CHICAGO – Two laboratory measurements that are commonly used to assess the cause of symptomatic ascites before liver transplant may be deceptive when used to assess posttransplant ascites, a retrospective study of 15 patients suggested.

Before liver transplant, a serum-ascites albumin gradient (SAAG) greater than 1.1 g/dL differentiates ascites due to portal hypertension rather than other causes 97% of the time. An ascites total protein (aTP) measurement has a lower accuracy for portal hypertension of 57%, but when used in conjunction with SAAG, an aTP of 2.5 g/dL or greater suggests that the cause is cardiac ascites, tuberculous ascites, or peritoneal carcinomatosis, Dr. Jeffrey LaFond explained at the annual Digestive Disease Week.

He and his associates studied the records of 15 patients who developed symptomatic post-transplant ascites that had enough volume to require therapeutic paracentesis. The ascites occurred a mean of 515 days after transplantation (ranging from 14 to 2,744 days). In the work-up for ascites, the sensitivity of SAAG for portal hypertension was 82% and the sensitivity of aTP for portal hypertension was 50%.

Three of 12 patients who had a posttransplant SAAG had a gradient below 1.1 g/dL even though other tests found no evidence of another cause for ascites besides portal hypertension, and two of those three patients had confirmed portal hypertension, he reported. Five of 10 patients with an aTP had a value greater than 2.5 g/dL, even though they had confirmed portal hypertension and normal cardiac function, he reported.

"Assessment of ascites due to portal hypertension and/or vascular stricture in the posttransplant period using SAAG and aTP can be deceiving and cannot be relied upon to make diagnostic interventional decisions," said Dr. LaFond of the University of Virginia, Charlottesville. "A hepatic venogram should be performed early on in patients with posttransplant ascites to evaluate for strictures and portal hypertension.

Records showed that all patients in the study had ascites confirmed by imaging and/or paracenteses and had diagnostic studies to rule out heart failure, opportunistic infection, or malignancy as the source of ascites. Suspected portal hypertension was confirmed by pressure measurements or the presence of vascular strictures on venogram, with portal hypertension defined as a sinusoidal or portosystemic gradient greater than 5 or the presence of a stricture with a gradient of at least 3.

An estimated 3%-7% of patients develop ascites after liver transplant, which has been associated with an increased risk of renal impairment, prolonged hospitalization, and abdominal infections, he said.

Dr. LaFond reported having no financial disclosures.

[email protected]

On Twitter @sherryboschert

*This story was updated 6/3/2014.

CHICAGO – Two laboratory measurements that are commonly used to assess the cause of symptomatic ascites before liver transplant may be deceptive when used to assess posttransplant ascites, a retrospective study of 15 patients suggested.

Before liver transplant, a serum-ascites albumin gradient (SAAG) greater than 1.1 g/dL differentiates ascites due to portal hypertension rather than other causes 97% of the time. An ascites total protein (aTP) measurement has a lower accuracy for portal hypertension of 57%, but when used in conjunction with SAAG, an aTP of 2.5 g/dL or greater suggests that the cause is cardiac ascites, tuberculous ascites, or peritoneal carcinomatosis, Dr. Jeffrey LaFond explained at the annual Digestive Disease Week.

He and his associates studied the records of 15 patients who developed symptomatic post-transplant ascites that had enough volume to require therapeutic paracentesis. The ascites occurred a mean of 515 days after transplantation (ranging from 14 to 2,744 days). In the work-up for ascites, the sensitivity of SAAG for portal hypertension was 82% and the sensitivity of aTP for portal hypertension was 50%.

Three of 12 patients who had a posttransplant SAAG had a gradient below 1.1 g/dL even though other tests found no evidence of another cause for ascites besides portal hypertension, and two of those three patients had confirmed portal hypertension, he reported. Five of 10 patients with an aTP had a value greater than 2.5 g/dL, even though they had confirmed portal hypertension and normal cardiac function, he reported.

"Assessment of ascites due to portal hypertension and/or vascular stricture in the posttransplant period using SAAG and aTP can be deceiving and cannot be relied upon to make diagnostic interventional decisions," said Dr. LaFond of the University of Virginia, Charlottesville. "A hepatic venogram should be performed early on in patients with posttransplant ascites to evaluate for strictures and portal hypertension.

Records showed that all patients in the study had ascites confirmed by imaging and/or paracenteses and had diagnostic studies to rule out heart failure, opportunistic infection, or malignancy as the source of ascites. Suspected portal hypertension was confirmed by pressure measurements or the presence of vascular strictures on venogram, with portal hypertension defined as a sinusoidal or portosystemic gradient greater than 5 or the presence of a stricture with a gradient of at least 3.

An estimated 3%-7% of patients develop ascites after liver transplant, which has been associated with an increased risk of renal impairment, prolonged hospitalization, and abdominal infections, he said.

Dr. LaFond reported having no financial disclosures.

[email protected]

On Twitter @sherryboschert

*This story was updated 6/3/2014.

CHICAGO – Two laboratory measurements that are commonly used to assess the cause of symptomatic ascites before liver transplant may be deceptive when used to assess posttransplant ascites, a retrospective study of 15 patients suggested.

Before liver transplant, a serum-ascites albumin gradient (SAAG) greater than 1.1 g/dL differentiates ascites due to portal hypertension rather than other causes 97% of the time. An ascites total protein (aTP) measurement has a lower accuracy for portal hypertension of 57%, but when used in conjunction with SAAG, an aTP of 2.5 g/dL or greater suggests that the cause is cardiac ascites, tuberculous ascites, or peritoneal carcinomatosis, Dr. Jeffrey LaFond explained at the annual Digestive Disease Week.

He and his associates studied the records of 15 patients who developed symptomatic post-transplant ascites that had enough volume to require therapeutic paracentesis. The ascites occurred a mean of 515 days after transplantation (ranging from 14 to 2,744 days). In the work-up for ascites, the sensitivity of SAAG for portal hypertension was 82% and the sensitivity of aTP for portal hypertension was 50%.

Three of 12 patients who had a posttransplant SAAG had a gradient below 1.1 g/dL even though other tests found no evidence of another cause for ascites besides portal hypertension, and two of those three patients had confirmed portal hypertension, he reported. Five of 10 patients with an aTP had a value greater than 2.5 g/dL, even though they had confirmed portal hypertension and normal cardiac function, he reported.

"Assessment of ascites due to portal hypertension and/or vascular stricture in the posttransplant period using SAAG and aTP can be deceiving and cannot be relied upon to make diagnostic interventional decisions," said Dr. LaFond of the University of Virginia, Charlottesville. "A hepatic venogram should be performed early on in patients with posttransplant ascites to evaluate for strictures and portal hypertension.

Records showed that all patients in the study had ascites confirmed by imaging and/or paracenteses and had diagnostic studies to rule out heart failure, opportunistic infection, or malignancy as the source of ascites. Suspected portal hypertension was confirmed by pressure measurements or the presence of vascular strictures on venogram, with portal hypertension defined as a sinusoidal or portosystemic gradient greater than 5 or the presence of a stricture with a gradient of at least 3.

An estimated 3%-7% of patients develop ascites after liver transplant, which has been associated with an increased risk of renal impairment, prolonged hospitalization, and abdominal infections, he said.

Dr. LaFond reported having no financial disclosures.

[email protected]

On Twitter @sherryboschert

*This story was updated 6/3/2014.

Naomi is a 61-year-old woman who has lived with bipolar disorder and its stigma for 30 years. After a major manic episode and hospitalization, she entered into family treatment at the urging of her three daughters. Previously, her husband had been the primary force in guiding her psychiatric care, and she had been in treatment with a psychiatrist who is his professional colleague.

The patient’s first depressive episode began in the postpartum period, but she did not seek help at that time because she thought that her feelings were normal for a new mother. She did not receive any psychiatric attention until she cycled into mania and called the police for fear her child was being poisoned by neighbors. Her most recent manic episode occurred after she stopped her medications because of concerns about side effects. She was too embarrassed to tell her husband or doctor. She routinely fails to tell her other medical doctors that she is on mood stabilizers, because she does not want them to know she has bipolar disorder.

As Naomi recovers from the most recent manic episode and settles into family treatment, she is struggling with the consequences of her actions to her family. In family therapy in the past, her husband has revealed his belief that he has been protecting the family from Naomi’s mania and protecting Naomi from "embarrassing herself." This is difficult for Naomi to hear as she has always prided herself on being a good mother and protecting her daughters. Naomi’s situation illustrates the difficulty of coping with a diagnosis of bipolar disorder, the consequences of the illness on the family, and the importance of addressing stigma.

