A novel, blood-based test developed using fragmentomic features of cell-free DNA (cfDNA) detects colorectal cancer (CRC) with a 90.4% sensitivity and shows consistent performance across stages and tumor locations.
METHODOLOGY:
- Researchers conducted a prospective case-control study to develop and validate a noninvasive cfDNA-based screening test for CRC.
- Adults aged 40-89 years with CRC or advanced adenomas were enrolled at a tertiary center in South Korea between 2021 and 2024.
- Blood samples were drawn after colonoscopy, but prior to treatment, in patients with CRC, advanced adenomas, and asymptomatic controls with normal colonoscopy results.
- A model was trained on fragmentomic features derived from whole genome sequencing of cfDNA from 1250 participants and validated for its diagnostic performance in the remaining 427 participants, including all with advanced adenomas.
- The primary endpoint was the sensitivity of the cfDNA test for detecting CRC. The area under the receiver operating characteristic curve (AUROC) was also calculated.