| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
| Web: | mayocliniclabs.com |
|---|---|
| Email: | mcl@mayo.edu |
| Telephone: | 800-533-1710 |
| International: | +1 855-379-3115 |
| Values are valid only on day of printing | |
Precision in the pancreas: A new genetic test transforms hereditary pancreatitis diagnosis and care
Eye on Innovation
Mayo Clinic Laboratories’ newly expanded Hereditary Pancreatitis Gene Panel is transforming how clinicians diagnose and manage a complex, often elusive disease. Developed through close collaboration between lab scientists, genetic counselors, and clinicians, the test uses a whole exome sequencing backbone to analyze nine carefully selected genes with strong clinical relevance. This focused approach avoids ambiguous results while empowering early diagnosis, cancer risk assessment, and family testing. Built on a whole exome backbone with reflex capabilities, the panel represents a major step forward in precision medicine — offering clarity for patients and providers, and a platform for future genomic innovation.
A new genetic test developed at Mayo Clinic Laboratories is redefining how clinicians diagnose and manage hereditary pancreatitis — a complex, often misunderstood condition that can lead to chronic pain, repeated hospitalizations, and even pancreatic cancer. The new hereditary pancreatitis gene panel, which is launching soon, is the result of a deeply collaborative effort between Mayo Clinic Laboratories’ scientists, clinicians, and genetic counselors, serving as a prime example of innovation driven by patient need.
“This test is a perfect showcase of Mayo’s value,” says Charanjit (J.R.) Singh, M.B.A., senior product manager. “We brought together lab experts, physicians who see patients every day, and genetic counselors to build something that’s not only scientifically sound, but clinically meaningful.”
Pancreatitis is notoriously difficult to diagnose and manage. It can be acute, recurrent, or chronic. In many cases, the underlying cause remains elusive. For patients, this often means repeated ER visits, costly hospital stays, and a frustrating lack of answers.
“Pancreatitis is a complex disease with many potential causes — alcohol, smoking, autoimmune, toxins, and yes, genetics,” says Motaz Ashkar, M.B.B.S., M.S., a gastroenterologist and medical pancreatology specialist at Mayo Clinic. “When we can’t find a clear cause, genetic testing becomes key.”
The new panel expands Mayo’s previous test from four genes to nine, incorporating the latest research and clinical insight.
“We were one of the first labs to offer genetic testing for pancreatitis over two decades ago,” says Linda Hasadsri, M.D., Ph.D., a laboratory consultant and co-developer of the test. “This new version builds on that legacy with more precision, more power, and more clinical relevance.”
Unlike many commercial panels that include dozens or even hundreds of genes, Mayo’s test is intentionally focused. “There’s a mindset in genetic testing that bigger is better,” says Dr. Hasadsri. “But if you include genes with weak or unproven associations, you risk giving patients results that are confusing or meaningless.”
To avoid that, the team worked closely with clinicians like Dr. Ashkar to determine which genes truly matter.
“We didn’t want to include anything that wouldn’t help us manage the patient,” he says. “We focused on genes with strong evidence and actionable outcomes.”
The result is a panel that includes well-established genes like PRSS1, SPINK1, CFTR, and CTRC, as well as newer additions like CPA1, CASR, and CLDN2, which are increasingly recognized for their role in pancreatitis and pancreatic cancer risk.
The test is built on a whole exome sequencing backbone, allowing for comprehensive analysis of coding regions across the genome. But that approach comes with challenges, especially when it comes to tricky genes like PRSS1.
“PRSS1 is the most common cause of hereditary pancreatitis worldwide, especially in children,” says Dr. Hasadsri. “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 this, Mayo developed a custom assay with multiple supplemental methods to help confirm results and avoid misdiagnosis. “We’ve had providers send us samples from other labs that just didn’t match the clinical picture,” Dr. Hasadsri adds. “When we retested, we found the original result was wrong. That’s why our layered approach matters.”
The lab also built in reflex testing capabilities — meaning if a provider orders the panel and the result is inconclusive, the lab can automatically perform additional testing without requiring a new sample or billing the patient again.
The clinical impact of the test is significant. A positive result can help explain a patient’s symptoms, guide treatment decisions, and even inform cancer surveillance strategies. “If someone has PRSS1 pathogenic mutation, their risk of pancreatic cancer is higher,” says Dr. Ashkar. “We can start monitoring them earlier and more frequently.”
It also opens the door to family testing. “If a patient tests positive, we can screen their relatives — even those who are asymptomatic,” says Dr. Hasadsri. “That allows for early intervention and lifestyle changes that could prevent disease progression.” Even a negative result can be meaningful. “It helps rule out hereditary causes and can reduce unnecessary testing or anxiety,” Dr. Hasadsri adds. “It’s about giving patients and providers clarity.”
While the current panel focuses on single-gene variants, the team is already thinking ahead. “There isn’t a polygenic risk score test for pancreatitis, yet, or at least not that I’m aware of,” says Dr. Hasadsri. “But that’s likely coming given the often multifactorial nature of this disease. We’re also exploring whole genome sequencing, transcriptomics, and epigenetics to provide future insights.”
Because the test is built on an exome backbone, it’s already equipped for reflex to exome — meaning if the panel doesn’t yield answers, the lab can unlock the rest of the exome data to search for rare or novel variants without needing a new sample.
“This panel is a gateway,” says Singh. “It’s not just about diagnosing pancreatitis. It’s about building a platform for precision medicine — one that evolves with the science and always puts the patient first.”
