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Genetic testing has become an important element in oncology patient care. The University of Maryland Cancer Network makes genetic testing for cancer a priority so that physicians can incorporate genetic data into treatment plans and screening. In particular, there has been significant growth in the knowledge of genetic impact for pancreatic cancer screening and treatment within the last few years.

"In recent years, more targeted therapies have become available that are specifically indicated for people who have certain pathogenic genetic variants related to pancreatic cancer," said Rachel Gore, ScM, CGC, genetic counselor for MSC working with the NIH, and collaborator with the University of Maryland Medical System. "Having this information quickly, in a timely manner could open up some of these additional options that would not otherwise be available." 

Who Should Undergo Testing?

"We believe about 5-10% of pancreatic cancer cases are hereditary," said Katharine Bisordi, MS, MGC, CGC, instructor, department of pediatrics, division of genetics, University of Maryland School of Medicine, and who sees patients at several UM Cancer Network member facilities. "And possibly even more when we're selecting those who have a family history of pancreatic cancer as well."

The National Comprehensive Cancer Network (NCCN) set forth these guidelines for who should be tested:

1) All individuals with a personal history of exocrine pancreatic cancer.

In this case, experts recommend completing genetic testing as soon as possible post-diagnosis because the results could help guide potential targeted therapies. For example, the presence of a pathogenic variant in the BRCA1 or BRCA2 genes can determine eligibility for PARP inhibitors.

"If there is a pathogenic variant identified on testing, this information could do a few things for the patient and their treating team," said Bisordi. "It could help guide potential treatments and targeted therapies. It could provide an explanation as to why the pancreatic cancer developed, which can be psycho-socially and emotionally important to a patient to know that it was something genetic and not in their control. It can identify other potential cancer risks and screening suggestions for the patient. And it can provide more accurate risk information for family members."

2) Individuals who are unaffected but have a family history of exocrine pancreatic cancer in a first-degree relative.

Genetic testing based on a family history of pancreatic cancer can be done at any time the family history is known (though testing affected individuals is more informative than testing unaffected individuals). This can identify unaffected individuals who have an increased genetic predisposition for developing pancreatic cancer and can therefore consider pancreatic cancer screening. Individuals now have an advantage via clinical screenings—and the data supports it.

"A recent large study revealed that 75-90% of pancreatic cancers detected early by screening were able to be removed," said Gore. "This number is significantly higher than resectability rates for diagnoses made after symptom manifestation. Resectable pancreatic cancers are associated with much higher survival rates."

Screening Recommendations

NCCN suggests screening in the form of contrast-enhanced MRI/MRCP and/or EUS annually, though screening intervals can be shortened based on clinical judgment and presence of concerning abnormalities found in previous imaging. The timing at which to start screening is dependent on the gene involved and family history of pancreatic cancer.

"There are certain genes that have a higher risk of pancreatic cancer that would warrant screening beginning at an earlier age, as early as age 30,” said Bisordi. "And there are other genes that have a more moderate increase in risk. In that case, it's not just having the gene mutation, but you also would need a family history of one or more first- or second-degree relatives with pancreatic cancer to really consider starting any kind of screening beginning at age 50. And all of that can be modified based on family history."

Re-Testing Recommendations

If a patient was tested in the past, they may want to consider being tested again. “If they were tested a few years ago, it's likely that only the BRCA genes were tested," Gore said. "And then we would definitely want to consider additional testing with a multigene panel that includes the more newly identified pancreatic cancer, susceptibility genes. If somebody had comprehensive testing, we don't recommend testing them again," said Gore.

The Role of a Genetic Counselor

Genetic testing and recommendations take an individualized approach. Providers order testing based on a thorough evaluation of a patient's personal medical and family history.

And physicians have a great resource at their disposal. "We're available to speak with providers. We're available to meet with patients (even through telemedicine)," said Gore. "And we're specifically trained in the area of genetics, so we are not only staying abreast of all of the evolving changes in the medical area but can also be in communication with patients to help facilitate decision-making and adaptation to results that can be complicated and upsetting for some people."

Learn more about genetic counseling through the UM Cancer Network.

Tate Cancer Center 4th Annual Minimally Invasive Cancer Care Symposium

Join us for an informational symposium as specialists in the field of cancer care present the latest techniques and services available to patients. Rachel Gore will be among the many experts and will present Pancreatic Cancer Screening: New Frontiers for Early Detection at the Tate Cancer Center 4th Annual Minimally Invasive Cancer Care Symposium on Thursday, April 28, 2022.