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SAN FRANCISCO, Nov. 19, 2020 /PRNewswire/ — Invitae (NYSE: NVTA), a leading medical genetics company, today presented study findings that show nine percent of patients with pancreatic cancer had genetic changes in DNA damage repair (DDR) genes that would make them eligible for PARP inhibitor therapy or clinical treatment trials. Despite professional guidelines that recommend testing for all pancreatic cancer patients, it remains underutilized in routine care. The study was presented at the National Society of Genetic Counselors 39th Annual Conference.
“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. “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.”
Importantly, the study of over 2,000 patients found that 15% 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. 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 United States.
In addition to evaluating the clinical relevance …
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