A blood-based test has acceptable accuracy for colorectal cancer detection but not for advanced precancerous lesions in an average-risk colorectal cancer screening population, according to a study published online June 2 in the Journal of the American Medical Association.
Aasma Shaukat, M.D., M.P.H., from the New York University Grossman School of Medicine in New York City, and colleagues conducted a prospective, multicenter, cross-sectional observational study enrolling asymptomatic adults aged 45 to 85 years. Individuals had an average risk for colorectal cancer and were willing to undergo a standard-of-care screening colonoscopy to examine the clinical performance of an investigational blood-based circulating tumor DNA test for colorectal cancer detection. The evaluable cohort included 27, 010 participants with a median age of 57.0 years. Participants completed a screening colonoscopy after blood collection.
The researchers found that the sensitivity was 79.2% for colorectal cancer, and specificity was 91.5% for advanced colorectal neoplasia. For advanced colorectal neoplasia, the negative and positive predictive values were 90.8% and 15.5%, respectively. All of the primary end points met the prespecified criteria for acceptance. For advanced precancerous lesions, sensitivity was 12.5%, which did not meet the prespecified acceptance criterion.
"In an average-risk colorectal cancer screening population, a blood-based test demonstrated acceptable accuracy for colorectal cancer detection, but detection of advanced precancerous lesions remains a challenge, and ongoing efforts are needed to improve test sensitivity, " the authors write.
Several authors disclosed ties to biopharmaceutical companies, including Freenome Holdings Inc., which funded the study.
More information: Aasma Shaukat et al, Clinical Validation of a Circulating Tumor DNA–Based Blood Test to Screen for Colorectal Cancer, JAMA (2025). DOI: 10.1001/jama.2025.7515 Jason A. Dominitz et al, Blood-Based Colorectal Cancer Screening, JAMA (2025). DOI: 10.1001/jama.2025.7557 Journal information: Journal of the American Medical Association
Jason A. Dominitz et al, Blood-Based Colorectal Cancer Screening, JAMA (2025). DOI: 10.1001/jama.2025.7557
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