Cell-free DNA blood test ‘poised to have significant impact’ on CRC screening
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CHICAGO — A cell-free DNA blood-based test displayed 83% sensitivity for colorectal cancer detection and 90% specificity in an average-risk population, similar to the performance of current noninvasive screening options.
“Colorectal cancer screening is recommended for everyone in the United States,” Daniel C. Chung, MD, director of the High-Risk GI Cancer Clinic at Massachusetts General Hospital and professor at Harvard Medical School, told attendees at Digestive Disease Week. “But, despite the widespread availability of many screening options, there remain persistent and significant barriers, and unfortunately, screening rates remain suboptimal. In fact, only 59% of eligible individuals aged 45 and over are adherent, which is well below the acceptance target rate of 80%.”
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He added: “A blood-based screening test that can be completed as part of a routine health care visit presents a unique and attractive opportunity to increase adherence to colon cancer screening.”
To access the performance of a cell-free DNA blood-based CRC screening test in an average-risk population, Chung and colleagues conducted the ECLIPSE trial, enrolling adults aged 45 years and older from 265 U.S. clinical sites from October 2019 to September 2022.
Eligible participants were at average risk for CRC and presented for screening colonoscopy.
Researchers included 10,258 individuals in the clinical validation cohort, of whom 7,861 (mean age, 60 years; 54% women) met all eligibility criteria and were evaluated. All participants submitted a whole blood sample before colonoscopy.
The primary outcomes included CRC, advanced precancerous lesion (APL; including sessile serrated lesions > 10 mm and conventional advanced adenomas), non-APL, negative/no precancerous lesion or incomplete procedure. Other outcomes included CRC detection and specificity for the absence of CRC or APL compared with reference colonoscopy and APL sensitivity.
According to Chung, 65 participants had CRC, 1,116 had APLs, 2,166 had non-APLs and 4,514 had a negative colonoscopy. He also reported that the sensitivity endpoint was met, with a CRC detection sensitivity of 83% (95% CI, 72-90).
In addition, sensitivity for CRC stage I to III was 90% and 100% in stage IV, while specificity for the absence of CRC or APLs was 90% (95% CI, 89-90), thereby meeting the co-primary specificity endpoint. For negative/no precancerous lesions, the specificity was 90% (95% CI, 89-91), and for detection of APLs, the sensitivity was 13% (95% CI, 11-15).
“The cell-free DNA is the first blood-based test with performance that is comparable to current guideline recommended noninvasive colon cancer screening options,” Chung concluded. “Combined with improved adherence with blood based diagnostic strategies, this cell-free DNA test is poised to have a significant impact on screening in the population as a whole.”
Perspective
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Christine Lee, MD
The cell-free DNA blood-based test has many attractive features, namely that it is noninvasive, does not require self-collection and is more convenient than other modalities. If truly similar in performance (83% sensitivity for colon cancer detection and 90% specificity in an average-risk population as reported) to current noninvasive screening options, this can be a strong tool in the armamentarium for colon cancer prevention in those who have declined first-line screening tests.
These findings do indicate that the cell-free DNA blood test shows promise for a significant impact on CRC screening. However, further research is needed to demonstrate direct morbidity and mortality benefit and how to plan for timely colonoscopy after positive noninvasive test results.
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Chung D, et al. Abstract 913e: Clinical validation of a cell-free DNA blood-based test for colorectal cancer screening in an average risk population. Presented at: Digestive Disease Week; May 5-9, 2023; Chicago (hybrid meeting).
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