Pancreatic Cancer Patients Have Genetic Changes
A leading medical genetics company presented findings that show 9 percent of patients with pancreatic cancer had genetic changes in DNA damage repair (DDR) genes that would make them eligible for inhibitor therapy or clinical treatment trials.
Importantly, the study of over 2,000 patients also found that 15 percent of patients with actionable genetic changes reported no family history of cancer, which underscores the limitations of using testing criteria based on reported family history.
The study by California-based Invitae Corporation was presented at the National Society of Genetic Counselors 39th Annual Conference on November 19, 2020.
"New therapeutics have recently become available to treat pancreatic cancer for patients with certain changes in genes such as BRCA1 and BRCA2. Yet despite the availability of these treatments and professional guidelines recommending testing, utilization is still lagging," said Robert Nussbaum, M.D., chief medical officer of Invitae and study author, in a related press statement.
"Pathogenic variants in these genes are associated with an increased risk of other cancers as well, such as breast, ovarian, and prostate cancer, which means that a failure to test patients with pancreatic cancer impacts not only their treatment but also the health of their families."
National Comprehensive Cancer Network (NCCN) guidelines recommend genetic counseling and germline genetic testing for everyone diagnosed with pancreatic cancer as well as their first degree relatives, approximately 3.5 million individuals in the USA.
In addition to evaluating the clinical relevance of genetic testing results, the study offered sponsored, no-charge testing to patients to evaluate the role of cost as a barrier to testing. Researchers found a small but significant increase (2%) in testing among African-American patients compared to typical rates among patients using health insurance, suggesting reducing cost may increase access to testing among this population.
Invitae Corporation is a leading medical genetics company, whose mission is to bring comprehensive genetic information into mainstream medicine to improve healthcare for billions of people. For more information, visit the company's website.
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