) and prostacyclins. Gabapentin (Neurontin), serotonin reuptake inhibitors such as sertaline (Zoloft) and venlafaxine (Effexor), and intravenous nitroprusside (Nitro-press) are considered second-line drugs.⁷

Surgical sympathectomy⁸ has also been tried, with variable results.

Outcomes in patients with erythromelalgia

In a case series from Mayo Clinic,² approximately equal numbers of patients with erythromelalgia became worse, stayed the same, or got better, and the disease resolved in 10% over a mean of 8.7 years.

THE OUTCOME IN OUR PATIENT

We advised our patient to avoid strenuous activity in a warm environment and to work in cooler areas as much as possible. We told him to wrap his affected extremities with cold towels during attacks, and we prescribed aspirin (650 mg/day) for 3 months. The treatment did not cure his condition, but his symptoms lessened within 2 months. We later referred him to a pain clinic.

Q: What is the diagnosis?

• Fabry disease
• Peripheral neuropathy
• Polycythemia
• Primary idiopathic erythromelalgia
• Erythrodysesthesia syndrome

A: The correct diagnosis is primary idiopathic erythromelalgia.

Erythromelalgia is a relatively rare clinical condition of uncertain etiology, characterized by the triad of episodic redness, warmth, and burning pain in the extremities.^1,2

The condition has primary (ie, no underlying cause is found) and secondary forms.^1,3 The primary form may be inherited in an autosomal dominant manner (in which case the symptoms begin in childhood), or it may be idiopathic.⁴ On the other hand, erythromelalgia can also be secondary to polycythemia vera and other myeloproliferative disorders, connective tissue disorders, neuropathies, spinal cord diseases, carcinoma of the colon and thyroid, and astrocytomas.^1–6

The common pathologic mechanism of erythromelalgia is thought to be microvascular arteriovenous shunting.⁵ A mutation in the voltage-gated sodium channel alpha subunit Na_V1.7 may result in primary erythromelalgia. Small-fiber neuropathy² can manifest as erythromelalgia and may respond to steroids.

The symptoms can be intermittent or, in rare cases, constant.³ The lower limbs are more commonly involved than the upper ones.³ Involvement is often bilateral and symmetric.³ The symptoms may worsen at night, after alcohol consumption, with higher environmental temperature, and with moderate exercise.³ In rare cases, ulceration and gangrene may occur. Patients may get relief by cooling the affected areas.²

DIAGNOSIS BY EXCLUSION OR BASED ON THE PRESENTATION

The diagnosis of erythromelalgia is based on a detailed history and physical examination during a painful episode.^2,3 Because the condition is intermittent, only about two-thirds of patients have abnormal findings on physical examination at the time of presentation; in such cases, the diagnosis is based on the history alone.²

Testing is needed to exclude other diagnoses and to determine the cause of secondary erythromelalgia. Histopathologic study of lesions is not helpful, as the features are nonspecific and hence nondiagnostic.²

In our patient, the typical clinical features and the lack of an obvious cause on diagnostic testing confirmed the diagnosis.

THE DIFFERENTIAL DIAGNOSIS

Other conditions can be ruled out by clinical features and laboratory testing.

Fabry disease causes paresthesia and burning pain in the extremities but not erythema. Characteristic dark red keratotic papules are seen all over the body (angiokeratoma corporis diffusum). It is often associated with progressive renal insufficiency.

Peripheral neuropathy of varying causes may also cause pain in the extremities but not erythema. Neurologic examination and a nerve conduction velocity study can resolve the diagnostic problem. Clinical features and laboratory testing often help to pinpoint the cause of neuropathy.

Polycythemia may cause erythema in the hands, feet, and face and mucosal engorgement. Telangiectasia, petechiae, and cyanosis may also occur. Our patient’s normal complete blood cell count excluded this condition.

Erythrodysesthesia syndrome, typically caused by chemotherapeutic drugs, was not included in the differential diagnosis since our patient had taken no medications.

Other causes of palmar erythema to rule out, depending on the patient’s presentation, may include thyrotoxicosis, chronic febrile illness, leukemia, hepatic insufficiency, chronic alcoholism, and rheumatoid arthritis.

TREATMENT AND PROGNOSIS

There is no definitive therapy for erythromelalgia.⁴ Treatment is often difficult and needs a multidisciplinary approach. Simple measures such as cooling² (eg, applying cold towels, immersion in cool water, walking on cold floors) or elevating the affected extremity often relieve symptoms. Patients should avoid precipitating factors such as warmth, dependency of extremities, exercise, tight footwear, and alcohol intake.

If there is an underlying disease, treating the disease may also alleviate the symptoms.⁷ Aspirin^2,7 is the therapy of choice for erythromelalgia in patients with an underlying myeloproliferative disorder, and some authors have advocated it for all patients with erythromelalgia unless there is a contraindication.⁷

Other possible first-line treatments include the synthetic prostaglandin E₁ analogue misoprostol (Cytotec) and prostacyclins. Gabapentin (Neurontin), serotonin reuptake inhibitors such as sertaline (Zoloft) and venlafaxine (Effexor), and intravenous nitroprusside (Nitro-press) are considered second-line drugs.⁷

Surgical sympathectomy⁸ has also been tried, with variable results.

Outcomes in patients with erythromelalgia

In a case series from Mayo Clinic,² approximately equal numbers of patients with erythromelalgia became worse, stayed the same, or got better, and the disease resolved in 10% over a mean of 8.7 years.

THE OUTCOME IN OUR PATIENT

We advised our patient to avoid strenuous activity in a warm environment and to work in cooler areas as much as possible. We told him to wrap his affected extremities with cold towels during attacks, and we prescribed aspirin (650 mg/day) for 3 months. The treatment did not cure his condition, but his symptoms lessened within 2 months. We later referred him to a pain clinic.

Q: What is the diagnosis?

• Fabry disease
• Peripheral neuropathy
• Polycythemia
• Primary idiopathic erythromelalgia
• Erythrodysesthesia syndrome

A: The correct diagnosis is primary idiopathic erythromelalgia.

Erythromelalgia is a relatively rare clinical condition of uncertain etiology, characterized by the triad of episodic redness, warmth, and burning pain in the extremities.^1,2

The condition has primary (ie, no underlying cause is found) and secondary forms.^1,3 The primary form may be inherited in an autosomal dominant manner (in which case the symptoms begin in childhood), or it may be idiopathic.⁴ On the other hand, erythromelalgia can also be secondary to polycythemia vera and other myeloproliferative disorders, connective tissue disorders, neuropathies, spinal cord diseases, carcinoma of the colon and thyroid, and astrocytomas.^1–6

The common pathologic mechanism of erythromelalgia is thought to be microvascular arteriovenous shunting.⁵ A mutation in the voltage-gated sodium channel alpha subunit Na_V1.7 may result in primary erythromelalgia. Small-fiber neuropathy² can manifest as erythromelalgia and may respond to steroids.

The symptoms can be intermittent or, in rare cases, constant.³ The lower limbs are more commonly involved than the upper ones.³ Involvement is often bilateral and symmetric.³ The symptoms may worsen at night, after alcohol consumption, with higher environmental temperature, and with moderate exercise.³ In rare cases, ulceration and gangrene may occur. Patients may get relief by cooling the affected areas.²

DIAGNOSIS BY EXCLUSION OR BASED ON THE PRESENTATION

The diagnosis of erythromelalgia is based on a detailed history and physical examination during a painful episode.^2,3 Because the condition is intermittent, only about two-thirds of patients have abnormal findings on physical examination at the time of presentation; in such cases, the diagnosis is based on the history alone.²

Testing is needed to exclude other diagnoses and to determine the cause of secondary erythromelalgia. Histopathologic study of lesions is not helpful, as the features are nonspecific and hence nondiagnostic.²

In our patient, the typical clinical features and the lack of an obvious cause on diagnostic testing confirmed the diagnosis.

THE DIFFERENTIAL DIAGNOSIS

Other conditions can be ruled out by clinical features and laboratory testing.

Fabry disease causes paresthesia and burning pain in the extremities but not erythema. Characteristic dark red keratotic papules are seen all over the body (angiokeratoma corporis diffusum). It is often associated with progressive renal insufficiency.

Peripheral neuropathy of varying causes may also cause pain in the extremities but not erythema. Neurologic examination and a nerve conduction velocity study can resolve the diagnostic problem. Clinical features and laboratory testing often help to pinpoint the cause of neuropathy.

Polycythemia may cause erythema in the hands, feet, and face and mucosal engorgement. Telangiectasia, petechiae, and cyanosis may also occur. Our patient’s normal complete blood cell count excluded this condition.

Erythrodysesthesia syndrome, typically caused by chemotherapeutic drugs, was not included in the differential diagnosis since our patient had taken no medications.

Other causes of palmar erythema to rule out, depending on the patient’s presentation, may include thyrotoxicosis, chronic febrile illness, leukemia, hepatic insufficiency, chronic alcoholism, and rheumatoid arthritis.

TREATMENT AND PROGNOSIS

There is no definitive therapy for erythromelalgia.⁴ Treatment is often difficult and needs a multidisciplinary approach. Simple measures such as cooling² (eg, applying cold towels, immersion in cool water, walking on cold floors) or elevating the affected extremity often relieve symptoms. Patients should avoid precipitating factors such as warmth, dependency of extremities, exercise, tight footwear, and alcohol intake.

If there is an underlying disease, treating the disease may also alleviate the symptoms.⁷ Aspirin^2,7 is the therapy of choice for erythromelalgia in patients with an underlying myeloproliferative disorder, and some authors have advocated it for all patients with erythromelalgia unless there is a contraindication.⁷

Other possible first-line treatments include the synthetic prostaglandin E₁ analogue misoprostol (Cytotec) and prostacyclins. Gabapentin (Neurontin), serotonin reuptake inhibitors such as sertaline (Zoloft) and venlafaxine (Effexor), and intravenous nitroprusside (Nitro-press) are considered second-line drugs.⁷

Surgical sympathectomy⁸ has also been tried, with variable results.

Outcomes in patients with erythromelalgia

In a case series from Mayo Clinic,² approximately equal numbers of patients with erythromelalgia became worse, stayed the same, or got better, and the disease resolved in 10% over a mean of 8.7 years.

THE OUTCOME IN OUR PATIENT

We advised our patient to avoid strenuous activity in a warm environment and to work in cooler areas as much as possible. We told him to wrap his affected extremities with cold towels during attacks, and we prescribed aspirin (650 mg/day) for 3 months. The treatment did not cure his condition, but his symptoms lessened within 2 months. We later referred him to a pain clinic.

Lung cancer can sometimes be detected with a low-dose screening CT (computed tomography) scan. During the scan, you will lie down in a donut-like structure while x-rays are passed through your body. Computers then use these x-rays to produce images of the inside of your body. The scan does not hurt and takes only a few seconds to complete.

Benefits of screening

Screening for lung cancer with a chest CT scan has been shown to lower your chance of dying from lung cancer by 20%. That means that for every 5 people who would have died from lung cancer without screening, 1 of these 5 will not.

Downside of screening

False alarms. Screening for lung cancer with a chest CT has been shown to find a small spot or spots (called lung nodules) in the lungs of at least one-quarter of everyone who gets the CT scan. Only 3 or 4 out of 100 of the lung nodules found are cancer, while the rest are small scars that will never affect your health.

For many of the small lung nodules found, there is no way to tell without additional tests if they are a small scar or a lung cancer. These tests usually include CT scans done over time to see if the lung nodule grows. If the lung nodule is large enough, a biopsy may also be required. Therefore, many people who have a lung cancer screening CT scan and do not have lung cancer will have additional tests performed.

The physician who ordered the screening test will be able to advise you about how the lung nodule should be evaluated. He or she may choose to have you visit a lung nodule clinic for advice as well.

Cost. Most insurance programs do not currently cover the cost of a lung cancer screening chest CT, but they usually do cover the evaluation of any abnormal findings.

Quit smoking!

If you currently smoke, you can lower your risk of dying from lung cancer by quitting smoking. The amount your risk will be lowered by quitting smoking is greater than the amount your risk will be lowered by being screened with a CT scan. If you smoke, try to quit. Talk to your doctor about the best strategies for quitting.

This information is provided by your physician and the Cleveland Clinic Journal of Medicine. It is not designed to replace a physician’s medical assessment and judgment.

This page may be reproduced noncommercially to share with patients. Any other reproduction is subject to Cleveland Clinic Journal of Medicine approval. Bulk color reprints are available by calling 216-444-2661.

For patient information on hundreds of health topics, see the Patient Education and Health Information web site, www.clevelandclinic.org/health

Lung cancer can sometimes be detected with a low-dose screening CT (computed tomography) scan. During the scan, you will lie down in a donut-like structure while x-rays are passed through your body. Computers then use these x-rays to produce images of the inside of your body. The scan does not hurt and takes only a few seconds to complete.

Benefits of screening

Screening for lung cancer with a chest CT scan has been shown to lower your chance of dying from lung cancer by 20%. That means that for every 5 people who would have died from lung cancer without screening, 1 of these 5 will not.

Downside of screening

False alarms. Screening for lung cancer with a chest CT has been shown to find a small spot or spots (called lung nodules) in the lungs of at least one-quarter of everyone who gets the CT scan. Only 3 or 4 out of 100 of the lung nodules found are cancer, while the rest are small scars that will never affect your health.

For many of the small lung nodules found, there is no way to tell without additional tests if they are a small scar or a lung cancer. These tests usually include CT scans done over time to see if the lung nodule grows. If the lung nodule is large enough, a biopsy may also be required. Therefore, many people who have a lung cancer screening CT scan and do not have lung cancer will have additional tests performed.

The physician who ordered the screening test will be able to advise you about how the lung nodule should be evaluated. He or she may choose to have you visit a lung nodule clinic for advice as well.

Cost. Most insurance programs do not currently cover the cost of a lung cancer screening chest CT, but they usually do cover the evaluation of any abnormal findings.

Quit smoking!

If you currently smoke, you can lower your risk of dying from lung cancer by quitting smoking. The amount your risk will be lowered by quitting smoking is greater than the amount your risk will be lowered by being screened with a CT scan. If you smoke, try to quit. Talk to your doctor about the best strategies for quitting.

This information is provided by your physician and the Cleveland Clinic Journal of Medicine. It is not designed to replace a physician’s medical assessment and judgment.

