Ultra-low-pass whole-genome sequencing of bile cfDNA in patients with biliary strictures.
A new genetic test of bile samples collected during routine procedures detected bile duct and pancreatic cancers an average of 38 days earlier than current methods.
Ultra-low-pass whole-genome sequencing of bile collected at routine ERCP detected biliary malignancy earlier than conventional cytology by 38 days on average and over 100 days in a subset of patients, with 96% specificity in benign cases and a CNA-based CCA/PDAC discriminator with 0.864 accuracy. This scalable, cost-effective approach could complement ERCP workup for biliary malignancy, addressing a major clinical diagnostic challenge.
What the study was
- Study design
- Prospective exploratory cohort; bile ULP-WGS with ichorCNA tumour-fraction analysis; 50-region CNA classifier; n=95.
- Population
- 95 patients with biliary strictures under radiological suspicion of malignancy (26 malignant, 69 indeterminate at first ERCP).
- Sample size
- 95
- Category
- Early Detection
- Maturity
- Exploratory
- Journal
- eGastroenterology
Why it surfaced
Novel bile ULP-WGS detects biliary malignancy 100+ days before conventional diagnosis with high specificity; CCA/PDAC discriminator clinically actionable. Major unmet need: indeterminate biliary strictures.
A plain-language summary of published research — not medical advice. Talk to a clinician about your own care.