How stigma gets in the way

As discussed previously by Dr. Alison M. Heru ("Mental illness stigma is a family affair," Clinical Psychiatry News, April 2014, p. 8), stigma, when internalized or self-directed, can lead to psychological distress, decreased self-esteem and life satisfaction, and increased depression and suicidality (Compr. Psychiatry 2010;51:603-6). Close family members of those with mental disorders are affected by stigma, commonly referred to as "stigma by association" or "courtesy stigma."

Up to 92% of caregivers of people with psychiatric disorders have reported internalized stigma (J. Psychiatr. Ment. Health Nurs. 2012;19:665-71). These family members become distant and avoidant, resulting in a reduced quality of life and an impaired ability to provide critical support for their loved ones. Caregiver anxiety is inversely related to patient anxiety, stigma, and poor alliance (J. Nerv. Ment. Disease 2011;199:18-24).

As a result of these factors, while people with psychiatric disorders have to cope with their own mental illness as well as the public and self-stigma that alienate them from society, they also are at risk of losing their family connections.

In order to confront stigma, the Family Center for Bipolar Disorder in New York City, for example, uses a Family Inclusive Treatment (FIT) model. The FIT model includes an engagement period at the initiation of treatment that is focused on psychoeducation and relapse prevention planning. FIT is unique in that every patient is required to sign a release of information giving permission for full, open communication at all times between the patient’s clinician and a treatment partner of their choice. After the initial engagement period, there are quarterly family visits to supplement regular individual treatment sessions. FIT treatment promotes open communication about symptoms and medications. FIT strives to minimize patient isolation from families; they can talk openly with one another and their clinician.

After seeing many families enter treatment, FIT staff noticed the prominence of stigma.

We have begun to ask about stigma directly. Do people with more stigma do worse in treatment? Do they adhere more poorly to treatment? Do their families tend to become less involved over time? To begin, Dr. Mednick and staff examined demographic data looking for factors that might predispose a person to experience increased stigma.

In terms of diagnosis, people with more internalizing disorders such as depression and anxiety disorders tend to experience more stigma. Distress is experienced internally. As Dr. Bassirnia and her colleagues wrote in a poster presented at the recent American Psychiatric Association meeting, people with externalizing disorders, such as substance abuse and antisocial disorders, are more likely to express their distress outwardly and are less likely to suffer from stigma ("The relationship between personality traits and perceived internalized stigma in bipolar patients and their caregivers," 2014).

Meanwhile, two systematic review studies have reported moderate to high levels of internalized stigma in people with bipolar disorder. In these studies, a higher level of internalized stigma had a negative correlation with self-esteem, social adjustment, and perceived social support, and positive correlation with severity of symptoms, functional impairment, and rehospitalization. In spite of having more severe symptoms; people with higher levels of self-stigma are less likely to seek professional help and adhere to their treatment. Stigma by association and its negative consequences in caregivers of people with mental disorders also have been reported (J. Affect. Disord. 2013;150:181-91).

 

A useful and easy to administer scale that helps to identify stigma is the "Perceived Criticism Scale" (J. Abnorm. Psychol. 1989;98:225-35). By asking four questions, the clinician can get a good sense of family dynamics and can monitor the progress and change over time. The questions rate perception on a scale of 1-10, where "X" is the other person involved in treatment, either patient or caregiver. Here are the questions:

1. How critical do you think you are of X?

2. How critical do you think X is of you?

3. When X criticizes you, how upset do you get?

4. When you criticize X, how upset does he/she get?

For families with high scores, follow-up is needed. The Internalized Stigma of Mental Illness (ISMI) scale (Psychiatry Res. 2003;121:31-49) can be used. The ISMI scale makes statements about stigma for which participants rate their agreement on a Likert scale, such as:

• I don’t talk about myself much because I don’t want to burden others with my mental illness.

• Being around people who don’t have a mental illness makes me feel out of place or inadequate.

• People can tell that I have a mental illness by the way I look.

• Mentally ill people tend to be violent.

• I feel out of place in the world because I have a mental illness.

The ISMI scale contains 29 short, simple statements like the ones above and can be completed in less than 10 minutes. The statements are designed to avoid hypothetical situations, stay focused in the present, and address the participant’s own identity and experience.

Using the tools in practice

Naomi entered family treatment with her husband and daughters. Using the ISMI to measure the stigma of mental illness that each family member was experiencing, Naomi was shocked to see that her daughters felt far less stigma about having a mother with mental illness than she had assumed. In turn, her daughters were shocked at how much stigma Naomi was experiencing. Naomi’s husband scored between them. This data paved the way for an open family conversation about how Naomi’s illness had affected their lives, and especially how Naomi’s husband and his perceptions of her illness had affected her treatment course.

Caregivers play a very important role in bipolar disorder. After all, the illness can lead to difficulty functioning and can threaten the family’s stability. Sometimes caregivers can serve as a source of strength and a beacon of stability in the occasional storm. It is hard for the family between the storms, when the same flashing beacon can be a constant reminder to the patient of their illness. Often, well intentioned concerns become constant checking up, making the patient feel stigmatized and expected to fail.

"Good" caregivers will be aware of the stigma and the impact it has on their loved one and on themselves, without becoming a source of stigma.

Dr. Mednick is an attending psychiatrist at the Family Center for Bipolar at Mount Sinai Beth Israel in New York City. Dr. Bassirnia is a second-year psychiatry resident at Mount Sinai Beth Israel. Scan the QR code to read more Families in Psychiatry columns at clinicalpsychiatrynews.com.

Naomi is a 61-year-old woman who has lived with bipolar disorder and its stigma for 30 years. After a major manic episode and hospitalization, she entered into family treatment at the urging of her three daughters. Previously, her husband had been the primary force in guiding her psychiatric care, and she had been in treatment with a psychiatrist who is his professional colleague.

The patient’s first depressive episode began in the postpartum period, but she did not seek help at that time because she thought that her feelings were normal for a new mother. She did not receive any psychiatric attention until she cycled into mania and called the police for fear her child was being poisoned by neighbors. Her most recent manic episode occurred after she stopped her medications because of concerns about side effects. She was too embarrassed to tell her husband or doctor. She routinely fails to tell her other medical doctors that she is on mood stabilizers, because she does not want them to know she has bipolar disorder.

As Naomi recovers from the most recent manic episode and settles into family treatment, she is struggling with the consequences of her actions to her family. In family therapy in the past, her husband has revealed his belief that he has been protecting the family from Naomi’s mania and protecting Naomi from "embarrassing herself." This is difficult for Naomi to hear as she has always prided herself on being a good mother and protecting her daughters. Naomi’s situation illustrates the difficulty of coping with a diagnosis of bipolar disorder, the consequences of the illness on the family, and the importance of addressing stigma.

How stigma gets in the way

As discussed previously by Dr. Alison M. Heru ("Mental illness stigma is a family affair," Clinical Psychiatry News, April 2014, p. 8), stigma, when internalized or self-directed, can lead to psychological distress, decreased self-esteem and life satisfaction, and increased depression and suicidality (Compr. Psychiatry 2010;51:603-6). Close family members of those with mental disorders are affected by stigma, commonly referred to as "stigma by association" or "courtesy stigma."

Up to 92% of caregivers of people with psychiatric disorders have reported internalized stigma (J. Psychiatr. Ment. Health Nurs. 2012;19:665-71). These family members become distant and avoidant, resulting in a reduced quality of life and an impaired ability to provide critical support for their loved ones. Caregiver anxiety is inversely related to patient anxiety, stigma, and poor alliance (J. Nerv. Ment. Disease 2011;199:18-24).

As a result of these factors, while people with psychiatric disorders have to cope with their own mental illness as well as the public and self-stigma that alienate them from society, they also are at risk of losing their family connections.

In order to confront stigma, the Family Center for Bipolar Disorder in New York City, for example, uses a Family Inclusive Treatment (FIT) model. The FIT model includes an engagement period at the initiation of treatment that is focused on psychoeducation and relapse prevention planning. FIT is unique in that every patient is required to sign a release of information giving permission for full, open communication at all times between the patient’s clinician and a treatment partner of their choice. After the initial engagement period, there are quarterly family visits to supplement regular individual treatment sessions. FIT treatment promotes open communication about symptoms and medications. FIT strives to minimize patient isolation from families; they can talk openly with one another and their clinician.

After seeing many families enter treatment, FIT staff noticed the prominence of stigma.

We have begun to ask about stigma directly. Do people with more stigma do worse in treatment? Do they adhere more poorly to treatment? Do their families tend to become less involved over time? To begin, Dr. Mednick and staff examined demographic data looking for factors that might predispose a person to experience increased stigma.