This page may be reproduced noncommercially to share with patients. Any other reproduction is subject to Cleveland Clinic Journal of Medicine approval. Bulk color reprints are available by calling 216-444-2661.

For patient information on hundreds of health topics, see the Patient Education and Health Information web site, www.clevelandclinic.org/health

Lung cancer can sometimes be detected with a low-dose screening CT (computed tomography) scan. During the scan, you will lie down in a donut-like structure while x-rays are passed through your body. Computers then use these x-rays to produce images of the inside of your body. The scan does not hurt and takes only a few seconds to complete.

Benefits of screening

Screening for lung cancer with a chest CT scan has been shown to lower your chance of dying from lung cancer by 20%. That means that for every 5 people who would have died from lung cancer without screening, 1 of these 5 will not.

Downside of screening

False alarms. Screening for lung cancer with a chest CT has been shown to find a small spot or spots (called lung nodules) in the lungs of at least one-quarter of everyone who gets the CT scan. Only 3 or 4 out of 100 of the lung nodules found are cancer, while the rest are small scars that will never affect your health.

For many of the small lung nodules found, there is no way to tell without additional tests if they are a small scar or a lung cancer. These tests usually include CT scans done over time to see if the lung nodule grows. If the lung nodule is large enough, a biopsy may also be required. Therefore, many people who have a lung cancer screening CT scan and do not have lung cancer will have additional tests performed.

The physician who ordered the screening test will be able to advise you about how the lung nodule should be evaluated. He or she may choose to have you visit a lung nodule clinic for advice as well.

Cost. Most insurance programs do not currently cover the cost of a lung cancer screening chest CT, but they usually do cover the evaluation of any abnormal findings.

Quit smoking!

If you currently smoke, you can lower your risk of dying from lung cancer by quitting smoking. The amount your risk will be lowered by quitting smoking is greater than the amount your risk will be lowered by being screened with a CT scan. If you smoke, try to quit. Talk to your doctor about the best strategies for quitting.

This information is provided by your physician and the Cleveland Clinic Journal of Medicine. It is not designed to replace a physician’s medical assessment and judgment.

This page may be reproduced noncommercially to share with patients. Any other reproduction is subject to Cleveland Clinic Journal of Medicine approval. Bulk color reprints are available by calling 216-444-2661.

For patient information on hundreds of health topics, see the Patient Education and Health Information web site, www.clevelandclinic.org/health

At the dawn of the genomics era, is the family history still relevant? The answer is a resounding yes.^1,2

The family history is clinically useful because it is a proxy for genetic, environmental, and behavioral risks to health. It can be used to inform risk stratification, allowing for judicious use of screening and opening the door to early and even prophylactic treatment.^3–8 As people live longer, we will need to detect common chronic conditions early in their course so that we can continue to improve health outcomes. Family history can help physicians personalize preventive care for conditions such as diabetes, osteoporosis, and cancers of the breast, colon, and prostate.^2,9–15

However, there is ample evidence that the family history is underused. Most practitioners ask about it infrequently and inconsistently.^16,17 Why is this, and how can we encourage the use of this powerful tool to enhance our daily clinical practice and improve care?

We will discuss here some of the challenges that make it difficult for physicians to collect and use the family history in clinical practice, and review strategies for collecting and using the family history in a more consistent manner. We anticipate that this discussion will be helpful to clinicians, as the family history is an essential input to personalized, preventive care plans.

CHALLENGE 1: ARE PATIENTS’ REPORTS RELIABLE?

A question that often arises when discussing the utility of the family history is the reliability of patients’ reports. Can we trust that patients can accurately report their family history? For many conditions, the answer is yes.^18,19

Ziogas and Anton-Culverl²⁰ asked 1,111 cancer patients whether their relatives had ever had cancer and verified their answers. In more than 95% of cases, if the patient said that a first-degree or second-degree relative did not have cancer of any type, that relative truly did not have cancer. Overall, over-reporting of cancer was rare, occurring in 2.4% of cases.

If the patient said that a relative did have cancer, that statement was usually true as well. The reliability of a report of cancer in first-degree relatives was greater than 75% for most types of cancer (female breast, ovarian, esophageal, colorectal, pancreas, lung, melanoma, brain, thyroid, lymphoma, leukemia). For several of these types of cancer (female breast, colorectal, and brain), the reliability was 90% or higher. For second-degree relatives, the reliability of a reported positive history was moderate (50% to 80%) for the same types of cancer, and for third-degree relatives, the reliability dropped further for all types of cancer except female breast, brain, pancreas, and leukemia, for which the reliability of a positive report remained at 70%.

Wideroff et al²¹ had similar findings in a study of more than 1,000 patients and more than 20,000 of their relatives.

Yoon et al,¹⁸ at the US Centers for Disease Control and Prevention, developed a Web-based risk-assessment tool called Family Healthware, currently undergoing validation trials. They found that patients’ reports were highly reliable for coronary heart disease, stroke, diabetes, and breast, ovarian, and colorectal cancers. They also calculated the degree of risk associated with a positive family history and the prevalence of a family history of each of these diseases.

For the primary care physician, these studies support the reliability of patients’ reports and provide guidance for targeting specific conditions when obtaining a family history.

CHALLENGE 2: NO TIME OR REIMBURSEMENT

Perhaps the most obvious barriers to collecting a family history are lack of time and reimbursement.

Acheson et al,¹⁷ in an observational study of 138 primary care physicians and 4,454 patient visits, found that family history was discussed during 51% of new patient visits and 22% of established patient visits. The rate at which the family history was taken varied from 0% (some physicians never asked) to 81% of all patient visits. On average, physicians spent less than 2.5 minutes collecting the family history.

Not surprisingly, the family history was discussed more often at well-care visits than at illness visits, as the former type of visit tends to be longer and, by definition, to be spent partly on preventive care. A difficulty with this strategy is that, given the shortage of primary care physicians, limited access, and patient preference, most preventive-care visits are combined with problem-focused visits, further decreasing the time available to collect and discuss a family history. While some argue that the family history should routinely be obtained and discussed during preventive-care visits regardless of reimbursement and time, the reality is that it may simply drop on the list of priorities for each visit.

Rich et al³ estimated that taking a family history would increase reimbursement for only one new patient evaluation and management code (99202) and one return-visit code (99213) in Current Procedural Terminology. This action would increase reimbursement enough to support about 10 minutes of physician effort for collecting, documenting, and analyzing the family history. While this is certainly better than the average of less than 2.5 minutes observed by Acheson et al,¹⁷ doctors would probably do it more if they were paid more for it.

Electronic solutions

Given that a lack of time is a barrier, what are some ways to minimize the time it takes to collect a family history?

With more physicians using electronic health records and with increasing use of Internet-based tools in the population at large, information-technology systems have been developed to help obtain the family history. One of the most widely used is the US surgeon general’s My Family Health Portrait, available free at https://familyhistory.hhs.gov. It is one of the broadest electronic family-history collection tools and has been validated for use in risk assessment for diabetes and cancer of the colon, breast, and ovaries.²²

However, electronic solutions have their own challenges. Not all patients have access to the Internet, many need help using these programs, and these tools may not work well with existing electronic medical records systems.²³ Ideally, these programs would also provide built-in decision support for the provider, thereby maximizing data use for final patient risk assessment.²³ Furthermore, electronic solutions are not a one-time-only risk assessment— periodic re-review of family history and reassessment of familial risk are required.²⁴

Does taking a family history improve outcomes? Lessons from breast cancer

One of the reasons physicians don’t get reimbursed for collecting a family history is that it has been difficult to measure any improvement in outcomes associated with risk prediction through family history.

The best examples of improvement in outcomes associated with family history-based risk prediction come from studies of breast cancer. From 5% to 10% of cases of breast cancer are part of hereditary cancer syndromes, many of which have a known genetic cause. The most prevalent of these genetic syndromes is the hereditary breast and ovarian cancer (HBOC) syndrome, caused by mutations in the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes. Clinical testing for BRCA mutations has been available since 1998.²⁵ Women with a BRCA mutation have up to a 65% lifetime risk of developing breast cancer and up to a 40% lifetime risk of developing ovarian cancer.²⁶ Men with a BRCA mutation are at 10 to 100 times the risk of the general population (1% to 10% vs 0.1%) for developing breast cancer, and are also at higher risk of prostate and other cancers.²⁷

People who have a relative who developed breast cancer at a young age are more likely to harbor one of these mutations. For example, based on genetic testing in more than 185,000 people, the prevalence of BRCA mutations among people without cancer, not of Ashkenazi Jewish ancestry (a risk factor for breast cancer), and with no family history of early breast cancer or of ovarian cancer in any relative is 1.5%.²⁸ In contrast, people with no personal history of cancer who have a family history of breast cancer before age 50 have a 5.6% prevalence of BRCA mutation, and if they are of Ashkenazi Jewish ancestry, this number is 16.4%.²⁸

Medical and surgical interventions are available to reduce the risk of cancer in people with hereditary cancer syndromes such as HBOC. Options include screening more often, using advanced screening tests,²⁹ giving preventive drugs such as tamoxifen (Nolvadex), and prophylactic surgery.^30–32 What is the evidence that early screening and intervention in these people improve outcomes?

Domcheck et al³³ prospectively followed more than 2,400 women who had BRCA mutations to assess the effect of prophylactic mastectomy or salpingo-oophorectomy on cancer outcomes. Mastectomy was indeed associated with a lower risk of breast cancer: 0 cases of breast cancer were diagnosed in 3 years of prospective follow-up in the 247 women who elected to undergo mastectomy, compared with 98 cases diagnosed in the 1,372 women who did not elect it over a similar period.

Women who elected to undergo salpingo-oophorectomy had a similarly lower rate of ovarian cancer compared with those who did not elect surgery (1% vs 6%). Additionally, fewer women who elected prophylactic salpingo-oophorectomy died of any cause (3% vs 10%), died of breast cancer (2% vs 6%), or died of ovarian cancer (0.4% vs 3%) compared with women who did not elect surgery.

Taking a family history reduces costs

What is the evidence that appropriate use of the family history decreases health care costs? Let us continue with the example of HBOC syndrome due to BRCA mutations.

Given that germline mutations account for 5% to 10% of cases of breast cancer in the United States and that the women who develop cancer associated with such mutations do so at a relatively young age, these mutations account for a disproportionate share of life-years lost due to cancer.³⁴ Through taking a family history, these women at high risk can be identified and referred for genetic testing. Genetic testing, though costly, is more cost-effective than diagnosing and treating cancer.

Anderson et al,³⁴ in 2006, estimated that cost-effective policies on testing and preventive treatment for persons at high risk of breast cancer could save up to $800 million of the more than $8 billion spent each year on breast cancer diagnosis, prevention, and treatment.

Kwon et al,³⁵ in a simulation model (not a study in real patients), compared four different criteria for BRCA testing in women with ovarian cancer to see which strategy would be most cost-effective in preventing breast and ovarian cancers in their first-degree relatives. The best strategy, according to this analysis, is to test women with ovarian cancer for BRCA mutations if they also have a personal history of breast cancer, have a family history of breast or ovarian cancer, or are of Ashkenazi Jewish ancestry. The estimated cost per life-year gained with this strategy was $32,018, much lower than the widely accepted threshold for cost-effectiveness of $50,000 per life-year gained.

Although many professional organizations, including the US Preventive Services Task Force, have endorsed family-history-based eligibility criteria for genetic counseling and BRCA testing, awareness of the value of genetic testing in people who have been prescreened by family history has been relatively slow in seeping out to insurance carriers, especially Medicaid.^12,36 As evidence continues to accumulate showing that this approach can improve outcomes for at-risk family members, reimbursement and time allotted for obtaining and using the family history should be adjusted.

CHALLENGE 3: A KNOWLEDGE GAP IN CLINICIANS

Another challenge often cited as a cause of the underuse of the family history as a predictor of disease risk is that clinicians may not know enough about the topic. Several studies indicated that even when physicians had obtained some components of the family history, they did not document risk appropriately or recognize the significance of the pattern of inheritance observed.^37–39

In a study comparing primary care physicians and gastroenterologists in their use of the family history to predict the risk of hereditary colon cancer, gastroenterologists were more likely to elicit a family history of colorectal cancer and implement appropriate screening strategies, but overall compliance with screening guidelines was suboptimal in both groups.⁴⁰

A 2011 report by an advisory committee to the secretary of the US Department of Health and Human Services concluded that lack of genetics education in medical school limits the integration of genetics into clinical care.⁴¹

How can we close this knowledge gap?

Recognizing a need, the National Coalition for Health Professional Education in Genetics was established in 1996 by the American Medical Association, the American Nurses Association, and the National Human Genome Research Institute (www.nchpeg.org). Its mission is to promote the education of health professionals and access to information about advances in human genetics to improve the health care of the nation. It offers educational materials, including a newly updated “Core Principles in Family History” program, which can be used to educate medical providers and their patients about various concepts related to genetics and family history.

In addition, physicians can use many risk assessment tools based on family history in patient care. Two of the best known are:

• The Gail breast cancer risk assessment model, hosted by the National Cancer Institute (www.cancer.gov/bcrisktool/)
• The FRAX osteoporosis risk assessment model, developed by the World Health Organization (www.shef.ac.uk/FRAX).

As we continue to educate the medical community about the value of the family history in predicting disease, it will be important to increase efforts in medical schools and residency programs and to find new, more interactive ways of teaching these concepts.

A possible strategy is to highlight the use of pedigree drawing to recognize patterns of inheritance.² In a study of physician attitudes toward using patient-generated pedigrees in practice, such as those produced by the US surgeon general’s My Family Health Portrait, 73% of physicians stated that the patient-generated pedigree would improve their ability to assess the risk of disease, and the majority also agreed that it would not extend the time of the assessment.¹⁶

Is this information clinically useful?

Furthermore, knowing they are at risk might empower people and encourage them to engage with the medical system. For example, counseling people at risk of diabetes as reflected in the family history has been shown to increase their understanding of the risk and of preventive behaviors. Further study is needed to determine if such messages can engender lasting changes in behavior across many diseases.^42–46

TOWARD PERSONALIZED CARE

Especially now that caregivers are striving to provide value-based health care with emphasis on preventive care, the family history remains an important tool for detecting risk of disease. The evidence clearly indicates that medical providers have room for improvement in taking a family history and in using it.

