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Genetic Counseling and Testing of Patients With Pancreatic Cancer


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Routine genetic counseling and multigene testing of patients with pancreatic cancer result in the detection of mutations that are actionable, not only for patients, but also for at-risk family members. At the Dana-Farber Cancer Institute in Boston, the use of a systemized, automated referral system that does not rely on oncologists’ referrals resulted in markedly higher uptake of genetic counseling/multigene testing as well as greater identification of mutation carriers.1

Up to 10% of persons with pancreatic cancer harbor germline mutations in cancer susceptibility genes. These mutations have implications for targeted therapies, most important poly (ADP ribose) polymerase (PARP) inhibitors, especially olaparib, which is approved as maintenance therapy in BRCA-mutated disease. National guidelines endorse genetic counseling and multigene testing of all patients with pancreatic cancer, as they are pivotal to the “cascade testing” of at-risk family members, said Matthew B. Yurgelun, MD, of Dana-Farber Cancer Institute.

Matthew B. Yurgelun, MD

Matthew B. Yurgelun, MD

“Traditional care delivery models make universal genetic counseling and multigene germline testing challenging,” stated Dr. Yurgelun. Patients have a limited life expectancy and competing demands for medical care, and the paradigm is new for providers. Dr. Yurgelun and colleagues aimed to make testing and counseling easier and more productive by incorporating universal genetic counseling/multigene testing for all patients with pancreatic cancer seen at their center.

Automated Referral System

Gastrointestinal oncologists at the Dana-Farber Cancer Institute were asked to refer all patients with pancreatic cancer for genetic counseling and multigene testing from March 2017 to September 2018. In October 2018, workflows were changed so that new patients were automatically scheduled for genetic counseling consultation on the same day as their initial oncologic evaluation (unless they opted out). The newer method did not rely on provider referral.

Clinical and germline data were collected on a consecutive cohort of patients with pancreatic cancer undergoing genetic counseling/multigene testing from March 1, 2017, to March 31, 2019. The achievement of genetic counseling/multigene testing was compared for the oncology referral period and the automatic scheduling period. The primary outcome was uptake of genetic counseling and multigene testing.

Over the 25-month study period, 1,204 new patients with pancreatic cancer were seen for evaluation (48 per month). Of them, 271 underwent genetic counseling and multigene testing (11 per month; 22% of all new patients). Testing revealed 28 mutation carriers harboring 9 distinct mutations, most commonly ATM (n = 8), BRCA2 (n = 7), and BRCA1 (n = 4). This represented 10% of patients who underwent genetic counseling/multigene testing and about 2% of all new patients with pancreatic cancer, Dr. Yurgelun said. The automated referral process significantly increased during the automated referral period and ultimately almost tripled the number of carriers identified.

“The majority of identified mutation carriers have either received therapy targeted toward their germline mutation or are undergoing first-line palliative systemic therapy with the potential for future targeted therapy,” said Dr. Yurgelun. He acknowledged that although the automated process doubled the number of patients counseled or tested and the number of carriers identified, the majority of new patients with pancreatic cancer still do not undergo genetic counseling/multigene testing. The study showed the feasibility of an automated referral process, he noted, and “providers and patients often act on the results,” he added. 

DISCLOSURE: Dr. Yurgelun reported no conflicts of interest.

REFERENCE

1. Yurgelun MB, Chittenden AB, Ukaegbu CI, et al: Implementation of systematic genetic counseling and multigene germline testing for pancreatic cancer patients. 2020 Gastrointestinal Cancers Symposium. Abstract 678. Presented January 24, 2020.


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