In terms of diagnosis, people with more internalizing disorders such as depression and anxiety disorders tend to experience more stigma. Distress is experienced internally. As Dr. Bassirnia and her colleagues wrote in a poster presented at the recent American Psychiatric Association meeting, people with externalizing disorders, such as substance abuse and antisocial disorders, are more likely to express their distress outwardly and are less likely to suffer from stigma ("The relationship between personality traits and perceived internalized stigma in bipolar patients and their caregivers," 2014).

Meanwhile, two systematic review studies have reported moderate to high levels of internalized stigma in people with bipolar disorder. In these studies, a higher level of internalized stigma had a negative correlation with self-esteem, social adjustment, and perceived social support, and positive correlation with severity of symptoms, functional impairment, and rehospitalization. In spite of having more severe symptoms; people with higher levels of self-stigma are less likely to seek professional help and adhere to their treatment. Stigma by association and its negative consequences in caregivers of people with mental disorders also have been reported (J. Affect. Disord. 2013;150:181-91).

 

A useful and easy to administer scale that helps to identify stigma is the "Perceived Criticism Scale" (J. Abnorm. Psychol. 1989;98:225-35). By asking four questions, the clinician can get a good sense of family dynamics and can monitor the progress and change over time. The questions rate perception on a scale of 1-10, where "X" is the other person involved in treatment, either patient or caregiver. Here are the questions:

1. How critical do you think you are of X?

2. How critical do you think X is of you?

3. When X criticizes you, how upset do you get?

4. When you criticize X, how upset does he/she get?

For families with high scores, follow-up is needed. The Internalized Stigma of Mental Illness (ISMI) scale (Psychiatry Res. 2003;121:31-49) can be used. The ISMI scale makes statements about stigma for which participants rate their agreement on a Likert scale, such as:

• I don’t talk about myself much because I don’t want to burden others with my mental illness.

• Being around people who don’t have a mental illness makes me feel out of place or inadequate.

• People can tell that I have a mental illness by the way I look.

• Mentally ill people tend to be violent.

• I feel out of place in the world because I have a mental illness.

The ISMI scale contains 29 short, simple statements like the ones above and can be completed in less than 10 minutes. The statements are designed to avoid hypothetical situations, stay focused in the present, and address the participant’s own identity and experience.

Using the tools in practice

Naomi entered family treatment with her husband and daughters. Using the ISMI to measure the stigma of mental illness that each family member was experiencing, Naomi was shocked to see that her daughters felt far less stigma about having a mother with mental illness than she had assumed. In turn, her daughters were shocked at how much stigma Naomi was experiencing. Naomi’s husband scored between them. This data paved the way for an open family conversation about how Naomi’s illness had affected their lives, and especially how Naomi’s husband and his perceptions of her illness had affected her treatment course.

Caregivers play a very important role in bipolar disorder. After all, the illness can lead to difficulty functioning and can threaten the family’s stability. Sometimes caregivers can serve as a source of strength and a beacon of stability in the occasional storm. It is hard for the family between the storms, when the same flashing beacon can be a constant reminder to the patient of their illness. Often, well intentioned concerns become constant checking up, making the patient feel stigmatized and expected to fail.

"Good" caregivers will be aware of the stigma and the impact it has on their loved one and on themselves, without becoming a source of stigma.

Dr. Mednick is an attending psychiatrist at the Family Center for Bipolar at Mount Sinai Beth Israel in New York City. Dr. Bassirnia is a second-year psychiatry resident at Mount Sinai Beth Israel. Scan the QR code to read more Families in Psychiatry columns at clinicalpsychiatrynews.com.

Naomi is a 61-year-old woman who has lived with bipolar disorder and its stigma for 30 years. After a major manic episode and hospitalization, she entered into family treatment at the urging of her three daughters. Previously, her husband had been the primary force in guiding her psychiatric care, and she had been in treatment with a psychiatrist who is his professional colleague.

The patient’s first depressive episode began in the postpartum period, but she did not seek help at that time because she thought that her feelings were normal for a new mother. She did not receive any psychiatric attention until she cycled into mania and called the police for fear her child was being poisoned by neighbors. Her most recent manic episode occurred after she stopped her medications because of concerns about side effects. She was too embarrassed to tell her husband or doctor. She routinely fails to tell her other medical doctors that she is on mood stabilizers, because she does not want them to know she has bipolar disorder.

As Naomi recovers from the most recent manic episode and settles into family treatment, she is struggling with the consequences of her actions to her family. In family therapy in the past, her husband has revealed his belief that he has been protecting the family from Naomi’s mania and protecting Naomi from "embarrassing herself." This is difficult for Naomi to hear as she has always prided herself on being a good mother and protecting her daughters. Naomi’s situation illustrates the difficulty of coping with a diagnosis of bipolar disorder, the consequences of the illness on the family, and the importance of addressing stigma.

How stigma gets in the way

As discussed previously by Dr. Alison M. Heru ("Mental illness stigma is a family affair," Clinical Psychiatry News, April 2014, p. 8), stigma, when internalized or self-directed, can lead to psychological distress, decreased self-esteem and life satisfaction, and increased depression and suicidality (Compr. Psychiatry 2010;51:603-6). Close family members of those with mental disorders are affected by stigma, commonly referred to as "stigma by association" or "courtesy stigma."

Up to 92% of caregivers of people with psychiatric disorders have reported internalized stigma (J. Psychiatr. Ment. Health Nurs. 2012;19:665-71). These family members become distant and avoidant, resulting in a reduced quality of life and an impaired ability to provide critical support for their loved ones. Caregiver anxiety is inversely related to patient anxiety, stigma, and poor alliance (J. Nerv. Ment. Disease 2011;199:18-24).

As a result of these factors, while people with psychiatric disorders have to cope with their own mental illness as well as the public and self-stigma that alienate them from society, they also are at risk of losing their family connections.

In order to confront stigma, the Family Center for Bipolar Disorder in New York City, for example, uses a Family Inclusive Treatment (FIT) model. The FIT model includes an engagement period at the initiation of treatment that is focused on psychoeducation and relapse prevention planning. FIT is unique in that every patient is required to sign a release of information giving permission for full, open communication at all times between the patient’s clinician and a treatment partner of their choice. After the initial engagement period, there are quarterly family visits to supplement regular individual treatment sessions. FIT treatment promotes open communication about symptoms and medications. FIT strives to minimize patient isolation from families; they can talk openly with one another and their clinician.

After seeing many families enter treatment, FIT staff noticed the prominence of stigma.

We have begun to ask about stigma directly. Do people with more stigma do worse in treatment? Do they adhere more poorly to treatment? Do their families tend to become less involved over time? To begin, Dr. Mednick and staff examined demographic data looking for factors that might predispose a person to experience increased stigma.

In terms of diagnosis, people with more internalizing disorders such as depression and anxiety disorders tend to experience more stigma. Distress is experienced internally. As Dr. Bassirnia and her colleagues wrote in a poster presented at the recent American Psychiatric Association meeting, people with externalizing disorders, such as substance abuse and antisocial disorders, are more likely to express their distress outwardly and are less likely to suffer from stigma ("The relationship between personality traits and perceived internalized stigma in bipolar patients and their caregivers," 2014).

Meanwhile, two systematic review studies have reported moderate to high levels of internalized stigma in people with bipolar disorder. In these studies, a higher level of internalized stigma had a negative correlation with self-esteem, social adjustment, and perceived social support, and positive correlation with severity of symptoms, functional impairment, and rehospitalization. In spite of having more severe symptoms; people with higher levels of self-stigma are less likely to seek professional help and adhere to their treatment. Stigma by association and its negative consequences in caregivers of people with mental disorders also have been reported (J. Affect. Disord. 2013;150:181-91).

 

A useful and easy to administer scale that helps to identify stigma is the "Perceived Criticism Scale" (J. Abnorm. Psychol. 1989;98:225-35). By asking four questions, the clinician can get a good sense of family dynamics and can monitor the progress and change over time. The questions rate perception on a scale of 1-10, where "X" is the other person involved in treatment, either patient or caregiver. Here are the questions:

1. How critical do you think you are of X?

2. How critical do you think X is of you?

3. When X criticizes you, how upset do you get?

4. When you criticize X, how upset does he/she get?

For families with high scores, follow-up is needed. The Internalized Stigma of Mental Illness (ISMI) scale (Psychiatry Res. 2003;121:31-49) can be used. The ISMI scale makes statements about stigma for which participants rate their agreement on a Likert scale, such as:

• I don’t talk about myself much because I don’t want to burden others with my mental illness.

• Being around people who don’t have a mental illness makes me feel out of place or inadequate.

• People can tell that I have a mental illness by the way I look.

• Mentally ill people tend to be violent.

• I feel out of place in the world because I have a mental illness.

The ISMI scale contains 29 short, simple statements like the ones above and can be completed in less than 10 minutes. The statements are designed to avoid hypothetical situations, stay focused in the present, and address the participant’s own identity and experience.