We hope that asking patients about family history and recognizing patterns of disease will help us create personalized preventive-care plans, providing greater opportunity to educate and motivate our patients to work with us towards better health. Future solutions need to focus on time-effective ways to collect and analyze family history and on innovative methods of teaching medical providers at all levels to apply the family history to clinical practice.

At the dawn of the genomics era, is the family history still relevant? The answer is a resounding yes.^1,2

The family history is clinically useful because it is a proxy for genetic, environmental, and behavioral risks to health. It can be used to inform risk stratification, allowing for judicious use of screening and opening the door to early and even prophylactic treatment.^3–8 As people live longer, we will need to detect common chronic conditions early in their course so that we can continue to improve health outcomes. Family history can help physicians personalize preventive care for conditions such as diabetes, osteoporosis, and cancers of the breast, colon, and prostate.^2,9–15

However, there is ample evidence that the family history is underused. Most practitioners ask about it infrequently and inconsistently.^16,17 Why is this, and how can we encourage the use of this powerful tool to enhance our daily clinical practice and improve care?

We will discuss here some of the challenges that make it difficult for physicians to collect and use the family history in clinical practice, and review strategies for collecting and using the family history in a more consistent manner. We anticipate that this discussion will be helpful to clinicians, as the family history is an essential input to personalized, preventive care plans.

CHALLENGE 1: ARE PATIENTS’ REPORTS RELIABLE?

A question that often arises when discussing the utility of the family history is the reliability of patients’ reports. Can we trust that patients can accurately report their family history? For many conditions, the answer is yes.^18,19

Ziogas and Anton-Culverl²⁰ asked 1,111 cancer patients whether their relatives had ever had cancer and verified their answers. In more than 95% of cases, if the patient said that a first-degree or second-degree relative did not have cancer of any type, that relative truly did not have cancer. Overall, over-reporting of cancer was rare, occurring in 2.4% of cases.

If the patient said that a relative did have cancer, that statement was usually true as well. The reliability of a report of cancer in first-degree relatives was greater than 75% for most types of cancer (female breast, ovarian, esophageal, colorectal, pancreas, lung, melanoma, brain, thyroid, lymphoma, leukemia). For several of these types of cancer (female breast, colorectal, and brain), the reliability was 90% or higher. For second-degree relatives, the reliability of a reported positive history was moderate (50% to 80%) for the same types of cancer, and for third-degree relatives, the reliability dropped further for all types of cancer except female breast, brain, pancreas, and leukemia, for which the reliability of a positive report remained at 70%.

Wideroff et al²¹ had similar findings in a study of more than 1,000 patients and more than 20,000 of their relatives.

Yoon et al,¹⁸ at the US Centers for Disease Control and Prevention, developed a Web-based risk-assessment tool called Family Healthware, currently undergoing validation trials. They found that patients’ reports were highly reliable for coronary heart disease, stroke, diabetes, and breast, ovarian, and colorectal cancers. They also calculated the degree of risk associated with a positive family history and the prevalence of a family history of each of these diseases.

For the primary care physician, these studies support the reliability of patients’ reports and provide guidance for targeting specific conditions when obtaining a family history.

CHALLENGE 2: NO TIME OR REIMBURSEMENT

Perhaps the most obvious barriers to collecting a family history are lack of time and reimbursement.

Acheson et al,¹⁷ in an observational study of 138 primary care physicians and 4,454 patient visits, found that family history was discussed during 51% of new patient visits and 22% of established patient visits. The rate at which the family history was taken varied from 0% (some physicians never asked) to 81% of all patient visits. On average, physicians spent less than 2.5 minutes collecting the family history.

Not surprisingly, the family history was discussed more often at well-care visits than at illness visits, as the former type of visit tends to be longer and, by definition, to be spent partly on preventive care. A difficulty with this strategy is that, given the shortage of primary care physicians, limited access, and patient preference, most preventive-care visits are combined with problem-focused visits, further decreasing the time available to collect and discuss a family history. While some argue that the family history should routinely be obtained and discussed during preventive-care visits regardless of reimbursement and time, the reality is that it may simply drop on the list of priorities for each visit.

Rich et al³ estimated that taking a family history would increase reimbursement for only one new patient evaluation and management code (99202) and one return-visit code (99213) in Current Procedural Terminology. This action would increase reimbursement enough to support about 10 minutes of physician effort for collecting, documenting, and analyzing the family history. While this is certainly better than the average of less than 2.5 minutes observed by Acheson et al,¹⁷ doctors would probably do it more if they were paid more for it.

Electronic solutions

Given that a lack of time is a barrier, what are some ways to minimize the time it takes to collect a family history?

With more physicians using electronic health records and with increasing use of Internet-based tools in the population at large, information-technology systems have been developed to help obtain the family history. One of the most widely used is the US surgeon general’s My Family Health Portrait, available free at https://familyhistory.hhs.gov. It is one of the broadest electronic family-history collection tools and has been validated for use in risk assessment for diabetes and cancer of the colon, breast, and ovaries.²²

However, electronic solutions have their own challenges. Not all patients have access to the Internet, many need help using these programs, and these tools may not work well with existing electronic medical records systems.²³ Ideally, these programs would also provide built-in decision support for the provider, thereby maximizing data use for final patient risk assessment.²³ Furthermore, electronic solutions are not a one-time-only risk assessment— periodic re-review of family history and reassessment of familial risk are required.²⁴

Does taking a family history improve outcomes? Lessons from breast cancer

One of the reasons physicians don’t get reimbursed for collecting a family history is that it has been difficult to measure any improvement in outcomes associated with risk prediction through family history.

The best examples of improvement in outcomes associated with family history-based risk prediction come from studies of breast cancer. From 5% to 10% of cases of breast cancer are part of hereditary cancer syndromes, many of which have a known genetic cause. The most prevalent of these genetic syndromes is the hereditary breast and ovarian cancer (HBOC) syndrome, caused by mutations in the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes. Clinical testing for BRCA mutations has been available since 1998.²⁵ Women with a BRCA mutation have up to a 65% lifetime risk of developing breast cancer and up to a 40% lifetime risk of developing ovarian cancer.²⁶ Men with a BRCA mutation are at 10 to 100 times the risk of the general population (1% to 10% vs 0.1%) for developing breast cancer, and are also at higher risk of prostate and other cancers.²⁷

People who have a relative who developed breast cancer at a young age are more likely to harbor one of these mutations. For example, based on genetic testing in more than 185,000 people, the prevalence of BRCA mutations among people without cancer, not of Ashkenazi Jewish ancestry (a risk factor for breast cancer), and with no family history of early breast cancer or of ovarian cancer in any relative is 1.5%.²⁸ In contrast, people with no personal history of cancer who have a family history of breast cancer before age 50 have a 5.6% prevalence of BRCA mutation, and if they are of Ashkenazi Jewish ancestry, this number is 16.4%.²⁸

Medical and surgical interventions are available to reduce the risk of cancer in people with hereditary cancer syndromes such as HBOC. Options include screening more often, using advanced screening tests,²⁹ giving preventive drugs such as tamoxifen (Nolvadex), and prophylactic surgery.^30–32 What is the evidence that early screening and intervention in these people improve outcomes?

Domcheck et al³³ prospectively followed more than 2,400 women who had BRCA mutations to assess the effect of prophylactic mastectomy or salpingo-oophorectomy on cancer outcomes. Mastectomy was indeed associated with a lower risk of breast cancer: 0 cases of breast cancer were diagnosed in 3 years of prospective follow-up in the 247 women who elected to undergo mastectomy, compared with 98 cases diagnosed in the 1,372 women who did not elect it over a similar period.

Women who elected to undergo salpingo-oophorectomy had a similarly lower rate of ovarian cancer compared with those who did not elect surgery (1% vs 6%). Additionally, fewer women who elected prophylactic salpingo-oophorectomy died of any cause (3% vs 10%), died of breast cancer (2% vs 6%), or died of ovarian cancer (0.4% vs 3%) compared with women who did not elect surgery.

Taking a family history reduces costs

What is the evidence that appropriate use of the family history decreases health care costs? Let us continue with the example of HBOC syndrome due to BRCA mutations.

Given that germline mutations account for 5% to 10% of cases of breast cancer in the United States and that the women who develop cancer associated with such mutations do so at a relatively young age, these mutations account for a disproportionate share of life-years lost due to cancer.³⁴ Through taking a family history, these women at high risk can be identified and referred for genetic testing. Genetic testing, though costly, is more cost-effective than diagnosing and treating cancer.

Anderson et al,³⁴ in 2006, estimated that cost-effective policies on testing and preventive treatment for persons at high risk of breast cancer could save up to $800 million of the more than $8 billion spent each year on breast cancer diagnosis, prevention, and treatment.

Kwon et al,³⁵ in a simulation model (not a study in real patients), compared four different criteria for BRCA testing in women with ovarian cancer to see which strategy would be most cost-effective in preventing breast and ovarian cancers in their first-degree relatives. The best strategy, according to this analysis, is to test women with ovarian cancer for BRCA mutations if they also have a personal history of breast cancer, have a family history of breast or ovarian cancer, or are of Ashkenazi Jewish ancestry. The estimated cost per life-year gained with this strategy was $32,018, much lower than the widely accepted threshold for cost-effectiveness of $50,000 per life-year gained.

Although many professional organizations, including the US Preventive Services Task Force, have endorsed family-history-based eligibility criteria for genetic counseling and BRCA testing, awareness of the value of genetic testing in people who have been prescreened by family history has been relatively slow in seeping out to insurance carriers, especially Medicaid.^12,36 As evidence continues to accumulate showing that this approach can improve outcomes for at-risk family members, reimbursement and time allotted for obtaining and using the family history should be adjusted.

CHALLENGE 3: A KNOWLEDGE GAP IN CLINICIANS

Another challenge often cited as a cause of the underuse of the family history as a predictor of disease risk is that clinicians may not know enough about the topic. Several studies indicated that even when physicians had obtained some components of the family history, they did not document risk appropriately or recognize the significance of the pattern of inheritance observed.^37–39

In a study comparing primary care physicians and gastroenterologists in their use of the family history to predict the risk of hereditary colon cancer, gastroenterologists were more likely to elicit a family history of colorectal cancer and implement appropriate screening strategies, but overall compliance with screening guidelines was suboptimal in both groups.⁴⁰

A 2011 report by an advisory committee to the secretary of the US Department of Health and Human Services concluded that lack of genetics education in medical school limits the integration of genetics into clinical care.⁴¹

How can we close this knowledge gap?

Recognizing a need, the National Coalition for Health Professional Education in Genetics was established in 1996 by the American Medical Association, the American Nurses Association, and the National Human Genome Research Institute (www.nchpeg.org). Its mission is to promote the education of health professionals and access to information about advances in human genetics to improve the health care of the nation. It offers educational materials, including a newly updated “Core Principles in Family History” program, which can be used to educate medical providers and their patients about various concepts related to genetics and family history.

In addition, physicians can use many risk assessment tools based on family history in patient care. Two of the best known are:

• The Gail breast cancer risk assessment model, hosted by the National Cancer Institute (www.cancer.gov/bcrisktool/)
• The FRAX osteoporosis risk assessment model, developed by the World Health Organization (www.shef.ac.uk/FRAX).

As we continue to educate the medical community about the value of the family history in predicting disease, it will be important to increase efforts in medical schools and residency programs and to find new, more interactive ways of teaching these concepts.

A possible strategy is to highlight the use of pedigree drawing to recognize patterns of inheritance.² In a study of physician attitudes toward using patient-generated pedigrees in practice, such as those produced by the US surgeon general’s My Family Health Portrait, 73% of physicians stated that the patient-generated pedigree would improve their ability to assess the risk of disease, and the majority also agreed that it would not extend the time of the assessment.¹⁶

Is this information clinically useful?

Furthermore, knowing they are at risk might empower people and encourage them to engage with the medical system. For example, counseling people at risk of diabetes as reflected in the family history has been shown to increase their understanding of the risk and of preventive behaviors. Further study is needed to determine if such messages can engender lasting changes in behavior across many diseases.^42–46

TOWARD PERSONALIZED CARE

Especially now that caregivers are striving to provide value-based health care with emphasis on preventive care, the family history remains an important tool for detecting risk of disease. The evidence clearly indicates that medical providers have room for improvement in taking a family history and in using it.

We hope that asking patients about family history and recognizing patterns of disease will help us create personalized preventive-care plans, providing greater opportunity to educate and motivate our patients to work with us towards better health. Future solutions need to focus on time-effective ways to collect and analyze family history and on innovative methods of teaching medical providers at all levels to apply the family history to clinical practice.

At the dawn of the genomics era, is the family history still relevant? The answer is a resounding yes.^1,2

The family history is clinically useful because it is a proxy for genetic, environmental, and behavioral risks to health. It can be used to inform risk stratification, allowing for judicious use of screening and opening the door to early and even prophylactic treatment.^3–8 As people live longer, we will need to detect common chronic conditions early in their course so that we can continue to improve health outcomes. Family history can help physicians personalize preventive care for conditions such as diabetes, osteoporosis, and cancers of the breast, colon, and prostate.^2,9–15

However, there is ample evidence that the family history is underused. Most practitioners ask about it infrequently and inconsistently.^16,17 Why is this, and how can we encourage the use of this powerful tool to enhance our daily clinical practice and improve care?

We will discuss here some of the challenges that make it difficult for physicians to collect and use the family history in clinical practice, and review strategies for collecting and using the family history in a more consistent manner. We anticipate that this discussion will be helpful to clinicians, as the family history is an essential input to personalized, preventive care plans.

CHALLENGE 1: ARE PATIENTS’ REPORTS RELIABLE?

A question that often arises when discussing the utility of the family history is the reliability of patients’ reports. Can we trust that patients can accurately report their family history? For many conditions, the answer is yes.^18,19

Ziogas and Anton-Culverl²⁰ asked 1,111 cancer patients whether their relatives had ever had cancer and verified their answers. In more than 95% of cases, if the patient said that a first-degree or second-degree relative did not have cancer of any type, that relative truly did not have cancer. Overall, over-reporting of cancer was rare, occurring in 2.4% of cases.

