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Cell-Free DNA Blood Test Shows Strong Performance in Detecting Early-Stage CRC
TOPLINE:
A novel, blood-based test developed using fragmentomic features of cell-free DNA (cfDNA) detects colorectal cancer (CRC) with a 90.4% sensitivity and shows consistent performance across stages and tumor locations.
METHODOLOGY:
- Researchers conducted a prospective case-control study to develop and validate a noninvasive cfDNA-based screening test for CRC.
- Adults aged 40-89 years with CRC or advanced adenomas were enrolled at a tertiary center in South Korea between 2021 and 2024.
- Blood samples were drawn after colonoscopy, but prior to treatment, in patients with CRC, advanced adenomas, and asymptomatic controls with normal colonoscopy results.
- A model was trained on fragmentonic features derived from whole genome sequencing of cfDNA from 1250 participants and validated for its diagnostic performance in the remaining 427 participants, including all with advanced adenomas.
- The primary endpoint was the sensitivity of the cfDNA test for detecting CRC. The area under the receiver operating characteristic curve (AUROC) was also calculated.
TAKEAWAY:
- The cfDNA test detected CRC with 90.4% sensitivity and an AUROC of 0.978.
- Sensitivity by CRC stage was 84.2% for stage I, 85.0% for stage II, 94.4% for stage III, 100% for stage IV.
- Advanced adenomas were detected with 58.3% sensitivity and an AUROC of 0.862.
- Among individuals with normal colonoscopy findings, the test was correctly negative 94.7% of the time.
- Diagnostic sensitivities were consistent between left- and right-sided CRC tumors, among participants aged < 60 years and ≥ 60 years, and across left- and right-sided advanced adenomas.
IN PRACTICE:
"This highlights the potential clinical utility of the test in identifying candidates for minimally invasive therapeutic approaches tool for CRC," the authors wrote. "Notably, the high sensitivity observed for early-stage CRC and the favorable sensitivity for [advanced adenoma] suggest that this cfDNA test may offer benefits not only in diagnosis but also in prognosis and ultimately in CRC prevention."
SOURCE:
This study was led by Seung Wook Hong, MD, Asan Medical Center in Seoul, South Korea. It was published online on November 19, 2025, in the American Journal of Gastroenterology.
LIMITATIONS:
The case-control design introduced spectrum bias by comparing clearly defined CRC and advanced adenomas cases with individuals who had normal colonoscopy results. The CRC prevalence of 17% to 18% was higher than that observed in true screening populations, limiting generalizability. The exclusively Korean cohort limited extrapolation to non-Asian populations.
DISCLOSURES:
The study received support from GC Genome, Yongin, South Korea. The authors reported no conflicts of interest.
This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.
A version of this article first appeared on Medscape.com.
TOPLINE:
A novel, blood-based test developed using fragmentomic features of cell-free DNA (cfDNA) detects colorectal cancer (CRC) with a 90.4% sensitivity and shows consistent performance across stages and tumor locations.
METHODOLOGY:
- Researchers conducted a prospective case-control study to develop and validate a noninvasive cfDNA-based screening test for CRC.
- Adults aged 40-89 years with CRC or advanced adenomas were enrolled at a tertiary center in South Korea between 2021 and 2024.
- Blood samples were drawn after colonoscopy, but prior to treatment, in patients with CRC, advanced adenomas, and asymptomatic controls with normal colonoscopy results.
- A model was trained on fragmentonic features derived from whole genome sequencing of cfDNA from 1250 participants and validated for its diagnostic performance in the remaining 427 participants, including all with advanced adenomas.
- The primary endpoint was the sensitivity of the cfDNA test for detecting CRC. The area under the receiver operating characteristic curve (AUROC) was also calculated.
TAKEAWAY:
- The cfDNA test detected CRC with 90.4% sensitivity and an AUROC of 0.978.
- Sensitivity by CRC stage was 84.2% for stage I, 85.0% for stage II, 94.4% for stage III, 100% for stage IV.
- Advanced adenomas were detected with 58.3% sensitivity and an AUROC of 0.862.
- Among individuals with normal colonoscopy findings, the test was correctly negative 94.7% of the time.
