Referral frequency, attrition rate, and outcomes of germline testing in patients with pancreatic adenocarcinoma
2019
Hereditary predisposition is estimated to account for 10% of all pancreatic cancer cases. However, referral patterns and clinical workflow for
germlinetesting in this disease differ significantly by institution, and many at-risk patients may not undergo appropriate counseling and testing. We undertook an analysis of patients diagnosed with pancreatic cancer (PDAC) who were referred to the Clinical Genetics program of a high-volume academic center over a 3-year period to assess referral frequency, evaluate the yield of
germlinetesting in this selected patient cohort, and elucidate the reasons individuals did not undergo recommended
germlinetesting. Medical records of patients with PDAC referred for
genetic counselingbetween January 2015 and October 2017 were reviewed for demographic, medical/family history, and disease-specific data. If testing did not occur, reasons were documented. Genetic test results were categorized as negative, variants of unknown significance, or established pathogenic mutations. Descriptive statistics included means with standard deviations; associations were analyzed with t test and Fisher’s exact test. 32% (137 of 432) of PDAC patients were referred for
genetic counseling, but only 64% attended their appointment and 60% ultimately underwent
germlinetesting. Common reasons for attrition included worsening disease severity, lack of patient follow-up, insurance concerns, and logistic/travel challenges. Pathogenic
germline mutationswere detected in 20% (16 of 82) of patients tested, distributed across races/ethnicities, and significantly associated with younger age and positive family history of breast cancer. PDAC patients frequently do not undergo
genetic counseling/
germlinetesting despite appropriate referrals, highlighting a need to develop streamlined processes to engage more patients in testing, especially those with high-risk features.
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