JAMA

Circulating tumor DNA blood test for colorectal cancer: How accurate is it?

June 4, 2025

An investigational blood-based circulating tumor DNA test showed acceptable accuracy for cancer detection in patients at average risk for colorectal cancer, according to this diagnostic accuracy study. While the primary trial endpoints were met, the secondary endpoint—sensitivity for advanced precancerous lesions—didn’t meet the prespecified acceptance criterion.

Study. This prospective, multi-center, population-based, observational study (NCT04369053) included 48,995 patients (age, 45-85 years) at average colorectal cancer risk; 27,010 participants were evaluable (median age, 57 years; women, 55.8%). All patients underwent screening colonoscopy after blood sample collection. Histopathology served as the reference. Primary endpoints: sensitivity for colorectal cancer, specificity for advanced colorectal neoplasia (colorectal cancer + advanced precancerous lesions), positive/negative predictive values for advanced colorectal neoplasia. Secondary endpoint: sensitivity for advanced precancerous lesions.

Results. Colorectal cancer sensitivity: 79.2%; advanced colorectal neoplasia specificity: 91.5%. Advanced colorectal neoplasia negative predictive value: 90.8%; positive predictive value:15.5%. Primary trial endpoints met prespecified acceptance criteria. However, the secondary endpoint, sensitivity for advanced precancerous lesions, was 12.5%, which didn’t meet the prespecified acceptance criterion.

Source:

Shaukat A; PREEMPT CRC Investigators; et al. (2025, June 2). JAMA. Clinical Validation of a Circulating Tumor DNA-Based Blood Test to Screen for Colorectal Cancer. https://pubmed.ncbi.nlm.nih.gov/40455622/