Using the tools in practice

Naomi entered family treatment with her husband and daughters. Using the ISMI to measure the stigma of mental illness that each family member was experiencing, Naomi was shocked to see that her daughters felt far less stigma about having a mother with mental illness than she had assumed. In turn, her daughters were shocked at how much stigma Naomi was experiencing. Naomi’s husband scored between them. This data paved the way for an open family conversation about how Naomi’s illness had affected their lives, and especially how Naomi’s husband and his perceptions of her illness had affected her treatment course.

Caregivers play a very important role in bipolar disorder. After all, the illness can lead to difficulty functioning and can threaten the family’s stability. Sometimes caregivers can serve as a source of strength and a beacon of stability in the occasional storm. It is hard for the family between the storms, when the same flashing beacon can be a constant reminder to the patient of their illness. Often, well intentioned concerns become constant checking up, making the patient feel stigmatized and expected to fail.

"Good" caregivers will be aware of the stigma and the impact it has on their loved one and on themselves, without becoming a source of stigma.

Dr. Mednick is an attending psychiatrist at the Family Center for Bipolar at Mount Sinai Beth Israel in New York City. Dr. Bassirnia is a second-year psychiatry resident at Mount Sinai Beth Israel. Scan the QR code to read more Families in Psychiatry columns at clinicalpsychiatrynews.com.

A scientist’s chances of landing a faculty position at an academic institution are predictable based solely on his or her publication record, according to a study published in Current Biology.

Chances depend mostly on the number of publications the scientist has, the impact factor of the journals in which those papers are published, and the number of papers that receive more citations than expected based on the journal in which they were published, the researchers said.

“We’d like to start a discussion on what factors are taken into account when people are selected to become a principal investigator,” said study author David van Dijk, PhD, of the Weizmann Institute of Science in Rehovot, Israel.

“On the one hand, these results are encouraging, because they suggest that people are promoted based on merit. On the other hand, many of the most groundbreaking papers were not published in high-impact-factor journals and did not initially receive a high number of citations. This filtering method will certainly miss some phenomenal and ahead-of-their time scientists.”

Dr Van Dijk said he and his colleagues were motivated by endless conversations with fellow graduate students and post docs, who were dreaming of their first paper in a prestigious journal. There was the sense that those publications were the tickets to success.

So Dr van Dijk and his colleagues wanted to see if they could find evidence to that effect. And, indeed, they could.

The researchers generated publication record data for more than 25,000 scientists and used a machine-learning approach to generate a model of each individual’s chances of moving from the first-author position, typically reserved for trainees, to the last-author position, a place most often held by principal investigators (PIs).

“We find that whether or not a scientist becomes a PI is largely predictable by their publication record, even taking into account only the first few years of publication,” the researchers reported. “Our model is able to predict with relatively high accuracy who becomes a PI and is also able to predict how long this will take.”

To calculate your own likelihood of success using this model, visit: http://www.pipredictor.com.

Dr Van Dijk said the study results suggest the current system is working. Understanding how it works might be useful for those thinking through their careers or for those on hiring committees who might like to allow factors outside of the publication record to factor more significantly in hiring decisions.

The authors don’t recommend that scientists make decisions about their futures based solely on their PI prediction scores, of course. There are surely plenty of other harder-to-quantify factors that can also play a role. And there is some hopeful news for those who are persistent, even if they haven’t landed that stellar paper just yet.

“There is an element of luck in getting a paper in Nature, Cell, or Science, so it can be frustrating if you think you are a good scientist and want to succeed, but that high-impact-factor paper just doesn’t happen,” Dr van Dijk said.

“It’s encouraging that we find that doing good-quality science on a consistent basis—as evidenced by multiple first-author papers of reasonable impact factor—does seem to be rewarded in the end.”

A scientist’s chances of landing a faculty position at an academic institution are predictable based solely on his or her publication record, according to a study published in Current Biology.

Chances depend mostly on the number of publications the scientist has, the impact factor of the journals in which those papers are published, and the number of papers that receive more citations than expected based on the journal in which they were published, the researchers said.

“We’d like to start a discussion on what factors are taken into account when people are selected to become a principal investigator,” said study author David van Dijk, PhD, of the Weizmann Institute of Science in Rehovot, Israel.

“On the one hand, these results are encouraging, because they suggest that people are promoted based on merit. On the other hand, many of the most groundbreaking papers were not published in high-impact-factor journals and did not initially receive a high number of citations. This filtering method will certainly miss some phenomenal and ahead-of-their time scientists.”

Dr Van Dijk said he and his colleagues were motivated by endless conversations with fellow graduate students and post docs, who were dreaming of their first paper in a prestigious journal. There was the sense that those publications were the tickets to success.

So Dr van Dijk and his colleagues wanted to see if they could find evidence to that effect. And, indeed, they could.

The researchers generated publication record data for more than 25,000 scientists and used a machine-learning approach to generate a model of each individual’s chances of moving from the first-author position, typically reserved for trainees, to the last-author position, a place most often held by principal investigators (PIs).

“We find that whether or not a scientist becomes a PI is largely predictable by their publication record, even taking into account only the first few years of publication,” the researchers reported. “Our model is able to predict with relatively high accuracy who becomes a PI and is also able to predict how long this will take.”

To calculate your own likelihood of success using this model, visit: http://www.pipredictor.com.

Dr Van Dijk said the study results suggest the current system is working. Understanding how it works might be useful for those thinking through their careers or for those on hiring committees who might like to allow factors outside of the publication record to factor more significantly in hiring decisions.

The authors don’t recommend that scientists make decisions about their futures based solely on their PI prediction scores, of course. There are surely plenty of other harder-to-quantify factors that can also play a role. And there is some hopeful news for those who are persistent, even if they haven’t landed that stellar paper just yet.

“There is an element of luck in getting a paper in Nature, Cell, or Science, so it can be frustrating if you think you are a good scientist and want to succeed, but that high-impact-factor paper just doesn’t happen,” Dr van Dijk said.

“It’s encouraging that we find that doing good-quality science on a consistent basis—as evidenced by multiple first-author papers of reasonable impact factor—does seem to be rewarded in the end.”

A scientist’s chances of landing a faculty position at an academic institution are predictable based solely on his or her publication record, according to a study published in Current Biology.

Chances depend mostly on the number of publications the scientist has, the impact factor of the journals in which those papers are published, and the number of papers that receive more citations than expected based on the journal in which they were published, the researchers said.

“We’d like to start a discussion on what factors are taken into account when people are selected to become a principal investigator,” said study author David van Dijk, PhD, of the Weizmann Institute of Science in Rehovot, Israel.

“On the one hand, these results are encouraging, because they suggest that people are promoted based on merit. On the other hand, many of the most groundbreaking papers were not published in high-impact-factor journals and did not initially receive a high number of citations. This filtering method will certainly miss some phenomenal and ahead-of-their time scientists.”

Dr Van Dijk said he and his colleagues were motivated by endless conversations with fellow graduate students and post docs, who were dreaming of their first paper in a prestigious journal. There was the sense that those publications were the tickets to success.

So Dr van Dijk and his colleagues wanted to see if they could find evidence to that effect. And, indeed, they could.

The researchers generated publication record data for more than 25,000 scientists and used a machine-learning approach to generate a model of each individual’s chances of moving from the first-author position, typically reserved for trainees, to the last-author position, a place most often held by principal investigators (PIs).

“We find that whether or not a scientist becomes a PI is largely predictable by their publication record, even taking into account only the first few years of publication,” the researchers reported. “Our model is able to predict with relatively high accuracy who becomes a PI and is also able to predict how long this will take.”

To calculate your own likelihood of success using this model, visit: http://www.pipredictor.com.

Dr Van Dijk said the study results suggest the current system is working. Understanding how it works might be useful for those thinking through their careers or for those on hiring committees who might like to allow factors outside of the publication record to factor more significantly in hiring decisions.

The authors don’t recommend that scientists make decisions about their futures based solely on their PI prediction scores, of course. There are surely plenty of other harder-to-quantify factors that can also play a role. And there is some hopeful news for those who are persistent, even if they haven’t landed that stellar paper just yet.

“There is an element of luck in getting a paper in Nature, Cell, or Science, so it can be frustrating if you think you are a good scientist and want to succeed, but that high-impact-factor paper just doesn’t happen,” Dr van Dijk said.

“It’s encouraging that we find that doing good-quality science on a consistent basis—as evidenced by multiple first-author papers of reasonable impact factor—does seem to be rewarded in the end.”

Bullying affects approximately 20% of children, according to a 2012 survey of 20,000 students in grades 3-12 (Bullying in U.S. Schools 2012 Status Report, published by the Hazelden Foundation 2013).

