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A Blood Test for Cancer DNA: An Eventual New Option for Colorectal Cancer Screening?
One newer — and currently available — method for colorectal cancer screening is a stool test that includes multitarget assays for neoplasia-related DNA and fecal hemoglobin; a recent study provides data on the “next-generation” version of that test (NEJM JW Gen Med Apr 1 2024 and N Engl J Med 2024; 390:984). But DNA from colorectal cancers and precancerous lesions also can be detected in blood.
In an industry-funded study, researchers examined the performance of a cell-free DNA blood test (which is not yet approved as a screening test by the U.S. FDA) in 7861 people who also were undergoing colonoscopy. The test yielded the following results:
- It detected 88% of stage I, II, or III (not yet metastatic) colorectal cancers.
- It detected 13% of advanced precancerous lesions.
- It was falsely positive in 10% of people who did not have colorectal cancer or advanced precancerous lesions.
Comment
This cell-free DNA blood test was less accurate than the multitarget stool DNA test (which also includes an assay for fecal hemoglobin). However, the blood test only requires venipuncture and thus might attract some people who don't agree to initial screening with colonoscopy or stool testing. But several questions remain, both for this blood test and for stool-based tests: (1) How often will patients with positive test results follow through with colonoscopy? (2) Assuming that test-positive patients do receive appropriate follow-up, how do final outcomes compare with first-line screening colonoscopy? (3) As the absolute number of false-positive results outweighs true-positives substantially, would the test ultimately be cost-effective?
Citation(s)
Author:
Chung DC et al.
Title:
A cell-free DNA blood-based test for colorectal cancer screening.
Source:
N Engl J Med
2024
Mar
14; [e-pub].
(Abstract/FREE Full Text)
Empfohlen von
Anthony L. Komaroff, MD