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Diagnostics Clinical care, Liquid biopsy, Oncology, Screening and monitoring

A Step Forward for CRC Screening

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.

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  1. J Dean et al. Poster presented at Digestive Disease Week; May 2, 2020. Poster #Sa1651.

About the Author

Michael Schubert

While obtaining degrees in biology from the University of Alberta and biochemistry from Penn State College of Medicine, I worked as a freelance science and medical writer. I was able to hone my skills in research, presentation and scientific writing by assembling grants and journal articles, speaking at international conferences, and consulting on topics ranging from medical education to comic book science. As much as I’ve enjoyed designing new bacteria and plausible superheroes, though, I’m more pleased than ever to be at Texere, using my writing and editing skills to create great content for a professional audience.

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