If the patient said that a relative did have cancer, that statement was usually true as well. The reliability of a report of cancer in first-degree relatives was greater than 75% for most types of cancer (female breast, ovarian, esophageal, colorectal, pancreas, lung, melanoma, brain, thyroid, lymphoma, leukemia). For several of these types of cancer (female breast, colorectal, and brain), the reliability was 90% or higher. For second-degree relatives, the reliability of a reported positive history was moderate (50% to 80%) for the same types of cancer, and for third-degree relatives, the reliability dropped further for all types of cancer except female breast, brain, pancreas, and leukemia, for which the reliability of a positive report remained at 70%.

Wideroff et al²¹ had similar findings in a study of more than 1,000 patients and more than 20,000 of their relatives.

Yoon et al,¹⁸ at the US Centers for Disease Control and Prevention, developed a Web-based risk-assessment tool called Family Healthware, currently undergoing validation trials. They found that patients’ reports were highly reliable for coronary heart disease, stroke, diabetes, and breast, ovarian, and colorectal cancers. They also calculated the degree of risk associated with a positive family history and the prevalence of a family history of each of these diseases.

For the primary care physician, these studies support the reliability of patients’ reports and provide guidance for targeting specific conditions when obtaining a family history.

CHALLENGE 2: NO TIME OR REIMBURSEMENT

Perhaps the most obvious barriers to collecting a family history are lack of time and reimbursement.

Acheson et al,¹⁷ in an observational study of 138 primary care physicians and 4,454 patient visits, found that family history was discussed during 51% of new patient visits and 22% of established patient visits. The rate at which the family history was taken varied from 0% (some physicians never asked) to 81% of all patient visits. On average, physicians spent less than 2.5 minutes collecting the family history.

Not surprisingly, the family history was discussed more often at well-care visits than at illness visits, as the former type of visit tends to be longer and, by definition, to be spent partly on preventive care. A difficulty with this strategy is that, given the shortage of primary care physicians, limited access, and patient preference, most preventive-care visits are combined with problem-focused visits, further decreasing the time available to collect and discuss a family history. While some argue that the family history should routinely be obtained and discussed during preventive-care visits regardless of reimbursement and time, the reality is that it may simply drop on the list of priorities for each visit.

Rich et al³ estimated that taking a family history would increase reimbursement for only one new patient evaluation and management code (99202) and one return-visit code (99213) in Current Procedural Terminology. This action would increase reimbursement enough to support about 10 minutes of physician effort for collecting, documenting, and analyzing the family history. While this is certainly better than the average of less than 2.5 minutes observed by Acheson et al,¹⁷ doctors would probably do it more if they were paid more for it.

Electronic solutions

Given that a lack of time is a barrier, what are some ways to minimize the time it takes to collect a family history?

With more physicians using electronic health records and with increasing use of Internet-based tools in the population at large, information-technology systems have been developed to help obtain the family history. One of the most widely used is the US surgeon general’s My Family Health Portrait, available free at https://familyhistory.hhs.gov. It is one of the broadest electronic family-history collection tools and has been validated for use in risk assessment for diabetes and cancer of the colon, breast, and ovaries.²²

However, electronic solutions have their own challenges. Not all patients have access to the Internet, many need help using these programs, and these tools may not work well with existing electronic medical records systems.²³ Ideally, these programs would also provide built-in decision support for the provider, thereby maximizing data use for final patient risk assessment.²³ Furthermore, electronic solutions are not a one-time-only risk assessment— periodic re-review of family history and reassessment of familial risk are required.²⁴

Does taking a family history improve outcomes? Lessons from breast cancer

One of the reasons physicians don’t get reimbursed for collecting a family history is that it has been difficult to measure any improvement in outcomes associated with risk prediction through family history.

The best examples of improvement in outcomes associated with family history-based risk prediction come from studies of breast cancer. From 5% to 10% of cases of breast cancer are part of hereditary cancer syndromes, many of which have a known genetic cause. The most prevalent of these genetic syndromes is the hereditary breast and ovarian cancer (HBOC) syndrome, caused by mutations in the breast cancer 1 (BRCA1) and breast cancer 2 (BRCA2) genes. Clinical testing for BRCA mutations has been available since 1998.²⁵ Women with a BRCA mutation have up to a 65% lifetime risk of developing breast cancer and up to a 40% lifetime risk of developing ovarian cancer.²⁶ Men with a BRCA mutation are at 10 to 100 times the risk of the general population (1% to 10% vs 0.1%) for developing breast cancer, and are also at higher risk of prostate and other cancers.²⁷

People who have a relative who developed breast cancer at a young age are more likely to harbor one of these mutations. For example, based on genetic testing in more than 185,000 people, the prevalence of BRCA mutations among people without cancer, not of Ashkenazi Jewish ancestry (a risk factor for breast cancer), and with no family history of early breast cancer or of ovarian cancer in any relative is 1.5%.²⁸ In contrast, people with no personal history of cancer who have a family history of breast cancer before age 50 have a 5.6% prevalence of BRCA mutation, and if they are of Ashkenazi Jewish ancestry, this number is 16.4%.²⁸

Medical and surgical interventions are available to reduce the risk of cancer in people with hereditary cancer syndromes such as HBOC. Options include screening more often, using advanced screening tests,²⁹ giving preventive drugs such as tamoxifen (Nolvadex), and prophylactic surgery.^30–32 What is the evidence that early screening and intervention in these people improve outcomes?

Domcheck et al³³ prospectively followed more than 2,400 women who had BRCA mutations to assess the effect of prophylactic mastectomy or salpingo-oophorectomy on cancer outcomes. Mastectomy was indeed associated with a lower risk of breast cancer: 0 cases of breast cancer were diagnosed in 3 years of prospective follow-up in the 247 women who elected to undergo mastectomy, compared with 98 cases diagnosed in the 1,372 women who did not elect it over a similar period.

Women who elected to undergo salpingo-oophorectomy had a similarly lower rate of ovarian cancer compared with those who did not elect surgery (1% vs 6%). Additionally, fewer women who elected prophylactic salpingo-oophorectomy died of any cause (3% vs 10%), died of breast cancer (2% vs 6%), or died of ovarian cancer (0.4% vs 3%) compared with women who did not elect surgery.

Taking a family history reduces costs

What is the evidence that appropriate use of the family history decreases health care costs? Let us continue with the example of HBOC syndrome due to BRCA mutations.

Given that germline mutations account for 5% to 10% of cases of breast cancer in the United States and that the women who develop cancer associated with such mutations do so at a relatively young age, these mutations account for a disproportionate share of life-years lost due to cancer.³⁴ Through taking a family history, these women at high risk can be identified and referred for genetic testing. Genetic testing, though costly, is more cost-effective than diagnosing and treating cancer.

Anderson et al,³⁴ in 2006, estimated that cost-effective policies on testing and preventive treatment for persons at high risk of breast cancer could save up to $800 million of the more than $8 billion spent each year on breast cancer diagnosis, prevention, and treatment.

Kwon et al,³⁵ in a simulation model (not a study in real patients), compared four different criteria for BRCA testing in women with ovarian cancer to see which strategy would be most cost-effective in preventing breast and ovarian cancers in their first-degree relatives. The best strategy, according to this analysis, is to test women with ovarian cancer for BRCA mutations if they also have a personal history of breast cancer, have a family history of breast or ovarian cancer, or are of Ashkenazi Jewish ancestry. The estimated cost per life-year gained with this strategy was $32,018, much lower than the widely accepted threshold for cost-effectiveness of $50,000 per life-year gained.

Although many professional organizations, including the US Preventive Services Task Force, have endorsed family-history-based eligibility criteria for genetic counseling and BRCA testing, awareness of the value of genetic testing in people who have been prescreened by family history has been relatively slow in seeping out to insurance carriers, especially Medicaid.^12,36 As evidence continues to accumulate showing that this approach can improve outcomes for at-risk family members, reimbursement and time allotted for obtaining and using the family history should be adjusted.

CHALLENGE 3: A KNOWLEDGE GAP IN CLINICIANS

Another challenge often cited as a cause of the underuse of the family history as a predictor of disease risk is that clinicians may not know enough about the topic. Several studies indicated that even when physicians had obtained some components of the family history, they did not document risk appropriately or recognize the significance of the pattern of inheritance observed.^37–39

In a study comparing primary care physicians and gastroenterologists in their use of the family history to predict the risk of hereditary colon cancer, gastroenterologists were more likely to elicit a family history of colorectal cancer and implement appropriate screening strategies, but overall compliance with screening guidelines was suboptimal in both groups.⁴⁰

A 2011 report by an advisory committee to the secretary of the US Department of Health and Human Services concluded that lack of genetics education in medical school limits the integration of genetics into clinical care.⁴¹

How can we close this knowledge gap?

Recognizing a need, the National Coalition for Health Professional Education in Genetics was established in 1996 by the American Medical Association, the American Nurses Association, and the National Human Genome Research Institute (www.nchpeg.org). Its mission is to promote the education of health professionals and access to information about advances in human genetics to improve the health care of the nation. It offers educational materials, including a newly updated “Core Principles in Family History” program, which can be used to educate medical providers and their patients about various concepts related to genetics and family history.

In addition, physicians can use many risk assessment tools based on family history in patient care. Two of the best known are:

• The Gail breast cancer risk assessment model, hosted by the National Cancer Institute (www.cancer.gov/bcrisktool/)
• The FRAX osteoporosis risk assessment model, developed by the World Health Organization (www.shef.ac.uk/FRAX).

As we continue to educate the medical community about the value of the family history in predicting disease, it will be important to increase efforts in medical schools and residency programs and to find new, more interactive ways of teaching these concepts.

A possible strategy is to highlight the use of pedigree drawing to recognize patterns of inheritance.² In a study of physician attitudes toward using patient-generated pedigrees in practice, such as those produced by the US surgeon general’s My Family Health Portrait, 73% of physicians stated that the patient-generated pedigree would improve their ability to assess the risk of disease, and the majority also agreed that it would not extend the time of the assessment.¹⁶

Is this information clinically useful?

Furthermore, knowing they are at risk might empower people and encourage them to engage with the medical system. For example, counseling people at risk of diabetes as reflected in the family history has been shown to increase their understanding of the risk and of preventive behaviors. Further study is needed to determine if such messages can engender lasting changes in behavior across many diseases.^42–46

TOWARD PERSONALIZED CARE

Especially now that caregivers are striving to provide value-based health care with emphasis on preventive care, the family history remains an important tool for detecting risk of disease. The evidence clearly indicates that medical providers have room for improvement in taking a family history and in using it.

We hope that asking patients about family history and recognizing patterns of disease will help us create personalized preventive-care plans, providing greater opportunity to educate and motivate our patients to work with us towards better health. Future solutions need to focus on time-effective ways to collect and analyze family history and on innovative methods of teaching medical providers at all levels to apply the family history to clinical practice.

The concept and promise of personalized health care have been anticipated for decades. Yet in its breadth and in the way we would like it practiced, it is in its infancy.

Personalized health care aims to individualize care by integrating a person’s unique clinical, molecular (ie, genetic, genomic), and environmental information. Applied not only when the patient is sick but also when he or she is well, it builds on and enhances our current standards of care.

As Sir William Osler recognized more than a century ago, “Variability is the law of life, and as no two faces are the same, so no two bodies are alike, and no two individuals react alike and behave alike under the abnormal conditions which we know as disease.”¹

PREDICTING THE RISK OF DISEASE

For years, we have attempted to predict and stratify the risk of disease, and the Human Genome Project has given us a new set of tools to help understand the complexity of disease and its variability.

We know and have known for decades—and in some cultures, for centuries—that family history is the most clinically validated tool for predicting the risk of disease.

Nevertheless, evidence suggests that we physicians are not collecting adequate family histories, and because of this, we are missing opportunities to intervene and prevent diseases predicted by the family history. The current standard of care is to use family medical histories to hone genetic differential diagnoses, and based on the differential diagnoses, to target specific genes to test in the setting of genetic counseling. Current genetic testing is used for molecular diagnoses and predictive testing so that gene-specific clinical management can be subsequently tailored.

PREDICTING RESPONSE TO TREATMENT

The use of personalized health care to predict response to treatment is a novel and constantly evolving practice.

ABO blood typing is a form of genetics-based personalization of safe transfusion that dates back to World War II.

A prominent, recent success story is in cancer treatment. For example, the American Society of Clinical Oncology now recommends that tumors from patients with node-negative, estrogen-receptor-positive breast cancer be evaluated with the Oncotype DX assay.² This test measures the expression of 21 genes, and the score obtained identifies patients most likely to benefit from adjuvant chemotherapy. A similar 12-gene expression signature has been developed for colon cancer, and others have been developed for hematologic cancers.^2,3 As with other new but apparently valid tests, the risk scores derived are sensitive at the extremes but ambiguous in the mid-ranges. We anticipate many more developments in this field.

In the field of pharmacogenomics, there is evidence to suggest that prior knowledge of CYP2C9 and VKORC1 genotypes enhances outcomes for patients starting treatment with warfarin. The US Food and Drug Administration revised the label on warfarin in February 2010, suggesting that genotypes be taken into consideration when the drug is prescribed.⁴

However, clinicians have been slow to adopt genotype testing when prescribing warfarin. Some cite the paucity of large, randomized, controlled trials demonstrating clinical utility of genotype-informed prescribing. Others cite concern that warfarin will soon become obsolete with the arrival of newer anticoagulants (such as factor X inhibitors) that do not carry warfarin’s adverse effects, and these genotypes will therefore become moot. Perhaps, as we move forward and new drugs are developed, companion genotype tests could be developed at the same time to be used with them.⁵

IMPROVING CARE, SAVING MONEY, AND EMPOWERING PATIENTS

The goal of personalized health care, by customizing treatments (medication types and dosages) and preventive strategies, is to optimize medical care and improve outcomes for each patient. It could improve the quality of care by targeting interventions and reducing adverse events, topics that are important to all of us in the current environment of health care reform.

A personalized approach might also, in the long run, decrease the cost of health care by driving appropriate utilization of resources.

Lastly, the true value of personalized health care may be in its potential to improve patient satisfaction and to empower our patients to work with us towards better health.