- Diagnostic sensitivities were consistent between left- and right-sided CRC tumors, among participants aged < 60 years and ≥ 60 years, and across left- and right-sided advanced adenomas.
IN PRACTICE:
"This highlights the potential clinical utility of the test in identifying candidates for minimally invasive therapeutic approaches tool for CRC," the authors wrote. "Notably, the high sensitivity observed for early-stage CRC and the favorable sensitivity for [advanced adenoma] suggest that this cfDNA test may offer benefits not only in diagnosis but also in prognosis and ultimately in CRC prevention."
SOURCE:
This study was led by Seung Wook Hong, MD, Asan Medical Center in Seoul, South Korea. It was published online on November 19, 2025, in the American Journal of Gastroenterology.
LIMITATIONS:
The case-control design introduced spectrum bias by comparing clearly defined CRC and advanced adenomas cases with individuals who had normal colonoscopy results. The CRC prevalence of 17% to 18% was higher than that observed in true screening populations, limiting generalizability. The exclusively Korean cohort limited extrapolation to non-Asian populations.
DISCLOSURES:
The study received support from GC Genome, Yongin, South Korea. The authors reported no conflicts of interest.
This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.
A version of this article first appeared on Medscape.com.
TOPLINE:
A novel, blood-based test developed using fragmentomic features of cell-free DNA (cfDNA) detects colorectal cancer (CRC) with a 90.4% sensitivity and shows consistent performance across stages and tumor locations.
METHODOLOGY:
- Researchers conducted a prospective case-control study to develop and validate a noninvasive cfDNA-based screening test for CRC.
- Adults aged 40-89 years with CRC or advanced adenomas were enrolled at a tertiary center in South Korea between 2021 and 2024.
- Blood samples were drawn after colonoscopy, but prior to treatment, in patients with CRC, advanced adenomas, and asymptomatic controls with normal colonoscopy results.
- A model was trained on fragmentonic features derived from whole genome sequencing of cfDNA from 1250 participants and validated for its diagnostic performance in the remaining 427 participants, including all with advanced adenomas.
- The primary endpoint was the sensitivity of the cfDNA test for detecting CRC. The area under the receiver operating characteristic curve (AUROC) was also calculated.
TAKEAWAY:
- The cfDNA test detected CRC with 90.4% sensitivity and an AUROC of 0.978.
- Sensitivity by CRC stage was 84.2% for stage I, 85.0% for stage II, 94.4% for stage III, 100% for stage IV.
- Advanced adenomas were detected with 58.3% sensitivity and an AUROC of 0.862.
- Among individuals with normal colonoscopy findings, the test was correctly negative 94.7% of the time.
- Diagnostic sensitivities were consistent between left- and right-sided CRC tumors, among participants aged < 60 years and ≥ 60 years, and across left- and right-sided advanced adenomas.
IN PRACTICE:
"This highlights the potential clinical utility of the test in identifying candidates for minimally invasive therapeutic approaches tool for CRC," the authors wrote. "Notably, the high sensitivity observed for early-stage CRC and the favorable sensitivity for [advanced adenoma] suggest that this cfDNA test may offer benefits not only in diagnosis but also in prognosis and ultimately in CRC prevention."
SOURCE:
This study was led by Seung Wook Hong, MD, Asan Medical Center in Seoul, South Korea. It was published online on November 19, 2025, in the American Journal of Gastroenterology.
LIMITATIONS:
The case-control design introduced spectrum bias by comparing clearly defined CRC and advanced adenomas cases with individuals who had normal colonoscopy results. The CRC prevalence of 17% to 18% was higher than that observed in true screening populations, limiting generalizability. The exclusively Korean cohort limited extrapolation to non-Asian populations.
DISCLOSURES:
The study received support from GC Genome, Yongin, South Korea. The authors reported no conflicts of interest.
This article was created using several editorial tools, including AI, as part of the process. Human editors reviewed this content before publication.
A version of this article first appeared on Medscape.com.
Cell-Free DNA Blood Test Shows Strong Performance in Detecting Early-Stage CRC
Cell-Free DNA Blood Test Shows Strong Performance in Detecting Early-Stage CRC