In the ECLIPSE study—reported in The New England Journal of Medicine—Chung et al found that a cell-free DNA (cfDNA) blood-based test had high sensitivity for colorectal cancer and high specificity for advanced neoplasia in colorectal cancer screening compared with colonoscopy.
Study Details
The U.S. multicenter study included 7,861 individuals eligible for colorectal cancer screening enrolled between October 2019 and September 2022 who had results for colonoscopy and cfDNA test screening. Eligible participants were aged 45 to 84 years and at average risk for colorectal cancer. The co-primary outcome measures were cfDNA test sensitivity for colorectal cancer and specificity for advanced neoplasia (colorectal cancer or advanced precancerous lesions) compared with screening colonoscopy. The secondary outcome measure was sensitivity in detecting advanced precancerous lesions.
cfDNA Test Performance
Among the 7,861 participants, colonoscopy showed colorectal cancer in 65; advanced precancerous lesions in 1,116; nonadvanced adenoma in 2,166; and negative results for colorectal neoplasia in 4,514.
A total of 83.1% of participants with colonoscopy-detected colorectal cancer had a positive cfDNA test and 16.9% had a negative test, yielding a cfDNA sensitivity for detection of colorectal cancer of 83.1% (95% confidence interval [CI] = 72.2%–90.3%). Sensitivity of the test was 87.5% (95% CI = 75.3%–94.1%) for stage I, II, or III colorectal cancer and 13.2% (95% CI = 11.3%–15.3%) for advanced precancerous lesions.
A total of 89.6% of participants without colonoscopy-detected advanced colorectal neoplasia had a negative cfDNA test and 10.4% had a positive cfDNA test, yielding a specificity of the cfDNA test for advanced neoplasia of 89.6% (95% CI = 88.8%–90.3%).
The specificity of the test was 89.9% (95% CI = 89.0%–90.7%) for negative results for colorectal neoplasia on colonoscopy.
The investigators concluded, “In an average-risk screening population, this cfDNA blood-based test had 83% sensitivity for colorectal cancer, 90% specificity for advanced neoplasia, and 13% sensitivity for advanced precancerous lesions.”
William M. Grady, MD, of the Divisions of Public Health Sciences, Translational Science and Therapeutics, Fred Hutchinson Cancer Center, Seattle, is the corresponding author for The New England Journal of Medicine article.
Disclosure: The study was funded by Guardant Health. For full disclosures of the study authors, visit nejm.org.