WE LAUNCH A NEW SERIES

To keep physicians up-to-date on progress in personalized health care, the Cleveland Clinic Journal of Medicine will present a series of articles on the topic. The series, to run once a quarter, begins in this issue, on page 331, with an article on the importance of the family history as a piece of genetic information that can help to predict the risk of disease and inform preventive care plans. Future topics will include the role of genetics and genomics in personalized care of patients with breast and colorectal cancers; the genetic counselor as a part of the health care team; pharmacogenomics; and ethical, legal, and societal considerations.

Our goal in this series is to provide practical information to help our readers incorporate personalized approaches into daily practice. In addition, as patients become more interested in and informed about personalized health care, we hope this information will help clinicians to effectively coach them about its potential benefits and risks. We also hope this information will enable our readers to ask the right questions so that patient and health care provider can work together to help the patient grow old gracefully.

As the series unfolds, we ask you to send us feedback and to suggest other topics in personalized health care you would like us to cover in this series.

The concept and promise of personalized health care have been anticipated for decades. Yet in its breadth and in the way we would like it practiced, it is in its infancy.

Personalized health care aims to individualize care by integrating a person’s unique clinical, molecular (ie, genetic, genomic), and environmental information. Applied not only when the patient is sick but also when he or she is well, it builds on and enhances our current standards of care.

As Sir William Osler recognized more than a century ago, “Variability is the law of life, and as no two faces are the same, so no two bodies are alike, and no two individuals react alike and behave alike under the abnormal conditions which we know as disease.”¹

PREDICTING THE RISK OF DISEASE

For years, we have attempted to predict and stratify the risk of disease, and the Human Genome Project has given us a new set of tools to help understand the complexity of disease and its variability.

We know and have known for decades—and in some cultures, for centuries—that family history is the most clinically validated tool for predicting the risk of disease.

Nevertheless, evidence suggests that we physicians are not collecting adequate family histories, and because of this, we are missing opportunities to intervene and prevent diseases predicted by the family history. The current standard of care is to use family medical histories to hone genetic differential diagnoses, and based on the differential diagnoses, to target specific genes to test in the setting of genetic counseling. Current genetic testing is used for molecular diagnoses and predictive testing so that gene-specific clinical management can be subsequently tailored.

PREDICTING RESPONSE TO TREATMENT

The use of personalized health care to predict response to treatment is a novel and constantly evolving practice.

ABO blood typing is a form of genetics-based personalization of safe transfusion that dates back to World War II.

A prominent, recent success story is in cancer treatment. For example, the American Society of Clinical Oncology now recommends that tumors from patients with node-negative, estrogen-receptor-positive breast cancer be evaluated with the Oncotype DX assay.² This test measures the expression of 21 genes, and the score obtained identifies patients most likely to benefit from adjuvant chemotherapy. A similar 12-gene expression signature has been developed for colon cancer, and others have been developed for hematologic cancers.^2,3 As with other new but apparently valid tests, the risk scores derived are sensitive at the extremes but ambiguous in the mid-ranges. We anticipate many more developments in this field.

In the field of pharmacogenomics, there is evidence to suggest that prior knowledge of CYP2C9 and VKORC1 genotypes enhances outcomes for patients starting treatment with warfarin. The US Food and Drug Administration revised the label on warfarin in February 2010, suggesting that genotypes be taken into consideration when the drug is prescribed.⁴

However, clinicians have been slow to adopt genotype testing when prescribing warfarin. Some cite the paucity of large, randomized, controlled trials demonstrating clinical utility of genotype-informed prescribing. Others cite concern that warfarin will soon become obsolete with the arrival of newer anticoagulants (such as factor X inhibitors) that do not carry warfarin’s adverse effects, and these genotypes will therefore become moot. Perhaps, as we move forward and new drugs are developed, companion genotype tests could be developed at the same time to be used with them.⁵

IMPROVING CARE, SAVING MONEY, AND EMPOWERING PATIENTS

The goal of personalized health care, by customizing treatments (medication types and dosages) and preventive strategies, is to optimize medical care and improve outcomes for each patient. It could improve the quality of care by targeting interventions and reducing adverse events, topics that are important to all of us in the current environment of health care reform.

A personalized approach might also, in the long run, decrease the cost of health care by driving appropriate utilization of resources.

Lastly, the true value of personalized health care may be in its potential to improve patient satisfaction and to empower our patients to work with us towards better health.

WE LAUNCH A NEW SERIES

To keep physicians up-to-date on progress in personalized health care, the Cleveland Clinic Journal of Medicine will present a series of articles on the topic. The series, to run once a quarter, begins in this issue, on page 331, with an article on the importance of the family history as a piece of genetic information that can help to predict the risk of disease and inform preventive care plans. Future topics will include the role of genetics and genomics in personalized care of patients with breast and colorectal cancers; the genetic counselor as a part of the health care team; pharmacogenomics; and ethical, legal, and societal considerations.

Our goal in this series is to provide practical information to help our readers incorporate personalized approaches into daily practice. In addition, as patients become more interested in and informed about personalized health care, we hope this information will help clinicians to effectively coach them about its potential benefits and risks. We also hope this information will enable our readers to ask the right questions so that patient and health care provider can work together to help the patient grow old gracefully.

As the series unfolds, we ask you to send us feedback and to suggest other topics in personalized health care you would like us to cover in this series.

The concept and promise of personalized health care have been anticipated for decades. Yet in its breadth and in the way we would like it practiced, it is in its infancy.

Personalized health care aims to individualize care by integrating a person’s unique clinical, molecular (ie, genetic, genomic), and environmental information. Applied not only when the patient is sick but also when he or she is well, it builds on and enhances our current standards of care.

As Sir William Osler recognized more than a century ago, “Variability is the law of life, and as no two faces are the same, so no two bodies are alike, and no two individuals react alike and behave alike under the abnormal conditions which we know as disease.”¹

PREDICTING THE RISK OF DISEASE

For years, we have attempted to predict and stratify the risk of disease, and the Human Genome Project has given us a new set of tools to help understand the complexity of disease and its variability.

We know and have known for decades—and in some cultures, for centuries—that family history is the most clinically validated tool for predicting the risk of disease.

Nevertheless, evidence suggests that we physicians are not collecting adequate family histories, and because of this, we are missing opportunities to intervene and prevent diseases predicted by the family history. The current standard of care is to use family medical histories to hone genetic differential diagnoses, and based on the differential diagnoses, to target specific genes to test in the setting of genetic counseling. Current genetic testing is used for molecular diagnoses and predictive testing so that gene-specific clinical management can be subsequently tailored.

PREDICTING RESPONSE TO TREATMENT

The use of personalized health care to predict response to treatment is a novel and constantly evolving practice.

ABO blood typing is a form of genetics-based personalization of safe transfusion that dates back to World War II.

A prominent, recent success story is in cancer treatment. For example, the American Society of Clinical Oncology now recommends that tumors from patients with node-negative, estrogen-receptor-positive breast cancer be evaluated with the Oncotype DX assay.² This test measures the expression of 21 genes, and the score obtained identifies patients most likely to benefit from adjuvant chemotherapy. A similar 12-gene expression signature has been developed for colon cancer, and others have been developed for hematologic cancers.^2,3 As with other new but apparently valid tests, the risk scores derived are sensitive at the extremes but ambiguous in the mid-ranges. We anticipate many more developments in this field.

In the field of pharmacogenomics, there is evidence to suggest that prior knowledge of CYP2C9 and VKORC1 genotypes enhances outcomes for patients starting treatment with warfarin. The US Food and Drug Administration revised the label on warfarin in February 2010, suggesting that genotypes be taken into consideration when the drug is prescribed.⁴

However, clinicians have been slow to adopt genotype testing when prescribing warfarin. Some cite the paucity of large, randomized, controlled trials demonstrating clinical utility of genotype-informed prescribing. Others cite concern that warfarin will soon become obsolete with the arrival of newer anticoagulants (such as factor X inhibitors) that do not carry warfarin’s adverse effects, and these genotypes will therefore become moot. Perhaps, as we move forward and new drugs are developed, companion genotype tests could be developed at the same time to be used with them.⁵

IMPROVING CARE, SAVING MONEY, AND EMPOWERING PATIENTS

The goal of personalized health care, by customizing treatments (medication types and dosages) and preventive strategies, is to optimize medical care and improve outcomes for each patient. It could improve the quality of care by targeting interventions and reducing adverse events, topics that are important to all of us in the current environment of health care reform.

A personalized approach might also, in the long run, decrease the cost of health care by driving appropriate utilization of resources.

Lastly, the true value of personalized health care may be in its potential to improve patient satisfaction and to empower our patients to work with us towards better health.

WE LAUNCH A NEW SERIES

To keep physicians up-to-date on progress in personalized health care, the Cleveland Clinic Journal of Medicine will present a series of articles on the topic. The series, to run once a quarter, begins in this issue, on page 331, with an article on the importance of the family history as a piece of genetic information that can help to predict the risk of disease and inform preventive care plans. Future topics will include the role of genetics and genomics in personalized care of patients with breast and colorectal cancers; the genetic counselor as a part of the health care team; pharmacogenomics; and ethical, legal, and societal considerations.

Our goal in this series is to provide practical information to help our readers incorporate personalized approaches into daily practice. In addition, as patients become more interested in and informed about personalized health care, we hope this information will help clinicians to effectively coach them about its potential benefits and risks. We also hope this information will enable our readers to ask the right questions so that patient and health care provider can work together to help the patient grow old gracefully.

As the series unfolds, we ask you to send us feedback and to suggest other topics in personalized health care you would like us to cover in this series.

Prostate cancer is the most common cancer affecting American men. In 2010, an estimated 217,730 men were diagnosed with it and 32,050 died of it.¹ African American men are disproportionately affected, with a prostate cancer incidence two-thirds higher than whites and a mortality rate twice as high.¹ Owing to such disparities, the life expectancy of African Americans is several years shorter than that of non-Hispanic whites.²

For the primary care provider, who is often the first access point for health care in the United States, it is important to understand what mechanisms may underlie these differences and what can be done to narrow the gap.³

WHAT IS THE CAUSE OF THESE DIFFERENCES?

Many studies have looked into the causes of the higher incidence of prostate cancer in African American men and their higher mortality rate from it. The disparity may be due to a variety of factors, some socioeconomic and some biologic.

Poorer access to care, or lower-quality care?

A study of US servicemen who had equal access to care showed that African American men had a higher rate of prostate cancer regardless of access to care and socioeconomic status.⁴

However, the 2002 Institute of Medicine report, Unequal Treatment: Confronting Racial and Ethnic Disparities in Health Care, found evidence that racial and ethnic minorities tend to receive lower-quality health care than whites, “even when access-related factors, such as patients’ insurance status and income, are controlled.”⁵

Genetic predisposition?

Some have proposed that the disparity may be a function of genetic predisposition.

Evidence of a genetic component to the high incidence and mortality rate in African American men comes from epidemiologic studies of men with similar genetic backgrounds. For example, men in Nigeria and Ghana also have a high incidence of prostate cancer, as do men of African descent in the Caribbean islands and in the United Kingdom.⁶

Chromosome 8q24 variants have been shown in several studies to be associated with prostate cancer risk and are more common in African American men.^7–10 Some studies have also shown a higher rate of variations in cell apoptosis genes such as BCL2¹¹ and tumor-suppression genes such as EphB2 in African American men.¹²

These findings suggest that genetic differences may contribute to the higher prostate cancer incidence and mortality rate seen in African American men.

More-aggressive cancer, or later detection?

Not only do African American men tend to have a higher incidence of prostate cancer, they also tend to have more-aggressive disease (ie, a higher pathologic grade) at the time of diagnosis, which may contribute to the disparity in mortality rates.^13–19

Initially, there was some controversy as to whether this observation is a result of genetic and biologic factors that may predispose African American men to more-aggressive disease, or if it is due to inadequate screening and delayed presentation. However, a body of evidence supports the contention that prostate cancer is more aggressive in African American men.

For example, a study of autopsy data from men who died of prostate cancer at ages 20 to 49 showed that the age of onset of prostate cancer was similar between African American and white men.²⁰ The Surveillance Epidemiology and End Results (SEER) database showed that African American men had a higher incidence of metastatic disease across all age groups.²⁰ A similar study conducted 10 years later confirmed that rates of subclinical prostate cancer in African American and white men do not differ by race at the early ages, but that advanced or metastatic disease occurred nearly four times as frequently in African American men.²¹

Another study examined prostate biopsies from African American men and found that their tumors expressed higher levels of biomarkers, suggesting they had more-aggressive disease.²²

SCREENING FOR PROSTATE CANCER

Serum prostate-specific antigen (PSA) testing has become the method of choice for prostate cancer screening. However, PSA screening in asymptomatic men is under debate, because it can lead to overdetection and subsequent overtreatment of indolent disease.²³

Several recent studies showed differing results from prostate cancer screening.

The US Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial found that the mortality rate was no lower with combined PSA screening and digital rectal examination during a median follow-up of 11 years than in a control group that had a lower rate of screening.²⁴ However, further analysis of these data, with stratifying by comorbidities, showed that PSA screening in young and healthy men reduces the risk of death from prostate cancer, with minimal overtreatment.²⁵

The European Randomized Study of Screening for Prostate Cancer found a statistically significant 20% reduction in deaths from prostate cancer with PSA screening, but that it was necessary to treat 48 men in order to save one life.²⁶

Another study, published in 2010, showed that regular PSA screening reduced the rate of prostate cancer mortality by half over 14 years.²⁷

African American men generally present with disease that is more advanced than in white men.²⁸ This historically has been attributed to the fact that African Americans have been less likely to be screened for prostate cancer, though recent data indicate the gap is lessening.^29–31 A cross-sectional study from the Texas Medical Center showed that 54.4% of African American men had received PSA screening, compared with 63.2% of white men.³²

Another study showed that African Americans were more likely to have had a longer interval between PSA screenings before diagnosis, and that a longer PSA screening interval was associated with greater odds of having advanced disease at diagnosis.³³ However, when the researchers controlled for the PSA screening interval, they found that African Americans had the same odds of being diagnosed with advanced prostate cancer as white patients did. They concluded that more frequent or systematic PSA screening may reduce the racial differences in cancer stage at diagnosis and in deaths.

