Expanded assay better identifies hereditary pancreatitis


Answers From the Lab

Hereditary pancreatitis carries a significantly increased risk for pancreatic cancer. In this test-specific episode of the "Answers From the Lab" podcast, Linda Hasadsri, M.D., Ph.D., and Huong Cabral, M.S., CGC, explain how Mayo Clinic Laboratories' expanded next-generation sequencing panel captures rarer as well as more common causes of the condition to better guide patient care.

"Anyone who has had repeat bouts of pancreatitis of unknown etiology would benefit from this testing because it's so valuable to be able to rule hereditary pancreatitis in or out," Dr. Hasadsri says.

The new panel adds five genes — selected in consultation with Mayo Clinic's trailblazing pancreatitis specialists — to the original panel's four genes. "There are certainly larger panels out there that also use next-generation sequencing, and even options like whole exome or whole genome sequencing. But bigger is not always better," Dr. Hasadsri says. "In addition to costing a lot more and potentially taking longer, you have the risk of it not actually yielding actionable information."

Results of the new test help identify people at increased risk for not only several types of hereditary pancreatitis but also diabetes and other pancreas-related complications.

"It's extremely important that individuals identified as having a pathogenic variant and a confirmed diagnosis undergo enhanced pancreatic cancer surveillance," Cabral says. "Knowing the genetic basis of pancreatitis also opens up opportunities to perhaps participate in clinical trials exploring novel therapies."

Listen to learn more about Mayo Clinic Laboratories' expanded hereditary pancreatitis gene panel.

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Barbara J. Toman

Barbara J. Toman is a Senior Communications Specialist at Mayo Clinic Laboratories. She is also the science writer for Mayo’s Neurosciences Update newsletter, which helps referring physicians to stay informed about Mayo’s treatment and research. Barbara has worked at Mayo Clinic since 2007. She enjoys international travel and cooking.