As pediatricians, we have all faced the grieving parent distraught by the ill treatment of their child. Many of us have probably felt helpless because it’s not a medical issue – or is it? I think we can all agree that it doesn’t start as a medical issue, but for sure it can end as one.

Anxiety, depression, cutting, abdominal pain, headaches, and weight loss can all be the end result of the stress of bullying. Some children are able to be honest about how they are feeling, but many internalize it and parents are sometimes the last to know. Approximately 160,000 students stay home from school everyday because of bullying, according to the National Association of School Psychologists.

Many school systems have adopted antibullying programs in which children are educated on the effects of bullying, how to treat their peers, and what to do if they are bullied. But some recent research shows that these programs may not be successful, and bullying rates are actually higher at schools that have implemented these programs, according to the Canadian Journal of School Psychology (2011;26:283-300).

One of the main differences with bullying now is that social media may play a significant role in the extent of the bullying. Facebook, Instagram, and Snapchat are vehicles that are used by the bully and that can make the extent of the damage much worse. Twenty years ago, a rumor had to spread by word of mouth; now, with just a touch of a button, hundreds of students can see and know of the ill-intended work of a bully.

"Bullycide" is a newly coined term that suggests a child committed suicide because she was bullied. The rate of these occurrences is rising largely because of the attention placed on bullying, but the media also serves as an information trail, which allows us to connect the dots more clearly.

Intervention that we can do as professionals is to identify things that may put a student at risk and try to intervene early. Severe acne, obesity, and social anxiety are all things that can be treated to improve a child’s self-esteem and make them less of a target. Parents are not always in tune to this because their love is unconditional, and they may not recognize the role these play. Using the well-child visit to uncover these issues and offer treatment for things that may not have been brought up.

When approached by parents who are seeking help, directing them to the stopbullyingnow.gov provides a great source of information that can help parents navigate dealing with the school and helping the child deal with stress. The CyberBully Hotline is a program that schools can implement that allows parents and student to anonymously report cyberbullying. This has been shown to be extremely effective in reducing the number of fights that occur.

Parents should be educated that any threat of suicide should be taken seriously, and an immediate intervention should be taken. 800-273-TALK is the suicide hotline that parents can use if they are concerned that their child is at risk. Emergency departments are equipped with social workers who can assess if hospitalization is necessary or if a child should be followed as an outpatient.

Dr. Pearce is a pediatrician in Frankfort, Ill. E-mail her at [email protected].

Bullying affects approximately 20% of children, according to a 2012 survey of 20,000 students in grades 3-12 (Bullying in U.S. Schools 2012 Status Report, published by the Hazelden Foundation 2013).

As pediatricians, we have all faced the grieving parent distraught by the ill treatment of their child. Many of us have probably felt helpless because it’s not a medical issue – or is it? I think we can all agree that it doesn’t start as a medical issue, but for sure it can end as one.

Anxiety, depression, cutting, abdominal pain, headaches, and weight loss can all be the end result of the stress of bullying. Some children are able to be honest about how they are feeling, but many internalize it and parents are sometimes the last to know. Approximately 160,000 students stay home from school everyday because of bullying, according to the National Association of School Psychologists.

Many school systems have adopted antibullying programs in which children are educated on the effects of bullying, how to treat their peers, and what to do if they are bullied. But some recent research shows that these programs may not be successful, and bullying rates are actually higher at schools that have implemented these programs, according to the Canadian Journal of School Psychology (2011;26:283-300).

One of the main differences with bullying now is that social media may play a significant role in the extent of the bullying. Facebook, Instagram, and Snapchat are vehicles that are used by the bully and that can make the extent of the damage much worse. Twenty years ago, a rumor had to spread by word of mouth; now, with just a touch of a button, hundreds of students can see and know of the ill-intended work of a bully.

"Bullycide" is a newly coined term that suggests a child committed suicide because she was bullied. The rate of these occurrences is rising largely because of the attention placed on bullying, but the media also serves as an information trail, which allows us to connect the dots more clearly.

Intervention that we can do as professionals is to identify things that may put a student at risk and try to intervene early. Severe acne, obesity, and social anxiety are all things that can be treated to improve a child’s self-esteem and make them less of a target. Parents are not always in tune to this because their love is unconditional, and they may not recognize the role these play. Using the well-child visit to uncover these issues and offer treatment for things that may not have been brought up.

When approached by parents who are seeking help, directing them to the stopbullyingnow.gov provides a great source of information that can help parents navigate dealing with the school and helping the child deal with stress. The CyberBully Hotline is a program that schools can implement that allows parents and student to anonymously report cyberbullying. This has been shown to be extremely effective in reducing the number of fights that occur.

Parents should be educated that any threat of suicide should be taken seriously, and an immediate intervention should be taken. 800-273-TALK is the suicide hotline that parents can use if they are concerned that their child is at risk. Emergency departments are equipped with social workers who can assess if hospitalization is necessary or if a child should be followed as an outpatient.

Dr. Pearce is a pediatrician in Frankfort, Ill. E-mail her at [email protected].

Bullying affects approximately 20% of children, according to a 2012 survey of 20,000 students in grades 3-12 (Bullying in U.S. Schools 2012 Status Report, published by the Hazelden Foundation 2013).

As pediatricians, we have all faced the grieving parent distraught by the ill treatment of their child. Many of us have probably felt helpless because it’s not a medical issue – or is it? I think we can all agree that it doesn’t start as a medical issue, but for sure it can end as one.

Anxiety, depression, cutting, abdominal pain, headaches, and weight loss can all be the end result of the stress of bullying. Some children are able to be honest about how they are feeling, but many internalize it and parents are sometimes the last to know. Approximately 160,000 students stay home from school everyday because of bullying, according to the National Association of School Psychologists.

Many school systems have adopted antibullying programs in which children are educated on the effects of bullying, how to treat their peers, and what to do if they are bullied. But some recent research shows that these programs may not be successful, and bullying rates are actually higher at schools that have implemented these programs, according to the Canadian Journal of School Psychology (2011;26:283-300).

One of the main differences with bullying now is that social media may play a significant role in the extent of the bullying. Facebook, Instagram, and Snapchat are vehicles that are used by the bully and that can make the extent of the damage much worse. Twenty years ago, a rumor had to spread by word of mouth; now, with just a touch of a button, hundreds of students can see and know of the ill-intended work of a bully.

"Bullycide" is a newly coined term that suggests a child committed suicide because she was bullied. The rate of these occurrences is rising largely because of the attention placed on bullying, but the media also serves as an information trail, which allows us to connect the dots more clearly.

Intervention that we can do as professionals is to identify things that may put a student at risk and try to intervene early. Severe acne, obesity, and social anxiety are all things that can be treated to improve a child’s self-esteem and make them less of a target. Parents are not always in tune to this because their love is unconditional, and they may not recognize the role these play. Using the well-child visit to uncover these issues and offer treatment for things that may not have been brought up.

When approached by parents who are seeking help, directing them to the stopbullyingnow.gov provides a great source of information that can help parents navigate dealing with the school and helping the child deal with stress. The CyberBully Hotline is a program that schools can implement that allows parents and student to anonymously report cyberbullying. This has been shown to be extremely effective in reducing the number of fights that occur.

Parents should be educated that any threat of suicide should be taken seriously, and an immediate intervention should be taken. 800-273-TALK is the suicide hotline that parents can use if they are concerned that their child is at risk. Emergency departments are equipped with social workers who can assess if hospitalization is necessary or if a child should be followed as an outpatient.

Dr. Pearce is a pediatrician in Frankfort, Ill. E-mail her at [email protected].

MILAN, ITALY—New research suggests exome sequencing does not always produce high-quality results with regard to subsets of genes.

The American College of Medical Genetics and Genomics (ACMG) recommends physicians inform patients of clinically actionable genetic findings in the course of clinical exome testing.

Specifically, mutations in 56 specific genes with known clinical importance should be reported, even when they are incidental to the patient’s medical condition.

However, an analysis of 44 exome datasets from 4 different testing kits showed that they missed a high proportion of clinically relevant regions in the 56 ACMG genes.

“At least 1 gene in each exome method was missing more than 40% of disease-causing genetic variants, and we found that the worst-performing method missed more than 90% of such variants in four of the 56 genes,” said Eric Londin, PhD, of Thomas Jefferson University in Philadelphia, Pennsylvania.

He and his colleagues presented these findings at the European Society of Human Genetics Conference 2014 (abstract C07.6).

A central question, according to the researchers, is not how often a clinical diagnosis can be made using exome sequencing, but how often it is missed. And this study suggests there is a high false-negative rate using existing sequencing kits.

