Diagnostic Accuracy of Cell-Free DNA Blood-Based Tests in Screening for Colorectal Cancer: A Systematic Review and Meta-analysis

Introduction: Population-based colorectal cancer (CRC) screenings have significantly reduced mortality rate. Recently, cell-free DNA (cfDNA) blood-based tests have emerged as a non-invasive diagnostic modality showing potential for higher compliance and earlier detection rate. This meta-analysis evaluates the diagnostic accuracy of cfDNA blood-based test for detecting CRC. Methods A systematic search was conducted across databases including MEDLINE, Embase, and Cochrane up to May 2024. Studies assessing cfDNA tests for CRC screening were included. Sensitivity, specificity, true positive (TP), and true negative (TN) values were extracted and pooled using a random effects model, with heterogeneity assessed via I² statistics. Results Sixteen studies, involving 15,591 participants, were included. Pooled sensitivity and specificity were 0.81 (95% CI: 0.75–0.86) and 0.93 (95% CI: 0.89–0.96), respectively. The area under the curve (AUC) for the summary receiver operating characteristic (SROC) indicated high diagnostic accuracy. Positive likelihood ratio (PLR) was 12.104 (95% CI: 7.044–20.798), negative likelihood ratio (NLR) was 0.201 (95% CI: 0.148–0.274), and diagnostic odds ratio (DOR) was 60.173 (95% CI: 30.268–119.622). Conclusion The cfDNA assay shows high diagnostic accuracy for CRC screening. Future studies are needed to compare its performance to colonoscopy and assess its cost-effectiveness in reducing CRC-related mortality.