- A single noninvasive blood test shows high sensitivity, specificity, predicted tissue of origin in the detection of multiple gastrointestinal (GI) cancers.
Why this matters
- A single blood test can be a practical and convenient method of detecting cancers and may facilitate diagnostic workups.
- Prospective, multi-center, observational, case-control Circulating Cell-free Genome Atlas study of 15,254 participants with and without cancer.
- An assay was developed using targeted methylation sequencing of plasma cell-free DNA.
- Funding: GRAIL, Inc.
- The assay had a specificity of 99.8% in the training set and 99.3% in the validation set.
- The sensitivity and accuracy of the predicted tissue of origin across all GI cancers was 82% and 92%, respectively:
- Upper GI tract: 85% and 87%, respectively.
- Pancreas/gallbladder/extrahepatic bile duct: 82% and 92%, respectively.
- Liver/intrahepatic bile duct: 86% and 78%, respectively.
- Colon/rectum: 79% and 98%, respectively.
- Observational design.
Lead Investigator Wolpin BM, MD, MPH, noted: “To pursue early detection at a population scale while minimizing harm and cost, several features are important, including a low false-positive rate, a high detection rate, the ability to localize the site of origin of the malignancy, and limiting overdiagnosis”.