The new test expands from four genes to nine while maintaining clinical focus, addressing diagnostic challenges with PRSS1 testing accuracy.
Mayo Clinic Laboratories has developed a new hereditary pancreatitis gene panel that expands testing capabilities while maintaining clinical focus on well-established genetic associations.
The panel (Mayo ID: PANGP) increases coverage from four genes to nine, incorporating recent research findings while avoiding the broader, less targeted approach used by many commercial genetic testing companies.
“There’s a mindset in genetic testing that bigger is better,” says Linda Hasadsri, MD, PhD, a clinical molecular geneticist at Mayo Clinic, in a release. “But if you include genes with weak or unproven associations, you risk giving patients results that are confusing or meaningless.”
Addressing PRSS1 Testing Challenges
The panel includes established genes such as PRSS1, SPINK1, CFTR, and CTRC, along with newer additions including CPA1, CASR, and CLDN2 that are increasingly recognized for their role in pancreatitis and pancreatic cancer risk.
A key focus of the new test addresses accuracy issues with PRSS1 testing, which represents the most common cause of hereditary pancreatitis worldwide, particularly in pediatric cases.
“PRSS1 is the most common cause of hereditary pancreatitis worldwide, especially in children,” says Hasadsri in a release. “But it’s notoriously difficult to test accurately. We’ve seen a lot of false positives and false negatives from other labs over the years.”
To address these challenges, Mayo developed a custom assay with multiple supplemental methods to confirm results and reduce misdiagnosis. The laboratory also incorporated reflex testing capabilities, allowing automatic additional testing when initial results are inconclusive without requiring new samples or additional patient billing.
Clinical Applications and Cancer Surveillance
The test is built on whole exome sequencing technology, enabling analysis of coding regions across the genome. Positive results can guide treatment decisions and inform cancer surveillance strategies.
“If someone has PRSS1 pathogenic mutation, their risk of pancreatic cancer is higher,” says Motaz Ashkar, MBBS, a gastroenterologist in the pancreatic clinic at Mayo Clinic, in a release. “We can start monitoring them earlier and more frequently.”
The testing also enables family screening for asymptomatic relatives when patients test positive, allowing for early intervention and lifestyle modifications that could prevent disease progression.
Pancreatitis affects approximately 5.9 million people globally, with 2.75 million new cases diagnosed in 2021, according to the Institute for Health Metrics and Evaluation. The condition can lead to chronic pain, repeated hospitalizations, and serious complications including diabetes, kidney failure, and pancreatic cancer.
“Pancreatitis is a complex disease with many potential causes—alcohol, smoking, autoimmune, toxins, and yes, genetics,” says Ashkar in a release. “When we can’t find a clear cause, genetic testing becomes key.”
The development team is exploring future applications including polygenic risk score testing for pancreatitis, which would assess multiple risk factors to calculate individual disease risk.
ID 124083801 © Starast | Dreamstime.com\