Many reasons have been proposed to explain why African Americans receive less screening, including poor communication between physicians and minority patients due to lack of cultural competency among physicians, lack of health insurance (and poor access to quality care as a result), and deficiency of knowledge about screening. Though awareness is rising, many African Americans are unaware of early detection methods for prostate cancer (eg, PSA testing), and other barriers such as cost and transportation exist that may prevent African American men from being screened.^34,35

As gatekeepers, primary care physicians are in a position to address these shortcomings in patient education and to enhance the physician-patient relationship.³⁶

Black men have higher PSA levels, with or without cancer

Physicians must also be aware of racial differences in PSA levels and realize that the predictive value of PSA in the diagnosis of prostate cancer may differ between African Americans and whites.

Black men, with or without prostate cancer, have been found to have higher PSA levels. Kyle and colleagues³⁷ found that African American men without prostate cancer had significantly higher mean PSA levels than white men across all age groups. Furthermore, Vijayakumar et al³⁸ found that African Americans with newly diagnosed localized prostate cancer had higher serum PSA levels than whites at diagnosis.

Although PSA cutoff levels have not been officially modified according to race, primary care physicians should have a lower threshold for referring African American men who have a suspiciously high PSA level for further urologic evaluation. Close partnership between the internist, family practitioner, and urologist will aid in the optimal use of PSA testing for the early detection of prostate cancer.

When to start PSA screening? How often to screen?

The age at which African American men should begin to have their PSA levels checked (with or without a digital rectal examination) continues to debated. However, the American Cancer Society³⁹ recommends that African American men who have a father or brother who had prostate cancer before age 65 should begin having discussions with their physician on this topic and, with their informed consent, screening at age 45.

The frequency of PSA screening depends on the individual’s PSA level. The National Comprehensive Cancer Network⁴⁰ recommends that men at high risk be offered a baseline PSA measurement and digital rectal examination at age 40 and, if the PSA level is higher than 1 ng/mL, that they be offered annual follow-ups. If the PSA level is less than 1 ng/mL, they recommend screening again at age 45. Risk factors for prostate cancer include family history as well as African American race.⁴¹

How should PSA levels be interpreted?

Interpreting PSA results is important in detecting prostate cancer at early stages.

At first, we believed the normal range of PSA for all men was 4.0 ng/mL or less. However, the American Urological Association now recognizes that the normal PSA range, in addition to varying along racial lines, also is age-dependent.⁴² The Cleveland Clinic Minority Men's Health Center's suggested normal ranges of PSA in African American men are:

• Age 40–49: ≤ 2.5 ng/mL
• Age 50–59: ≤ 3.0 ng/mL
• Age 60–69: ≤ 3.5 ng/mL
• Age 70–79: ≤ 4.5 ng/mL
• Age > 80: ≤ 5.0 ng/mL.

Remember that an elevated PSA does not necessarily signify prostate cancer, and that these are reference ranges only and may vary in individual men.

SURVIVAL AFTER DIAGNOSIS

African American men with prostate cancer have significantly higher mortality rates than white men. The possible causes of worse outcomes are many, and there have been many studies that attempted to address this disparity. The question of a more biologically aggressive cancer was previously discussed, but additional factors such as socioeconomic factors, comorbidities, and treatment received have also been studied, and data are mixed.^43–45

In a large SEER database review, once confounding variables of socioeconomic status, cancer stage, and treatment received were eliminated, African Americans had similar stage-for-stage survival from prostate cancer.⁴⁶ Another study found, in 2,046 men, that differences in socioeconomic status explained the difference in mortality rates between white and black patients.⁴⁷

However, other studies that adjusted for socioeconomic status as well as patient and tumor characteristics found that African American and Hispanic men were more likely to die of prostate cancer than white men.⁴⁸

Do African American men receive less-aggressive care?

Studies have also determined that there may be differences in treatments offered to patients, which in turn negatively affect survival.^28,49–53 Potentially curative local therapies (including radical surgery or radiation) may be recommended less often to black men because of major comorbidities or socioeconomic considerations.^49–52

Additionally, potential metastatic disease may be identified in a less timely and accurate manner, as African American men are less likely to undergo pelvic lymph node dissection. This was associated with worse survival in men with poorly differentiated prostate cancer.⁵³

However, returning to the possibility that prostate cancer is biologically more aggressive in African American men, some studies have shown that even after adjusting for treatment, African Americans continue to have worse survival rates.^54,55 One study in men with stage T1 to T3 prostate cancer who chose brachytherapy for treatment reported that after adjusting for PSA, clinical stage, socioeconomic status, and comorbidities, African American and Hispanic race were associated with higher all-cause mortality rates.⁵⁵

Equal care, equal outcomes?

In total, these results suggest that factors unrelated to tumor biology may be additional reasons for the poorer survival rates in African American men with prostate cancer. More favorable survival outcomes for African Americans with localized disease may be achieved with uniform assignment of treatment.

Fowler and Terrell⁵⁶ reviewed the outcomes of 148 black and 209 white men with localized prostate cancer treated with surgery or radiation therapy over an 11-year period at a Veterans Administration hospital. Not surprisingly, the black men presented more often with advanced disease. However, survival outcomes were equivalent between whites and blacks when treatment was assigned in a uniform manner without regard to race. After a median follow-up of 96 months, there were no significant differences in all-cause, cause-specific, metastasis-free, clinical disease-free, or PSA recurrence-free survival rates in 109 black and 167 white men with low-stage cancer treated with surgery or radiation therapy or in 39 black and 42 white men with high-stage disease treated with radiotherapy.⁵⁶

Similarly, Tewari et al⁵⁷ studied a cohort of 402 African American and 642 white men, all of whom underwent radical prostatectomy for clinically localized prostate cancer. They were followed for PSA recurrence to determine if race-specific differences in PSA doubling time or histopathologic variables might account for the higher mortality rate in black men. While there were race-specific differences in baseline serum PSA and incidence of high-grade prostatic intraepithelial neoplasia, race was not an independent risk factor for biochemical recurrence. Instead, other variables such as the Gleason pathology score, bilateral cancers, and margin positivity were independently associated with biochemical recurrence.

Furthermore, researchers at Louisiana State University⁵⁸ retrospectively analyzed data from 205 men of different races with early-stage prostate cancer. The African American men had a higher serum PSA level, suggesting more advanced disease or greater tumor burden at presentation, but no statistically significant differences were found among the pretreatment biopsy variables, including prostate volume (measured by ultrasonography), Gleason score, millimeters of cancer within the biopsy specimen, and percentage of cancer within the biopsy specimen. After treatment, there were no significant differences in survival outcomes along racial lines, leading the authors to conclude that early detection and treatment of prostate cancer in African Americans would be the best approach to lowering mortality rates.

Taken together, these data suggest that if localized prostate cancer is treated adequately and appropriately, African American patients may have improved survival rates.

DIETARY AND LIFESTYLE FACTORS

The incidence of prostate cancer is increasing in other countries where Western diets and lifestyles have been adopted,^59,60 suggesting that nutritional factors may also contribute partly to prostate carcinogenesis. Culture- and race-specific differences in diet may play an important role in prostate cancer risk in certain racial minorities. Many aspects of diet and nutrition have been studied for their impact on prostate cancer.

Dietary risk factors

Too much red meat and processed meat? Although some have suggested that diets high in red and processed meats may lead to a higher risk of prostate cancer, a meta-analysis showed no association.^61,62

Too much calcium? The European Prospective Investigation Into Cancer and Nutrition study found that high dietary intake of dairy protein and calcium from dairy products was associated with a higher risk of prostate cancer.⁶³ A cohort study in the United States had similar findings with regard to calcium.⁶⁴ However, the higher risk of prostate cancer was associated with consumption of 2,000 mg or more of calcium per day, which was consumed by only 2% of the study’s cohort and, as the study’s authors reported, fewer than 1% of US men. As such, only a small population of American men seem to be exposing themselves to a higher risk of prostate cancer by high calcium consumption.

High fat intake? Certain fatty acids have been implicated in general tumor genesis, and that risk has been extrapolated to prostate cancer.⁶⁵ For example, high fat intake and obesity are associated with increased levels of insulin-like growth factor 1, which in turn has been shown to correlate with a significantly elevated risk of prostate cancer.^63,65

Obesity has been shown to increase the risk of more-aggressive prostate cancer, but not of less-aggressive tumors.⁶⁶ Moreover, men who lost weight had a lower risk of prostate cancer than those who maintained their weight over 10 years.⁶⁶ Obesity may be particularly risky for African American men, in whom it was found to be associated with shorter biochemical relapse-free survival, whereas it was not an independent risk factor in white men.⁶⁷

Preventive dietary agents have been elusive

Unfortunately, despite attempts to identify preventive dietary agents, none has yet been confirmed.

No benefit from selenium or vitamin E. The Selenium and Vitamin E Cancer Prevention Trial was discontinued, as there was no evidence that either agent prevented prostate cancer in relatively healthy men.⁶⁸

Vitamin D? It has been suggested that lower levels of vitamin D could contribute to the higher rates of prostate cancer in African Americans, as vitamin D deficiency is more common in African Americans.⁶⁹ However, several meta-analyses have shown no association between vitamin D and prostate cancer.^70–72

Soy? Attempts at correlating the relatively low incidence of prostate cancer in Asians have revealed that high soy intake may be protective. Asians consume more soy than Americans do (100 vs 3 mg/day), and soy isoflavones such as genistein, glycitein, and daidzein lower the incidence of prostate cancer in laboratory mice.⁷³

Other lifestyle factors

Other lifestyle factors have also been analyzed to see if they contribute to prostate cancer.

Pollution. Some studies have suggested that the etiology of prostate cancer may lie in environmental exposures to pesticides,⁷⁴ metal industrial facilities,⁷⁵ and urban living.⁷⁶

Smoking. Watters et al⁷⁷ found that current and former cigarette smokers were actually at a lower risk of being diagnosed with non-advanced prostate cancer, but current smokers were at higher risk of dying from prostate cancer.

Physical activity. A prospective study of lifetime physical activity of more than 45,000 men found that men who were not sedentary during work and who walked or bicycled more than 30 minutes per day during adult life had an approximately 20% lower incidence of prostate cancer.⁷⁸

In sum, primary care providers who are generally promoting healthy lifestyles can point to a reduction in risk for prostate cancer as yet another benefit to a low-fat diet, a healthy body mass index, and daily exercise.

HOW PRIMARY CARE PHYSICIANS CAN HELP CLOSE THE GAP

Primary care physicians serve as the first point of health access for many in the United States today.

The diagnosis of prostate cancer is made more frequently in African American men than in other American men, often at a higher pathological grade, and with a worse mortality rate. Primary care physicians can help improve these statistics. Interventions targeting overall health, such as promotion of a healthy diet, could be established at primary care visits and could also reduce the incidence of prostate cancer in African American men. Patient education regarding prostate cancer screening, the impact of family history, and the rate of PSA screening could be improved.

Primary care physicians serve a vital role in health education and prostate cancer screening, and therefore they begin the process in potentially reducing the impact of prostate cancer in African American men. The racial disparity seen in prostate cancer may begin to be minimized with primary care physicians and specialists working together to ensure that all men receive appropriate treatment.

Prostate cancer is the most common cancer affecting American men. In 2010, an estimated 217,730 men were diagnosed with it and 32,050 died of it.¹ African American men are disproportionately affected, with a prostate cancer incidence two-thirds higher than whites and a mortality rate twice as high.¹ Owing to such disparities, the life expectancy of African Americans is several years shorter than that of non-Hispanic whites.²

For the primary care provider, who is often the first access point for health care in the United States, it is important to understand what mechanisms may underlie these differences and what can be done to narrow the gap.³

WHAT IS THE CAUSE OF THESE DIFFERENCES?

Many studies have looked into the causes of the higher incidence of prostate cancer in African American men and their higher mortality rate from it. The disparity may be due to a variety of factors, some socioeconomic and some biologic.

Poorer access to care, or lower-quality care?

A study of US servicemen who had equal access to care showed that African American men had a higher rate of prostate cancer regardless of access to care and socioeconomic status.⁴

However, the 2002 Institute of Medicine report, Unequal Treatment: Confronting Racial and Ethnic Disparities in Health Care, found evidence that racial and ethnic minorities tend to receive lower-quality health care than whites, “even when access-related factors, such as patients’ insurance status and income, are controlled.”⁵

Genetic predisposition?

Some have proposed that the disparity may be a function of genetic predisposition.

Evidence of a genetic component to the high incidence and mortality rate in African American men comes from epidemiologic studies of men with similar genetic backgrounds. For example, men in Nigeria and Ghana also have a high incidence of prostate cancer, as do men of African descent in the Caribbean islands and in the United Kingdom.⁶

Chromosome 8q24 variants have been shown in several studies to be associated with prostate cancer risk and are more common in African American men.^7–10 Some studies have also shown a higher rate of variations in cell apoptosis genes such as BCL2¹¹ and tumor-suppression genes such as EphB2 in African American men.¹²

These findings suggest that genetic differences may contribute to the higher prostate cancer incidence and mortality rate seen in African American men.

More-aggressive cancer, or later detection?

Not only do African American men tend to have a higher incidence of prostate cancer, they also tend to have more-aggressive disease (ie, a higher pathologic grade) at the time of diagnosis, which may contribute to the disparity in mortality rates.^13–19

Initially, there was some controversy as to whether this observation is a result of genetic and biologic factors that may predispose African American men to more-aggressive disease, or if it is due to inadequate screening and delayed presentation. However, a body of evidence supports the contention that prostate cancer is more aggressive in African American men.

For example, a study of autopsy data from men who died of prostate cancer at ages 20 to 49 showed that the age of onset of prostate cancer was similar between African American and white men.²⁰ The Surveillance Epidemiology and End Results (SEER) database showed that African American men had a higher incidence of metastatic disease across all age groups.²⁰ A similar study conducted 10 years later confirmed that rates of subclinical prostate cancer in African American and white men do not differ by race at the early ages, but that advanced or metastatic disease occurred nearly four times as frequently in African American men.²¹

Another study examined prostate biopsies from African American men and found that their tumors expressed higher levels of biomarkers, suggesting they had more-aggressive disease.²²

SCREENING FOR PROSTATE CANCER

Serum prostate-specific antigen (PSA) testing has become the method of choice for prostate cancer screening. However, PSA screening in asymptomatic men is under debate, because it can lead to overdetection and subsequent overtreatment of indolent disease.²³

Several recent studies showed differing results from prostate cancer screening.