“Our concern is that when a clinical exome analysis does not report a disease-causing genetic variant, it may be that the location of that variant has not been analyzed, rather than the patient’s DNA being free of a disease-causing variant,” Dr Londin said.

“Depending on the method and the laboratory, a significant fraction (more than 10%) of the exome may be untested, and this raises concerns as to how results are being communicated to patients and their families.”

A total of 17,774 disease-causing genetic variants are annotated in the Human Gene Mutation Database for the 56 genes mentioned in the ACMG recommendations. The researchers examined the coverage of the exome datasets for the locations where the 17,774 disease-causing variants can occur.

Although the exome datasets are comparable in quality to other published clinical and research exome data sets, the coverage of the disease-causing locations was very heterogeneous and often poor.

The researchers believe that clinical labs that implement the ACMG reporting guidelines should recognize the substantial possibility of reporting false negative results.

The team said one potential improvement would be to have clinical exome sequencing use methods designed to provide a maximum yield of all clinically relevant genes.

“Many of the currently used exome kits are designed to provide a very broad dataset including genomic features that do not yet have a well-established clinical association,” Dr Londin said.

“There is a need to develop new kits and methods which provide adequate and reliable coverage of genes with known disease associations. If adequate performance cannot be obtained across the exome, then further use of targeted disease-specific panels of genes should be explored.”

The researchers also found that exome datasets generated from low amounts of sequence data (fewer than 6 gigabases) performed much worse than datasets that were generated from higher amounts of sequence data (more than 10 gigabases).

This finding is consistent with previous studies showing that exome methods do not have a linear relationship between sequence-generated and nucleotide coverage. Instead, a minimum threshold of sequencing data needs to be met before optimum nucleotide coverage is obtained.

“Current consensus and regulatory guidelines do not prescribe a minimum data requirement for clinical exome tests,” Dr Londin said. “The result is that when a causative variant cannot be identified, it does not necessarily imply that the variant is not present, rather that there may be a technical issue with the exome technology used.”

 

“In other words, a clinical ‘whole-exome’ study may not be ‘wholesome’ in coverage. Patients and their families should be made aware of this problem and of the implications of the genomic findings of clinical exome sequencing in its current state.”

MILAN, ITALY—New research suggests exome sequencing does not always produce high-quality results with regard to subsets of genes.

The American College of Medical Genetics and Genomics (ACMG) recommends physicians inform patients of clinically actionable genetic findings in the course of clinical exome testing.

Specifically, mutations in 56 specific genes with known clinical importance should be reported, even when they are incidental to the patient’s medical condition.

However, an analysis of 44 exome datasets from 4 different testing kits showed that they missed a high proportion of clinically relevant regions in the 56 ACMG genes.

“At least 1 gene in each exome method was missing more than 40% of disease-causing genetic variants, and we found that the worst-performing method missed more than 90% of such variants in four of the 56 genes,” said Eric Londin, PhD, of Thomas Jefferson University in Philadelphia, Pennsylvania.

He and his colleagues presented these findings at the European Society of Human Genetics Conference 2014 (abstract C07.6).

A central question, according to the researchers, is not how often a clinical diagnosis can be made using exome sequencing, but how often it is missed. And this study suggests there is a high false-negative rate using existing sequencing kits.

“Our concern is that when a clinical exome analysis does not report a disease-causing genetic variant, it may be that the location of that variant has not been analyzed, rather than the patient’s DNA being free of a disease-causing variant,” Dr Londin said.

“Depending on the method and the laboratory, a significant fraction (more than 10%) of the exome may be untested, and this raises concerns as to how results are being communicated to patients and their families.”

A total of 17,774 disease-causing genetic variants are annotated in the Human Gene Mutation Database for the 56 genes mentioned in the ACMG recommendations. The researchers examined the coverage of the exome datasets for the locations where the 17,774 disease-causing variants can occur.

Although the exome datasets are comparable in quality to other published clinical and research exome data sets, the coverage of the disease-causing locations was very heterogeneous and often poor.

The researchers believe that clinical labs that implement the ACMG reporting guidelines should recognize the substantial possibility of reporting false negative results.

The team said one potential improvement would be to have clinical exome sequencing use methods designed to provide a maximum yield of all clinically relevant genes.

“Many of the currently used exome kits are designed to provide a very broad dataset including genomic features that do not yet have a well-established clinical association,” Dr Londin said.

“There is a need to develop new kits and methods which provide adequate and reliable coverage of genes with known disease associations. If adequate performance cannot be obtained across the exome, then further use of targeted disease-specific panels of genes should be explored.”

The researchers also found that exome datasets generated from low amounts of sequence data (fewer than 6 gigabases) performed much worse than datasets that were generated from higher amounts of sequence data (more than 10 gigabases).

This finding is consistent with previous studies showing that exome methods do not have a linear relationship between sequence-generated and nucleotide coverage. Instead, a minimum threshold of sequencing data needs to be met before optimum nucleotide coverage is obtained.

“Current consensus and regulatory guidelines do not prescribe a minimum data requirement for clinical exome tests,” Dr Londin said. “The result is that when a causative variant cannot be identified, it does not necessarily imply that the variant is not present, rather that there may be a technical issue with the exome technology used.”

 

“In other words, a clinical ‘whole-exome’ study may not be ‘wholesome’ in coverage. Patients and their families should be made aware of this problem and of the implications of the genomic findings of clinical exome sequencing in its current state.”

MILAN, ITALY—New research suggests exome sequencing does not always produce high-quality results with regard to subsets of genes.

The American College of Medical Genetics and Genomics (ACMG) recommends physicians inform patients of clinically actionable genetic findings in the course of clinical exome testing.

Specifically, mutations in 56 specific genes with known clinical importance should be reported, even when they are incidental to the patient’s medical condition.

However, an analysis of 44 exome datasets from 4 different testing kits showed that they missed a high proportion of clinically relevant regions in the 56 ACMG genes.

“At least 1 gene in each exome method was missing more than 40% of disease-causing genetic variants, and we found that the worst-performing method missed more than 90% of such variants in four of the 56 genes,” said Eric Londin, PhD, of Thomas Jefferson University in Philadelphia, Pennsylvania.

He and his colleagues presented these findings at the European Society of Human Genetics Conference 2014 (abstract C07.6).

A central question, according to the researchers, is not how often a clinical diagnosis can be made using exome sequencing, but how often it is missed. And this study suggests there is a high false-negative rate using existing sequencing kits.

“Our concern is that when a clinical exome analysis does not report a disease-causing genetic variant, it may be that the location of that variant has not been analyzed, rather than the patient’s DNA being free of a disease-causing variant,” Dr Londin said.

“Depending on the method and the laboratory, a significant fraction (more than 10%) of the exome may be untested, and this raises concerns as to how results are being communicated to patients and their families.”

A total of 17,774 disease-causing genetic variants are annotated in the Human Gene Mutation Database for the 56 genes mentioned in the ACMG recommendations. The researchers examined the coverage of the exome datasets for the locations where the 17,774 disease-causing variants can occur.

Although the exome datasets are comparable in quality to other published clinical and research exome data sets, the coverage of the disease-causing locations was very heterogeneous and often poor.

The researchers believe that clinical labs that implement the ACMG reporting guidelines should recognize the substantial possibility of reporting false negative results.

The team said one potential improvement would be to have clinical exome sequencing use methods designed to provide a maximum yield of all clinically relevant genes.

“Many of the currently used exome kits are designed to provide a very broad dataset including genomic features that do not yet have a well-established clinical association,” Dr Londin said.

“There is a need to develop new kits and methods which provide adequate and reliable coverage of genes with known disease associations. If adequate performance cannot be obtained across the exome, then further use of targeted disease-specific panels of genes should be explored.”

The researchers also found that exome datasets generated from low amounts of sequence data (fewer than 6 gigabases) performed much worse than datasets that were generated from higher amounts of sequence data (more than 10 gigabases).

This finding is consistent with previous studies showing that exome methods do not have a linear relationship between sequence-generated and nucleotide coverage. Instead, a minimum threshold of sequencing data needs to be met before optimum nucleotide coverage is obtained.

“Current consensus and regulatory guidelines do not prescribe a minimum data requirement for clinical exome tests,” Dr Londin said. “The result is that when a causative variant cannot be identified, it does not necessarily imply that the variant is not present, rather that there may be a technical issue with the exome technology used.”

 

“In other words, a clinical ‘whole-exome’ study may not be ‘wholesome’ in coverage. Patients and their families should be made aware of this problem and of the implications of the genomic findings of clinical exome sequencing in its current state.”

By now, most hospitalists are at least familiar with the Choosing Wisely campaign, which has been widely published and embraced by numerous medical societies, including the Society of Hospital Medicine.¹ This campaign was conceived in 2009 by the National Physicians Alliance, which developed simple lists for three primary care specialties—internal medicine, pediatrics, and family medicine—to help them become more effective in utilizing specific resources.

