At UPMC, a molecular test is already helping identify patients with a rare type of cancer that affects the bile ducts – the tubes connecting the liver, gall bladder and the intestines. For patients with early stages of this cancer, added diagnostic clarity can determine eligibility for liver transplantation, a potentially life‑saving option when the disease is identified early.
BiliSeq, developed by clinician-researchers at UPMC Hillman Cancer Center and the University of Pittsburgh School of Medicine, detects cancer-associated genetic mutations in bile duct cancer. The test works even when tumor cells are sparse, damaged or indistinguishable from inflammation under the microscope, addressing a major limitation of standard biopsy and cytology testing in bile duct tumors, which are often small, difficult to reach and surrounded by inflammation. BiliSeq builds on UPMC and Pitt’s longstanding expertise in genetic tests for cancers.
“This diagnostic test has become invaluable in our novel transplant program for patients with early-stage bile duct cancer,” said Adam Slivka, M.D., Ph.D., professor of medicine in the Division of Gastroenterology, Hepatology and Nutrition at Pitt. “Patients whose cancers are diagnosed using BiliSeq may be eligible for the UPMC Living-Donor Liver Transplant Program which can significantly shorten the wait time associated with deceased-donor liver transplants. Time is always critical when dealing with lethal cancers.”
To understand how well the test performed in everyday clinical practice, researchers evaluated BiliSeq over six years in more than 2,000 patients across the United States, analyzing nearly 3,000 bile duct specimens in a study published in Gastroenterology, the flagship journal of the American Gastroenterological Association. The results show that BiliSeq approximately doubled the detection of bile duct cancers, compared to pathology alone. More importantly, combining BiliSeq with pathology assessments increased detection to nearly 90% while rarely misclassifying benign disease as malignant.
One of the most important advantages of BiliSeq is that it provides more than a simple yes-or-no answer about whether cancer is present. In about one out of every five patients, the test identified treatment-relevant information, leading doctors to change how care was managed in nearly one-third of those cases.
“BiliSeq isn’t just about early diagnosis — it also identifies molecular targets that can help guide treatment,” said study co-author Aatur Singhi, M.D., Ph.D, associate professor of pathology at Pitt and Director of the UPMC Developmental Laboratory. “BiliSeq identifies targets that can guide treatment. That’s where this really becomes personalized medicine.”
“That’s where this really becomes personalized medicine,” said Slivka. The authors note, however, that the clinical benefit of matching patients to specific targeted therapies will need to be evaluated in randomized clinical trials.
BiliSeq is not a screening test for the general population. Instead, it is used for patients who had narrowing or obstruction of bile ducts and need a clearer diagnosis. In these cases, getting more definitive answers earlier can reduce the need for repeat invasive procedures and shorten the time it takes to reach appropriate treatment decisions.
“We’re not all the way there yet,” said Slivka, “but we’re getting close — and for patients, that can mean less testing, less waiting, and more options.”
Researchers are also studying how the test performs in patients most likely to be missed by standard diagnostic methods, including those with chronic inflammatory disease and other high-risk features.
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