Researchers developed a methylation-based circulating free DNA (cfDNA) early multi-cancer detection blood test that accurately and simultaneously detected various cancers, including gastrointestinal (GI) cancers. The research was presented at the Gastrointestinal Cancers Symposium.
The prospective, multicenter, observational, case-control Circulating Cell-free Genome Atlas study included 654 patients with more than 20 types of cancer at all stages, as well as 273 individuals without cancer. Plasma cfDNA was subjected to a cross-validated targeted methylation sequencing assay. Methylation fragments were combined across targeted genomic regions and assigned a probability of cancer and a predicted tissue of origin.
GI cancer classes included upper GI (esophagus/stomach; n=67), pancreas/gallbladder/extrahepatic bile duct (n=95), liver/intrahepatic bile duct (n=29), and colon/rectum (n=121).
Test demonstrates high sensitivity for detecting GI cancers
At a specificity of >99%, the blood-based assay demonstrated overall sensitivity of 82% (95% CI, 77-86) for all GI cancer types. Researchers reported sensitivity of 72% for stage I-III disease and 96% for stage IV disease.
The assay demonstrated predicted tissue of origin accuracy of 87% for esophageal/stomach cancers, 92% for pancreatic/gallbladder/extrahepatic bile duct cancers, 78% for liver/intrahepatic bile duct cancers, and 98% for colon/rectal cancers.
“Detection of multiple GI cancers from a single non-invasive blood test could be a practical method for detecting GI and other cancers, and may facilitate diagnostic work-ups,” the authors concluded.