The effort was first published in the Archives of Internal Medicine in 2011 by the “Good Stewardship Working Group,” which outlined the five most overutilized types of care by the three groups, including items such as routinely ordering complete blood counts or electrocardiograms, prescribing brand name versus generic statin drugs, and prescribing antibiotics for pediatric pharyngitis. From this small list alone, they found incredible variability among primary care practices, with utilization of these services ranging from 1% to 56% and resulting in an estimated annual cost of $6.8 billion. Although this first pilot found simple reductions in utilization can have a powerful impact on cost, the group estimated that this overutilization in primary care is only a very small fraction of overutilization cost in the U.S. As such, they called upon other specialties outside of primary care to identify their own sets of targets to reduce unnecessary utilization of low-value services.

Many specialty groups heeded this call to action, which resulted in the Choosing Wisely campaign, launched in April 2012. In just two short years, this simple effort has expanded to published recommendations about resource use in more than 60 specialty societies.² Like the original primary care list, most recommendations have focused on overutilization of diagnostic testing (imaging, cardiac testing, labs, pathology) and medication use. Later this year, the campaign will expand to include non-physician provider organizations, including the American Dental Association, the American Physical Therapy Association, and the American Academy of Nursing.

The Next Phase

The program has evolved from asking specialty groups to develop consensus and abide by their lists to targeting patients and their families so that they can understand and abide by those same lists. In fact, one of the major aims of the campaign is empowering patients to insist on care that is evidence based, necessary, not duplicative, and more beneficial than harmful. To do this, Consumer Reports has partnered up with the Choosing Wisely campaign to develop patient-friendly educational materials and with multiple consumer groups to help these materials reach their target audience. Major funding for the project has been provided by the American Board of Internal Medicine (ABIM) Foundation and the Robert Wood Johnson Foundation (RWJF). So far, they have awarded 21 projects.

These grants have been awarded to medical societies (see “SHM Choosing Wisely Case Study Competition,” p. 4), regional health organizations, and consumer advocate groups. Many of the tactics will include educational campaigns to teach practitioners about the content of the recommendations, programs aimed to enhance physician communication skills geared toward practicing physicians, other educational campaigns geared toward patients and families, and the establishment of a learning network to assist practices in quickly and effectively learning from one another how to implement the various recommendations.³

The three major assets of the Choosing Wisely campaign are:

• It attacks a core issue within the medical industry: Healthcare costs are higher here than in any other industrialized nation in the world, without clear evidence of higher quality to justify that cost;
• The lists are created by those who are responsible for most of the spending; and
• The campaign is spending resources to get information to the patients and their families so that there will be bilateral exchange and acceptance of the recommendations.

 

Without widespread patient education, overutilization will likely continue; a recent survey sponsored by the Choosing Wisely campaign found about half of physicians admitted they would order a test they know is unnecessary if the patient is insistent.⁴

Variable Outcomes

While there are many reasons to celebrate the success of the campaign, there is some concern that the Choosing Wisely campaign may have unintended consequences. Although a major driver in the success of the program is the fact that the lists have been created and endorsed by physician societies, a sort of “self-governance,” with no influence or impact from payers, critics of the program note the variability that each list has on the actual practice or revenue of the physician groups enacting the lists.

For example, a recent New England Journal of Medicine (NEJM) essay notes that the list produced by the American Academy of Orthopedic Surgeons does not include procedures that are high volume and variably valuable (such as knee arthoplasty) but does include over-the-counter medication use and low-volume procedures (such as needle lavage for knee osteoarthritis).5 Some societies list specialty services that need to be curbed but neglect to mention their own.

And, although the campaign specifically states on its website that the “recommendations should not be used to establish coverage decisions or exclusions,” some are legitimately concerned that these Choosing Wisely lists might very well be used by payers and/or quality reporting bodies to determine payments. This is undeniably tempting: How can practitioners argue against public display and reimbursement schemes being tightly tethered to their performance on metrics that they themselves have deemed unnecessary? As the NEJM editorial summarizes, these efforts should be embraced as long as there is thoughtful discussion about inclusion criteria, exclusion criteria, and measurement beforehand.⁵

In Sum

Despite concerns, the impact of the Choosing Wisely campaign has been widespread and impressive. The full extent to which this will have an impact on utilization and healthcare cost remains to be seen, but this yeoman’s attempt to reduce waste by providers is long overdue. Whether the program will be used for unintended purposes, such as public reporting, financial penalties, or incentives for performance, is still unknown, but physician groups should be paying close attention to the lists that we can impact, and we should pledge to be good stewards of the finite healthcare resources available to our patients.

---

Dr. Scheurer is a hospitalist and chief quality officer at the Medical University of South Carolina in Charleston. She is physician editor of The Hospitalist. Email her at [email protected].

References

1. Choosing Wisely Campaign. Available at: http://www.choosingwisely.org. Accessed May 11, 2014.
2. Choosing Wisely Consumer Partners. Available at: http://www.choosingwisely.org/partners. Access May 11, 2014.
3. Choosing Wisely Grantees. Available at: http://www.choosingwisely.org/grantees. Accessed May 11, 2014.
4. Choosing Wisely & Consumer Reports. Available at: http://consumerhealthchoices.org/wp-content/uploads/2014/03/ChoosingWiselyAndConsumerHealthChoices.pdf. Accessed May 11, 2014.
5. Morden ME, Colla CH, Sequist TD, Rosenthal MB. Choosing Wisely—the politics and economics of labeling low-value services. Available at: http://www.nejm.org/doi/full/10.1056/NEJMp1314965. Accessed May 11, 2014.

By now, most hospitalists are at least familiar with the Choosing Wisely campaign, which has been widely published and embraced by numerous medical societies, including the Society of Hospital Medicine.¹ This campaign was conceived in 2009 by the National Physicians Alliance, which developed simple lists for three primary care specialties—internal medicine, pediatrics, and family medicine—to help them become more effective in utilizing specific resources.

The effort was first published in the Archives of Internal Medicine in 2011 by the “Good Stewardship Working Group,” which outlined the five most overutilized types of care by the three groups, including items such as routinely ordering complete blood counts or electrocardiograms, prescribing brand name versus generic statin drugs, and prescribing antibiotics for pediatric pharyngitis. From this small list alone, they found incredible variability among primary care practices, with utilization of these services ranging from 1% to 56% and resulting in an estimated annual cost of $6.8 billion. Although this first pilot found simple reductions in utilization can have a powerful impact on cost, the group estimated that this overutilization in primary care is only a very small fraction of overutilization cost in the U.S. As such, they called upon other specialties outside of primary care to identify their own sets of targets to reduce unnecessary utilization of low-value services.

Many specialty groups heeded this call to action, which resulted in the Choosing Wisely campaign, launched in April 2012. In just two short years, this simple effort has expanded to published recommendations about resource use in more than 60 specialty societies.² Like the original primary care list, most recommendations have focused on overutilization of diagnostic testing (imaging, cardiac testing, labs, pathology) and medication use. Later this year, the campaign will expand to include non-physician provider organizations, including the American Dental Association, the American Physical Therapy Association, and the American Academy of Nursing.

The Next Phase

The program has evolved from asking specialty groups to develop consensus and abide by their lists to targeting patients and their families so that they can understand and abide by those same lists. In fact, one of the major aims of the campaign is empowering patients to insist on care that is evidence based, necessary, not duplicative, and more beneficial than harmful. To do this, Consumer Reports has partnered up with the Choosing Wisely campaign to develop patient-friendly educational materials and with multiple consumer groups to help these materials reach their target audience. Major funding for the project has been provided by the American Board of Internal Medicine (ABIM) Foundation and the Robert Wood Johnson Foundation (RWJF). So far, they have awarded 21 projects.

These grants have been awarded to medical societies (see “SHM Choosing Wisely Case Study Competition,” p. 4), regional health organizations, and consumer advocate groups. Many of the tactics will include educational campaigns to teach practitioners about the content of the recommendations, programs aimed to enhance physician communication skills geared toward practicing physicians, other educational campaigns geared toward patients and families, and the establishment of a learning network to assist practices in quickly and effectively learning from one another how to implement the various recommendations.³

The three major assets of the Choosing Wisely campaign are:

• It attacks a core issue within the medical industry: Healthcare costs are higher here than in any other industrialized nation in the world, without clear evidence of higher quality to justify that cost;
• The lists are created by those who are responsible for most of the spending; and
• The campaign is spending resources to get information to the patients and their families so that there will be bilateral exchange and acceptance of the recommendations.

