Colorectal cancer (CRC) screening is a field plagued by noncompliance, with many people opting to forgo screening rather than submit to invasive or “embarrassing” procedures, such as colonoscopy or fecal occult blood testing. Because previous research has revealed a patient preference for noninvasive blood-based screening, researchers tested the merits of an integrated genomic and epigenomic blood test for CRC (1).
The multimodal test uses circulating tumor DNA (ctDNA) to detect somatic mutations, aberrant methylation signals, and altered nucleosomal positioning and fragmentomics, all of which may be indicative of cancer. When applied to self-declared cancer-free controls, the test showed 89 percent specificity – but this improved to 94 percent specificity when using colonoscopy-screened negative controls, suggesting that previous false-positive results might have been due to undiagnosed disease in individuals who had not undergone CRC screening. Overall, combined genomic and epigenomic ctDNA analysis for CRC shows promise for sensitive, specific, noninvasive screening.
References
J Dean et al. Poster presented at Digestive Disease Week; May 2, 2020. Poster #Sa1651.