Cell-free DNA for Colorectal Cancer Screening

This editorial discusses a study by Chung et al. on the use of a blood based cell free DNA (cfDNA) assay known as the Shield test for colorectal cancer screening. The test integrates three molecular features: DNA methylation patterns, fragmentation profiles, and somatic mutations in APC and KRAS genes. In a cohort of 7861 average risk individuals, the test showed 83% sensitivity for colorectal cancer and 90% specificity for advanced neoplasia. However, sensitivity for precancerous lesions was low (13%). The editorial highlights the promise of cfDNA screening for broader uptake due to its noninvasive nature, while noting limitations compared to colonoscopy and fecal tests. It also raises questions about test specificity in older populations and the potential for future risk stratification based on cfDNA profiles.

This editorial discusses a study by Chung et al. on the use of a blood based cell free DNA (cfDNA) assay known as the Shield test for colorectal cancer screening. The test integrates three molecular features: DNA methylation patterns, fragmentation profiles, and somatic mutations in APC and KRAS genes. In a cohort of 7861 average risk individuals, the test showed 83% sensitivity for colorectal cancer and 90% specificity for advanced neoplasia. However, sensitivity for precancerous lesions was low (13%). The editorial highlights the promise of cfDNA screening for broader uptake due to its noninvasive nature, while noting limitations compared to colonoscopy and fecal tests. It also raises questions about test specificity in older populations and the potential for future risk stratification based on cfDNA profiles.