 

Without widespread patient education, overutilization will likely continue; a recent survey sponsored by the Choosing Wisely campaign found about half of physicians admitted they would order a test they know is unnecessary if the patient is insistent.⁴

Variable Outcomes

While there are many reasons to celebrate the success of the campaign, there is some concern that the Choosing Wisely campaign may have unintended consequences. Although a major driver in the success of the program is the fact that the lists have been created and endorsed by physician societies, a sort of “self-governance,” with no influence or impact from payers, critics of the program note the variability that each list has on the actual practice or revenue of the physician groups enacting the lists.

For example, a recent New England Journal of Medicine (NEJM) essay notes that the list produced by the American Academy of Orthopedic Surgeons does not include procedures that are high volume and variably valuable (such as knee arthoplasty) but does include over-the-counter medication use and low-volume procedures (such as needle lavage for knee osteoarthritis).5 Some societies list specialty services that need to be curbed but neglect to mention their own.

And, although the campaign specifically states on its website that the “recommendations should not be used to establish coverage decisions or exclusions,” some are legitimately concerned that these Choosing Wisely lists might very well be used by payers and/or quality reporting bodies to determine payments. This is undeniably tempting: How can practitioners argue against public display and reimbursement schemes being tightly tethered to their performance on metrics that they themselves have deemed unnecessary? As the NEJM editorial summarizes, these efforts should be embraced as long as there is thoughtful discussion about inclusion criteria, exclusion criteria, and measurement beforehand.⁵

In Sum

Despite concerns, the impact of the Choosing Wisely campaign has been widespread and impressive. The full extent to which this will have an impact on utilization and healthcare cost remains to be seen, but this yeoman’s attempt to reduce waste by providers is long overdue. Whether the program will be used for unintended purposes, such as public reporting, financial penalties, or incentives for performance, is still unknown, but physician groups should be paying close attention to the lists that we can impact, and we should pledge to be good stewards of the finite healthcare resources available to our patients.

---

Dr. Scheurer is a hospitalist and chief quality officer at the Medical University of South Carolina in Charleston. She is physician editor of The Hospitalist. Email her at [email protected].

References

1. Choosing Wisely Campaign. Available at: http://www.choosingwisely.org. Accessed May 11, 2014.
2. Choosing Wisely Consumer Partners. Available at: http://www.choosingwisely.org/partners. Access May 11, 2014.
3. Choosing Wisely Grantees. Available at: http://www.choosingwisely.org/grantees. Accessed May 11, 2014.
4. Choosing Wisely & Consumer Reports. Available at: http://consumerhealthchoices.org/wp-content/uploads/2014/03/ChoosingWiselyAndConsumerHealthChoices.pdf. Accessed May 11, 2014.
5. Morden ME, Colla CH, Sequist TD, Rosenthal MB. Choosing Wisely—the politics and economics of labeling low-value services. Available at: http://www.nejm.org/doi/full/10.1056/NEJMp1314965. Accessed May 11, 2014.

By now, most hospitalists are at least familiar with the Choosing Wisely campaign, which has been widely published and embraced by numerous medical societies, including the Society of Hospital Medicine.¹ This campaign was conceived in 2009 by the National Physicians Alliance, which developed simple lists for three primary care specialties—internal medicine, pediatrics, and family medicine—to help them become more effective in utilizing specific resources.

The effort was first published in the Archives of Internal Medicine in 2011 by the “Good Stewardship Working Group,” which outlined the five most overutilized types of care by the three groups, including items such as routinely ordering complete blood counts or electrocardiograms, prescribing brand name versus generic statin drugs, and prescribing antibiotics for pediatric pharyngitis. From this small list alone, they found incredible variability among primary care practices, with utilization of these services ranging from 1% to 56% and resulting in an estimated annual cost of $6.8 billion. Although this first pilot found simple reductions in utilization can have a powerful impact on cost, the group estimated that this overutilization in primary care is only a very small fraction of overutilization cost in the U.S. As such, they called upon other specialties outside of primary care to identify their own sets of targets to reduce unnecessary utilization of low-value services.

Many specialty groups heeded this call to action, which resulted in the Choosing Wisely campaign, launched in April 2012. In just two short years, this simple effort has expanded to published recommendations about resource use in more than 60 specialty societies.² Like the original primary care list, most recommendations have focused on overutilization of diagnostic testing (imaging, cardiac testing, labs, pathology) and medication use. Later this year, the campaign will expand to include non-physician provider organizations, including the American Dental Association, the American Physical Therapy Association, and the American Academy of Nursing.

The Next Phase

The program has evolved from asking specialty groups to develop consensus and abide by their lists to targeting patients and their families so that they can understand and abide by those same lists. In fact, one of the major aims of the campaign is empowering patients to insist on care that is evidence based, necessary, not duplicative, and more beneficial than harmful. To do this, Consumer Reports has partnered up with the Choosing Wisely campaign to develop patient-friendly educational materials and with multiple consumer groups to help these materials reach their target audience. Major funding for the project has been provided by the American Board of Internal Medicine (ABIM) Foundation and the Robert Wood Johnson Foundation (RWJF). So far, they have awarded 21 projects.

These grants have been awarded to medical societies (see “SHM Choosing Wisely Case Study Competition,” p. 4), regional health organizations, and consumer advocate groups. Many of the tactics will include educational campaigns to teach practitioners about the content of the recommendations, programs aimed to enhance physician communication skills geared toward practicing physicians, other educational campaigns geared toward patients and families, and the establishment of a learning network to assist practices in quickly and effectively learning from one another how to implement the various recommendations.³

The three major assets of the Choosing Wisely campaign are:

• It attacks a core issue within the medical industry: Healthcare costs are higher here than in any other industrialized nation in the world, without clear evidence of higher quality to justify that cost;
• The lists are created by those who are responsible for most of the spending; and
• The campaign is spending resources to get information to the patients and their families so that there will be bilateral exchange and acceptance of the recommendations.

 

Without widespread patient education, overutilization will likely continue; a recent survey sponsored by the Choosing Wisely campaign found about half of physicians admitted they would order a test they know is unnecessary if the patient is insistent.⁴

Variable Outcomes

While there are many reasons to celebrate the success of the campaign, there is some concern that the Choosing Wisely campaign may have unintended consequences. Although a major driver in the success of the program is the fact that the lists have been created and endorsed by physician societies, a sort of “self-governance,” with no influence or impact from payers, critics of the program note the variability that each list has on the actual practice or revenue of the physician groups enacting the lists.

For example, a recent New England Journal of Medicine (NEJM) essay notes that the list produced by the American Academy of Orthopedic Surgeons does not include procedures that are high volume and variably valuable (such as knee arthoplasty) but does include over-the-counter medication use and low-volume procedures (such as needle lavage for knee osteoarthritis).5 Some societies list specialty services that need to be curbed but neglect to mention their own.

And, although the campaign specifically states on its website that the “recommendations should not be used to establish coverage decisions or exclusions,” some are legitimately concerned that these Choosing Wisely lists might very well be used by payers and/or quality reporting bodies to determine payments. This is undeniably tempting: How can practitioners argue against public display and reimbursement schemes being tightly tethered to their performance on metrics that they themselves have deemed unnecessary? As the NEJM editorial summarizes, these efforts should be embraced as long as there is thoughtful discussion about inclusion criteria, exclusion criteria, and measurement beforehand.⁵

In Sum

Despite concerns, the impact of the Choosing Wisely campaign has been widespread and impressive. The full extent to which this will have an impact on utilization and healthcare cost remains to be seen, but this yeoman’s attempt to reduce waste by providers is long overdue. Whether the program will be used for unintended purposes, such as public reporting, financial penalties, or incentives for performance, is still unknown, but physician groups should be paying close attention to the lists that we can impact, and we should pledge to be good stewards of the finite healthcare resources available to our patients.

---

Dr. Scheurer is a hospitalist and chief quality officer at the Medical University of South Carolina in Charleston. She is physician editor of The Hospitalist. Email her at [email protected].

References

1. Choosing Wisely Campaign. Available at: http://www.choosingwisely.org. Accessed May 11, 2014.
2. Choosing Wisely Consumer Partners. Available at: http://www.choosingwisely.org/partners. Access May 11, 2014.
3. Choosing Wisely Grantees. Available at: http://www.choosingwisely.org/grantees. Accessed May 11, 2014.
4. Choosing Wisely & Consumer Reports. Available at: http://consumerhealthchoices.org/wp-content/uploads/2014/03/ChoosingWiselyAndConsumerHealthChoices.pdf. Accessed May 11, 2014.
5. Morden ME, Colla CH, Sequist TD, Rosenthal MB. Choosing Wisely—the politics and economics of labeling low-value services. Available at: http://www.nejm.org/doi/full/10.1056/NEJMp1314965. Accessed May 11, 2014.