Identifying More Pancreatic Cancer Gene Mutations With Mandatory Genetic Testing, Counseling

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Gastrointestinal oncologists found more genetic mutations in pancreatic cancer patients after implementing systematic genetic screening and genetic counseling, according to new research led by Dana-Farber.

Multigene germline testing (MGT), a screening test for inherited pancreatic cancer (PC) genes, and genetic counseling were used by gastrointestinal oncologists at Dana-Farber. When genetic mutations were identified in pancreatic cancer patients, those patients and their families receive targeted screenings and therapies for PC.

The researchers presented their findings at the 2019 Collaborative Group of the Americas (CGA) Annual Meeting in Salt Lake City.

National guidelines were updated just last year to recommend MGT and genetic counseling for all pancreatic cancer patients, but systematically performing MGT in real world practice has been a challenge” said Matthew Yurgelun, MD, director of the Lynch Syndrome Center at Dana-Farber and the study’s lead author.

Patients with PC have many competing medical demands and genetic testing can get lost in the shuffle, he added.  Also, most programs rely on the oncologist to initiate a referral for testing and the oncologist may either forget or decide to address it later, but it is never done.

The bottom line is that people risk not having their genetic alterations identified if they aren’t scheduled for, or choose to skip, genetic consultations.

“We used to only consider patients for genetic testing if they had high-risk features of PC or a family history of it,” Yurgelun said.

The sooner genetic mutations are found, the quicker people with PC and their family members receive screenings and special therapies for their genetic mutations and other associated cancers. “The genes that cause PC can also cause other cancers,” said Yurgelun. “For example, BRCA1 and BRCA2 cause pancreatic, breast, ovarian, and prostate cancers.”

Past studies have shown that MGT allows physicians to identify up to 4 percent to 10 percent of cancer susceptibility gene variants. Because of the importance of MGT, gastrointestinal oncologists at DFCI launched a policy in 2016 that all PC patients receive MGT and genetic counseling. By October 2018, all PC patients seen at the DFCI were offered a visit for genetic counseling the same day as their first oncology evaluation.

The study included patients from one cancer institute, which limited the study. The study was also limited because some patients chose not to undergo testing.

“It’s not the right fit for everyone to see a genetic counselor at first visit,” said Yurgelun. “Some patients are coming for one-time second opinions or they have too much on their plates with a new diagnosis, so it’s difficult for them to come back again.”

In the future, Yurgelun and his team hope to find new ways to deliver MGT and counseling. “New ways to implement genetic testing that don’t rely on in-person pre-test genetic counselors, like videos, may be more feasible. We are also looking at ‘cascade testing,’ which is the downstream testing of at-risk relatives once a genetic mutation is identified in the family, in a nation-wide study called GENERATE.”

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