The US Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial found that the mortality rate was no lower with combined PSA screening and digital rectal examination during a median follow-up of 11 years than in a control group that had a lower rate of screening.²⁴ However, further analysis of these data, with stratifying by comorbidities, showed that PSA screening in young and healthy men reduces the risk of death from prostate cancer, with minimal overtreatment.²⁵

The European Randomized Study of Screening for Prostate Cancer found a statistically significant 20% reduction in deaths from prostate cancer with PSA screening, but that it was necessary to treat 48 men in order to save one life.²⁶

Another study, published in 2010, showed that regular PSA screening reduced the rate of prostate cancer mortality by half over 14 years.²⁷

African American men generally present with disease that is more advanced than in white men.²⁸ This historically has been attributed to the fact that African Americans have been less likely to be screened for prostate cancer, though recent data indicate the gap is lessening.^29–31 A cross-sectional study from the Texas Medical Center showed that 54.4% of African American men had received PSA screening, compared with 63.2% of white men.³²

Another study showed that African Americans were more likely to have had a longer interval between PSA screenings before diagnosis, and that a longer PSA screening interval was associated with greater odds of having advanced disease at diagnosis.³³ However, when the researchers controlled for the PSA screening interval, they found that African Americans had the same odds of being diagnosed with advanced prostate cancer as white patients did. They concluded that more frequent or systematic PSA screening may reduce the racial differences in cancer stage at diagnosis and in deaths.

Many reasons have been proposed to explain why African Americans receive less screening, including poor communication between physicians and minority patients due to lack of cultural competency among physicians, lack of health insurance (and poor access to quality care as a result), and deficiency of knowledge about screening. Though awareness is rising, many African Americans are unaware of early detection methods for prostate cancer (eg, PSA testing), and other barriers such as cost and transportation exist that may prevent African American men from being screened.^34,35

As gatekeepers, primary care physicians are in a position to address these shortcomings in patient education and to enhance the physician-patient relationship.³⁶

Black men have higher PSA levels, with or without cancer

Physicians must also be aware of racial differences in PSA levels and realize that the predictive value of PSA in the diagnosis of prostate cancer may differ between African Americans and whites.

Black men, with or without prostate cancer, have been found to have higher PSA levels. Kyle and colleagues³⁷ found that African American men without prostate cancer had significantly higher mean PSA levels than white men across all age groups. Furthermore, Vijayakumar et al³⁸ found that African Americans with newly diagnosed localized prostate cancer had higher serum PSA levels than whites at diagnosis.

Although PSA cutoff levels have not been officially modified according to race, primary care physicians should have a lower threshold for referring African American men who have a suspiciously high PSA level for further urologic evaluation. Close partnership between the internist, family practitioner, and urologist will aid in the optimal use of PSA testing for the early detection of prostate cancer.

When to start PSA screening? How often to screen?

The age at which African American men should begin to have their PSA levels checked (with or without a digital rectal examination) continues to debated. However, the American Cancer Society³⁹ recommends that African American men who have a father or brother who had prostate cancer before age 65 should begin having discussions with their physician on this topic and, with their informed consent, screening at age 45.

The frequency of PSA screening depends on the individual’s PSA level. The National Comprehensive Cancer Network⁴⁰ recommends that men at high risk be offered a baseline PSA measurement and digital rectal examination at age 40 and, if the PSA level is higher than 1 ng/mL, that they be offered annual follow-ups. If the PSA level is less than 1 ng/mL, they recommend screening again at age 45. Risk factors for prostate cancer include family history as well as African American race.⁴¹

How should PSA levels be interpreted?

Interpreting PSA results is important in detecting prostate cancer at early stages.

At first, we believed the normal range of PSA for all men was 4.0 ng/mL or less. However, the American Urological Association now recognizes that the normal PSA range, in addition to varying along racial lines, also is age-dependent.⁴² The Cleveland Clinic Minority Men's Health Center's suggested normal ranges of PSA in African American men are:

• Age 40–49: ≤ 2.5 ng/mL
• Age 50–59: ≤ 3.0 ng/mL
• Age 60–69: ≤ 3.5 ng/mL
• Age 70–79: ≤ 4.5 ng/mL
• Age > 80: ≤ 5.0 ng/mL.

Remember that an elevated PSA does not necessarily signify prostate cancer, and that these are reference ranges only and may vary in individual men.

SURVIVAL AFTER DIAGNOSIS

African American men with prostate cancer have significantly higher mortality rates than white men. The possible causes of worse outcomes are many, and there have been many studies that attempted to address this disparity. The question of a more biologically aggressive cancer was previously discussed, but additional factors such as socioeconomic factors, comorbidities, and treatment received have also been studied, and data are mixed.^43–45

In a large SEER database review, once confounding variables of socioeconomic status, cancer stage, and treatment received were eliminated, African Americans had similar stage-for-stage survival from prostate cancer.⁴⁶ Another study found, in 2,046 men, that differences in socioeconomic status explained the difference in mortality rates between white and black patients.⁴⁷

However, other studies that adjusted for socioeconomic status as well as patient and tumor characteristics found that African American and Hispanic men were more likely to die of prostate cancer than white men.⁴⁸

Do African American men receive less-aggressive care?

Studies have also determined that there may be differences in treatments offered to patients, which in turn negatively affect survival.^28,49–53 Potentially curative local therapies (including radical surgery or radiation) may be recommended less often to black men because of major comorbidities or socioeconomic considerations.^49–52

Additionally, potential metastatic disease may be identified in a less timely and accurate manner, as African American men are less likely to undergo pelvic lymph node dissection. This was associated with worse survival in men with poorly differentiated prostate cancer.⁵³

However, returning to the possibility that prostate cancer is biologically more aggressive in African American men, some studies have shown that even after adjusting for treatment, African Americans continue to have worse survival rates.^54,55 One study in men with stage T1 to T3 prostate cancer who chose brachytherapy for treatment reported that after adjusting for PSA, clinical stage, socioeconomic status, and comorbidities, African American and Hispanic race were associated with higher all-cause mortality rates.⁵⁵

Equal care, equal outcomes?

In total, these results suggest that factors unrelated to tumor biology may be additional reasons for the poorer survival rates in African American men with prostate cancer. More favorable survival outcomes for African Americans with localized disease may be achieved with uniform assignment of treatment.

Fowler and Terrell⁵⁶ reviewed the outcomes of 148 black and 209 white men with localized prostate cancer treated with surgery or radiation therapy over an 11-year period at a Veterans Administration hospital. Not surprisingly, the black men presented more often with advanced disease. However, survival outcomes were equivalent between whites and blacks when treatment was assigned in a uniform manner without regard to race. After a median follow-up of 96 months, there were no significant differences in all-cause, cause-specific, metastasis-free, clinical disease-free, or PSA recurrence-free survival rates in 109 black and 167 white men with low-stage cancer treated with surgery or radiation therapy or in 39 black and 42 white men with high-stage disease treated with radiotherapy.⁵⁶

Similarly, Tewari et al⁵⁷ studied a cohort of 402 African American and 642 white men, all of whom underwent radical prostatectomy for clinically localized prostate cancer. They were followed for PSA recurrence to determine if race-specific differences in PSA doubling time or histopathologic variables might account for the higher mortality rate in black men. While there were race-specific differences in baseline serum PSA and incidence of high-grade prostatic intraepithelial neoplasia, race was not an independent risk factor for biochemical recurrence. Instead, other variables such as the Gleason pathology score, bilateral cancers, and margin positivity were independently associated with biochemical recurrence.

Furthermore, researchers at Louisiana State University⁵⁸ retrospectively analyzed data from 205 men of different races with early-stage prostate cancer. The African American men had a higher serum PSA level, suggesting more advanced disease or greater tumor burden at presentation, but no statistically significant differences were found among the pretreatment biopsy variables, including prostate volume (measured by ultrasonography), Gleason score, millimeters of cancer within the biopsy specimen, and percentage of cancer within the biopsy specimen. After treatment, there were no significant differences in survival outcomes along racial lines, leading the authors to conclude that early detection and treatment of prostate cancer in African Americans would be the best approach to lowering mortality rates.

Taken together, these data suggest that if localized prostate cancer is treated adequately and appropriately, African American patients may have improved survival rates.

DIETARY AND LIFESTYLE FACTORS

The incidence of prostate cancer is increasing in other countries where Western diets and lifestyles have been adopted,^59,60 suggesting that nutritional factors may also contribute partly to prostate carcinogenesis. Culture- and race-specific differences in diet may play an important role in prostate cancer risk in certain racial minorities. Many aspects of diet and nutrition have been studied for their impact on prostate cancer.

Dietary risk factors

Too much red meat and processed meat? Although some have suggested that diets high in red and processed meats may lead to a higher risk of prostate cancer, a meta-analysis showed no association.^61,62

Too much calcium? The European Prospective Investigation Into Cancer and Nutrition study found that high dietary intake of dairy protein and calcium from dairy products was associated with a higher risk of prostate cancer.⁶³ A cohort study in the United States had similar findings with regard to calcium.⁶⁴ However, the higher risk of prostate cancer was associated with consumption of 2,000 mg or more of calcium per day, which was consumed by only 2% of the study’s cohort and, as the study’s authors reported, fewer than 1% of US men. As such, only a small population of American men seem to be exposing themselves to a higher risk of prostate cancer by high calcium consumption.

High fat intake? Certain fatty acids have been implicated in general tumor genesis, and that risk has been extrapolated to prostate cancer.⁶⁵ For example, high fat intake and obesity are associated with increased levels of insulin-like growth factor 1, which in turn has been shown to correlate with a significantly elevated risk of prostate cancer.^63,65

Obesity has been shown to increase the risk of more-aggressive prostate cancer, but not of less-aggressive tumors.⁶⁶ Moreover, men who lost weight had a lower risk of prostate cancer than those who maintained their weight over 10 years.⁶⁶ Obesity may be particularly risky for African American men, in whom it was found to be associated with shorter biochemical relapse-free survival, whereas it was not an independent risk factor in white men.⁶⁷

Preventive dietary agents have been elusive

Unfortunately, despite attempts to identify preventive dietary agents, none has yet been confirmed.

No benefit from selenium or vitamin E. The Selenium and Vitamin E Cancer Prevention Trial was discontinued, as there was no evidence that either agent prevented prostate cancer in relatively healthy men.⁶⁸

Vitamin D? It has been suggested that lower levels of vitamin D could contribute to the higher rates of prostate cancer in African Americans, as vitamin D deficiency is more common in African Americans.⁶⁹ However, several meta-analyses have shown no association between vitamin D and prostate cancer.^70–72

Soy? Attempts at correlating the relatively low incidence of prostate cancer in Asians have revealed that high soy intake may be protective. Asians consume more soy than Americans do (100 vs 3 mg/day), and soy isoflavones such as genistein, glycitein, and daidzein lower the incidence of prostate cancer in laboratory mice.⁷³

Other lifestyle factors

Other lifestyle factors have also been analyzed to see if they contribute to prostate cancer.

Pollution. Some studies have suggested that the etiology of prostate cancer may lie in environmental exposures to pesticides,⁷⁴ metal industrial facilities,⁷⁵ and urban living.⁷⁶

Smoking. Watters et al⁷⁷ found that current and former cigarette smokers were actually at a lower risk of being diagnosed with non-advanced prostate cancer, but current smokers were at higher risk of dying from prostate cancer.

Physical activity. A prospective study of lifetime physical activity of more than 45,000 men found that men who were not sedentary during work and who walked or bicycled more than 30 minutes per day during adult life had an approximately 20% lower incidence of prostate cancer.⁷⁸

In sum, primary care providers who are generally promoting healthy lifestyles can point to a reduction in risk for prostate cancer as yet another benefit to a low-fat diet, a healthy body mass index, and daily exercise.

HOW PRIMARY CARE PHYSICIANS CAN HELP CLOSE THE GAP

Primary care physicians serve as the first point of health access for many in the United States today.

The diagnosis of prostate cancer is made more frequently in African American men than in other American men, often at a higher pathological grade, and with a worse mortality rate. Primary care physicians can help improve these statistics. Interventions targeting overall health, such as promotion of a healthy diet, could be established at primary care visits and could also reduce the incidence of prostate cancer in African American men. Patient education regarding prostate cancer screening, the impact of family history, and the rate of PSA screening could be improved.

Primary care physicians serve a vital role in health education and prostate cancer screening, and therefore they begin the process in potentially reducing the impact of prostate cancer in African American men. The racial disparity seen in prostate cancer may begin to be minimized with primary care physicians and specialists working together to ensure that all men receive appropriate treatment.

Prostate cancer is the most common cancer affecting American men. In 2010, an estimated 217,730 men were diagnosed with it and 32,050 died of it.¹ African American men are disproportionately affected, with a prostate cancer incidence two-thirds higher than whites and a mortality rate twice as high.¹ Owing to such disparities, the life expectancy of African Americans is several years shorter than that of non-Hispanic whites.²

For the primary care provider, who is often the first access point for health care in the United States, it is important to understand what mechanisms may underlie these differences and what can be done to narrow the gap.³

WHAT IS THE CAUSE OF THESE DIFFERENCES?

Many studies have looked into the causes of the higher incidence of prostate cancer in African American men and their higher mortality rate from it. The disparity may be due to a variety of factors, some socioeconomic and some biologic.

Poorer access to care, or lower-quality care?

A study of US servicemen who had equal access to care showed that African American men had a higher rate of prostate cancer regardless of access to care and socioeconomic status.⁴

However, the 2002 Institute of Medicine report, Unequal Treatment: Confronting Racial and Ethnic Disparities in Health Care, found evidence that racial and ethnic minorities tend to receive lower-quality health care than whites, “even when access-related factors, such as patients’ insurance status and income, are controlled.”⁵

Genetic predisposition?

Some have proposed that the disparity may be a function of genetic predisposition.

Evidence of a genetic component to the high incidence and mortality rate in African American men comes from epidemiologic studies of men with similar genetic backgrounds. For example, men in Nigeria and Ghana also have a high incidence of prostate cancer, as do men of African descent in the Caribbean islands and in the United Kingdom.⁶

Chromosome 8q24 variants have been shown in several studies to be associated with prostate cancer risk and are more common in African American men.^7–10 Some studies have also shown a higher rate of variations in cell apoptosis genes such as BCL2¹¹ and tumor-suppression genes such as EphB2 in African American men.¹²

These findings suggest that genetic differences may contribute to the higher prostate cancer incidence and mortality rate seen in African American men.

