Multi-Target Stool DNA and the Fecal Immunochemical Test: A Systematic Review and Meta-Analysis on Test Performances

Colorectal cancer remains a leading cause of cancer death in the U.S. Since the latest U.S. Preventive Services Task Force update, additional studies examining the performance of the multi-target stool DNA and the fecal immunochemical test have been published. This analysis builds upon the U.S. Preventive Serices Task Force analysis by including recent studies on test performance.

PubMed and Embase were searched for manuscripts published between December 4, 2019, and July 9, 2024, using colonoscopy as the reference standard. Double-blinded reviewers screened articles. Primary outcomes were test sensitivity and specificity for colorectal cancer, advanced neoplasia, advanced precancerous lesions, and nonadvanced precancerous lesions.

Of 4,320 citations screened, 41 new studies were identified. After combining with 14 studies from the previous U.S. Preventive Services Task Force evidence review, 55 studies were analyzed. Forty-one studies reported the performance of fecal immunochemical test alone, 10 of multi-target stool DNA alone, and 4 reported fecal immunochemical test and multi-target stool DNA. Of 14 studies evaluating multi-target stool DNA, 2 considered the next-generation multi-target stool DNA test's colorectal cancer sensitivity was 93.6% (95% CI=89.0, 97.1) for next-generation multi-target stool DNA and 71.6% (95% CI=64.3, 77.9) for fecal immunochemical test. Specificity was 91.6% (95% CI=89.2, 93.7) for next-generation multi-target stool DNA and 96.3% (95% CI=95.4, 97.0) for fecal immunochemical test. Advanced precancerous lesion sensitivity was 22.2% (95% CI=20.6, 24.0) for fecal immunochemical test and 45.6% (95% CI=40.8, 50.4) for next-generation multi-target stool DNA.

This meta-analysis revealed that multi-target stool DNA has high sensitivity for detecting colorectal cancer and is more than twice as sensitive than fecal immunochemical test for detecting advanced precancerous lesions. The lifetime benefit and effectiveness of these tests should be further analyzed.