More-aggressive cancer, or later detection?

Not only do African American men tend to have a higher incidence of prostate cancer, they also tend to have more-aggressive disease (ie, a higher pathologic grade) at the time of diagnosis, which may contribute to the disparity in mortality rates.^13–19

Initially, there was some controversy as to whether this observation is a result of genetic and biologic factors that may predispose African American men to more-aggressive disease, or if it is due to inadequate screening and delayed presentation. However, a body of evidence supports the contention that prostate cancer is more aggressive in African American men.

For example, a study of autopsy data from men who died of prostate cancer at ages 20 to 49 showed that the age of onset of prostate cancer was similar between African American and white men.²⁰ The Surveillance Epidemiology and End Results (SEER) database showed that African American men had a higher incidence of metastatic disease across all age groups.²⁰ A similar study conducted 10 years later confirmed that rates of subclinical prostate cancer in African American and white men do not differ by race at the early ages, but that advanced or metastatic disease occurred nearly four times as frequently in African American men.²¹

Another study examined prostate biopsies from African American men and found that their tumors expressed higher levels of biomarkers, suggesting they had more-aggressive disease.²²

SCREENING FOR PROSTATE CANCER

Serum prostate-specific antigen (PSA) testing has become the method of choice for prostate cancer screening. However, PSA screening in asymptomatic men is under debate, because it can lead to overdetection and subsequent overtreatment of indolent disease.²³

Several recent studies showed differing results from prostate cancer screening.

The US Prostate, Lung, Colorectal, and Ovarian Cancer Screening Trial found that the mortality rate was no lower with combined PSA screening and digital rectal examination during a median follow-up of 11 years than in a control group that had a lower rate of screening.²⁴ However, further analysis of these data, with stratifying by comorbidities, showed that PSA screening in young and healthy men reduces the risk of death from prostate cancer, with minimal overtreatment.²⁵

The European Randomized Study of Screening for Prostate Cancer found a statistically significant 20% reduction in deaths from prostate cancer with PSA screening, but that it was necessary to treat 48 men in order to save one life.²⁶

Another study, published in 2010, showed that regular PSA screening reduced the rate of prostate cancer mortality by half over 14 years.²⁷

African American men generally present with disease that is more advanced than in white men.²⁸ This historically has been attributed to the fact that African Americans have been less likely to be screened for prostate cancer, though recent data indicate the gap is lessening.^29–31 A cross-sectional study from the Texas Medical Center showed that 54.4% of African American men had received PSA screening, compared with 63.2% of white men.³²

Another study showed that African Americans were more likely to have had a longer interval between PSA screenings before diagnosis, and that a longer PSA screening interval was associated with greater odds of having advanced disease at diagnosis.³³ However, when the researchers controlled for the PSA screening interval, they found that African Americans had the same odds of being diagnosed with advanced prostate cancer as white patients did. They concluded that more frequent or systematic PSA screening may reduce the racial differences in cancer stage at diagnosis and in deaths.

Many reasons have been proposed to explain why African Americans receive less screening, including poor communication between physicians and minority patients due to lack of cultural competency among physicians, lack of health insurance (and poor access to quality care as a result), and deficiency of knowledge about screening. Though awareness is rising, many African Americans are unaware of early detection methods for prostate cancer (eg, PSA testing), and other barriers such as cost and transportation exist that may prevent African American men from being screened.^34,35

As gatekeepers, primary care physicians are in a position to address these shortcomings in patient education and to enhance the physician-patient relationship.³⁶

Black men have higher PSA levels, with or without cancer

Physicians must also be aware of racial differences in PSA levels and realize that the predictive value of PSA in the diagnosis of prostate cancer may differ between African Americans and whites.

Black men, with or without prostate cancer, have been found to have higher PSA levels. Kyle and colleagues³⁷ found that African American men without prostate cancer had significantly higher mean PSA levels than white men across all age groups. Furthermore, Vijayakumar et al³⁸ found that African Americans with newly diagnosed localized prostate cancer had higher serum PSA levels than whites at diagnosis.

Although PSA cutoff levels have not been officially modified according to race, primary care physicians should have a lower threshold for referring African American men who have a suspiciously high PSA level for further urologic evaluation. Close partnership between the internist, family practitioner, and urologist will aid in the optimal use of PSA testing for the early detection of prostate cancer.

When to start PSA screening? How often to screen?

The age at which African American men should begin to have their PSA levels checked (with or without a digital rectal examination) continues to debated. However, the American Cancer Society³⁹ recommends that African American men who have a father or brother who had prostate cancer before age 65 should begin having discussions with their physician on this topic and, with their informed consent, screening at age 45.

The frequency of PSA screening depends on the individual’s PSA level. The National Comprehensive Cancer Network⁴⁰ recommends that men at high risk be offered a baseline PSA measurement and digital rectal examination at age 40 and, if the PSA level is higher than 1 ng/mL, that they be offered annual follow-ups. If the PSA level is less than 1 ng/mL, they recommend screening again at age 45. Risk factors for prostate cancer include family history as well as African American race.⁴¹

How should PSA levels be interpreted?

Interpreting PSA results is important in detecting prostate cancer at early stages.

At first, we believed the normal range of PSA for all men was 4.0 ng/mL or less. However, the American Urological Association now recognizes that the normal PSA range, in addition to varying along racial lines, also is age-dependent.⁴² The Cleveland Clinic Minority Men's Health Center's suggested normal ranges of PSA in African American men are:

• Age 40–49: ≤ 2.5 ng/mL
• Age 50–59: ≤ 3.0 ng/mL
• Age 60–69: ≤ 3.5 ng/mL
• Age 70–79: ≤ 4.5 ng/mL
• Age > 80: ≤ 5.0 ng/mL.

Remember that an elevated PSA does not necessarily signify prostate cancer, and that these are reference ranges only and may vary in individual men.

SURVIVAL AFTER DIAGNOSIS

African American men with prostate cancer have significantly higher mortality rates than white men. The possible causes of worse outcomes are many, and there have been many studies that attempted to address this disparity. The question of a more biologically aggressive cancer was previously discussed, but additional factors such as socioeconomic factors, comorbidities, and treatment received have also been studied, and data are mixed.^43–45

In a large SEER database review, once confounding variables of socioeconomic status, cancer stage, and treatment received were eliminated, African Americans had similar stage-for-stage survival from prostate cancer.⁴⁶ Another study found, in 2,046 men, that differences in socioeconomic status explained the difference in mortality rates between white and black patients.⁴⁷

However, other studies that adjusted for socioeconomic status as well as patient and tumor characteristics found that African American and Hispanic men were more likely to die of prostate cancer than white men.⁴⁸

Do African American men receive less-aggressive care?

Studies have also determined that there may be differences in treatments offered to patients, which in turn negatively affect survival.^28,49–53 Potentially curative local therapies (including radical surgery or radiation) may be recommended less often to black men because of major comorbidities or socioeconomic considerations.^49–52

Additionally, potential metastatic disease may be identified in a less timely and accurate manner, as African American men are less likely to undergo pelvic lymph node dissection. This was associated with worse survival in men with poorly differentiated prostate cancer.⁵³

However, returning to the possibility that prostate cancer is biologically more aggressive in African American men, some studies have shown that even after adjusting for treatment, African Americans continue to have worse survival rates.^54,55 One study in men with stage T1 to T3 prostate cancer who chose brachytherapy for treatment reported that after adjusting for PSA, clinical stage, socioeconomic status, and comorbidities, African American and Hispanic race were associated with higher all-cause mortality rates.⁵⁵

Equal care, equal outcomes?

In total, these results suggest that factors unrelated to tumor biology may be additional reasons for the poorer survival rates in African American men with prostate cancer. More favorable survival outcomes for African Americans with localized disease may be achieved with uniform assignment of treatment.

Fowler and Terrell⁵⁶ reviewed the outcomes of 148 black and 209 white men with localized prostate cancer treated with surgery or radiation therapy over an 11-year period at a Veterans Administration hospital. Not surprisingly, the black men presented more often with advanced disease. However, survival outcomes were equivalent between whites and blacks when treatment was assigned in a uniform manner without regard to race. After a median follow-up of 96 months, there were no significant differences in all-cause, cause-specific, metastasis-free, clinical disease-free, or PSA recurrence-free survival rates in 109 black and 167 white men with low-stage cancer treated with surgery or radiation therapy or in 39 black and 42 white men with high-stage disease treated with radiotherapy.⁵⁶

Similarly, Tewari et al⁵⁷ studied a cohort of 402 African American and 642 white men, all of whom underwent radical prostatectomy for clinically localized prostate cancer. They were followed for PSA recurrence to determine if race-specific differences in PSA doubling time or histopathologic variables might account for the higher mortality rate in black men. While there were race-specific differences in baseline serum PSA and incidence of high-grade prostatic intraepithelial neoplasia, race was not an independent risk factor for biochemical recurrence. Instead, other variables such as the Gleason pathology score, bilateral cancers, and margin positivity were independently associated with biochemical recurrence.

Furthermore, researchers at Louisiana State University⁵⁸ retrospectively analyzed data from 205 men of different races with early-stage prostate cancer. The African American men had a higher serum PSA level, suggesting more advanced disease or greater tumor burden at presentation, but no statistically significant differences were found among the pretreatment biopsy variables, including prostate volume (measured by ultrasonography), Gleason score, millimeters of cancer within the biopsy specimen, and percentage of cancer within the biopsy specimen. After treatment, there were no significant differences in survival outcomes along racial lines, leading the authors to conclude that early detection and treatment of prostate cancer in African Americans would be the best approach to lowering mortality rates.

Taken together, these data suggest that if localized prostate cancer is treated adequately and appropriately, African American patients may have improved survival rates.

DIETARY AND LIFESTYLE FACTORS

The incidence of prostate cancer is increasing in other countries where Western diets and lifestyles have been adopted,^59,60 suggesting that nutritional factors may also contribute partly to prostate carcinogenesis. Culture- and race-specific differences in diet may play an important role in prostate cancer risk in certain racial minorities. Many aspects of diet and nutrition have been studied for their impact on prostate cancer.

Dietary risk factors

Too much red meat and processed meat? Although some have suggested that diets high in red and processed meats may lead to a higher risk of prostate cancer, a meta-analysis showed no association.^61,62

Too much calcium? The European Prospective Investigation Into Cancer and Nutrition study found that high dietary intake of dairy protein and calcium from dairy products was associated with a higher risk of prostate cancer.⁶³ A cohort study in the United States had similar findings with regard to calcium.⁶⁴ However, the higher risk of prostate cancer was associated with consumption of 2,000 mg or more of calcium per day, which was consumed by only 2% of the study’s cohort and, as the study’s authors reported, fewer than 1% of US men. As such, only a small population of American men seem to be exposing themselves to a higher risk of prostate cancer by high calcium consumption.

High fat intake? Certain fatty acids have been implicated in general tumor genesis, and that risk has been extrapolated to prostate cancer.⁶⁵ For example, high fat intake and obesity are associated with increased levels of insulin-like growth factor 1, which in turn has been shown to correlate with a significantly elevated risk of prostate cancer.^63,65

Obesity has been shown to increase the risk of more-aggressive prostate cancer, but not of less-aggressive tumors.⁶⁶ Moreover, men who lost weight had a lower risk of prostate cancer than those who maintained their weight over 10 years.⁶⁶ Obesity may be particularly risky for African American men, in whom it was found to be associated with shorter biochemical relapse-free survival, whereas it was not an independent risk factor in white men.⁶⁷

Preventive dietary agents have been elusive

Unfortunately, despite attempts to identify preventive dietary agents, none has yet been confirmed.

No benefit from selenium or vitamin E. The Selenium and Vitamin E Cancer Prevention Trial was discontinued, as there was no evidence that either agent prevented prostate cancer in relatively healthy men.⁶⁸

Vitamin D? It has been suggested that lower levels of vitamin D could contribute to the higher rates of prostate cancer in African Americans, as vitamin D deficiency is more common in African Americans.⁶⁹ However, several meta-analyses have shown no association between vitamin D and prostate cancer.^70–72

Soy? Attempts at correlating the relatively low incidence of prostate cancer in Asians have revealed that high soy intake may be protective. Asians consume more soy than Americans do (100 vs 3 mg/day), and soy isoflavones such as genistein, glycitein, and daidzein lower the incidence of prostate cancer in laboratory mice.⁷³

Other lifestyle factors

Other lifestyle factors have also been analyzed to see if they contribute to prostate cancer.

Pollution. Some studies have suggested that the etiology of prostate cancer may lie in environmental exposures to pesticides,⁷⁴ metal industrial facilities,⁷⁵ and urban living.⁷⁶

Smoking. Watters et al⁷⁷ found that current and former cigarette smokers were actually at a lower risk of being diagnosed with non-advanced prostate cancer, but current smokers were at higher risk of dying from prostate cancer.

Physical activity. A prospective study of lifetime physical activity of more than 45,000 men found that men who were not sedentary during work and who walked or bicycled more than 30 minutes per day during adult life had an approximately 20% lower incidence of prostate cancer.⁷⁸

In sum, primary care providers who are generally promoting healthy lifestyles can point to a reduction in risk for prostate cancer as yet another benefit to a low-fat diet, a healthy body mass index, and daily exercise.

HOW PRIMARY CARE PHYSICIANS CAN HELP CLOSE THE GAP

Primary care physicians serve as the first point of health access for many in the United States today.

The diagnosis of prostate cancer is made more frequently in African American men than in other American men, often at a higher pathological grade, and with a worse mortality rate. Primary care physicians can help improve these statistics. Interventions targeting overall health, such as promotion of a healthy diet, could be established at primary care visits and could also reduce the incidence of prostate cancer in African American men. Patient education regarding prostate cancer screening, the impact of family history, and the rate of PSA screening could be improved.

Primary care physicians serve a vital role in health education and prostate cancer screening, and therefore they begin the process in potentially reducing the impact of prostate cancer in African American men. The racial disparity seen in prostate cancer may begin to be minimized with primary care physicians and specialists working together to ensure that all men receive appropriate treatment.