Germline genetic testing among patients with pancreatic adenocarcinoma: A Pancreatic Cancer Action Network patient survey.

backgroundApproximately 10%-15% of patients with pancreatic ductal adenocarcinoma (PDAC) harbor pathogenic germline genetic alterations with direct therapeutic and hereditary cancer implications, leading to guideline recommendations for universal germline genetic testing regardless of family history.

methodsThe authors conducted a cross-sectional electronic survey in collaboration with the Pancreatic Cancer Action Network (PanCAN). Surveys were distributed October-December 2024 to registry participants. Primary outcomes included being offered and completion of germline genetic testing. Secondary outcomes included genetic counseling, mutation results, and cascade testing among first-degree relatives (FDR). Multivariable logistic regression was used to identify factors associated with testing offer and completion.

resultsAmong 1046 respondents, 66.2% were offered germline genetic testing and 69.2% completed testing. Black race, lack of insurance, unknown stage at diagnosis, and treatment at community practices were associated with lower odds of being offered testing. Completion of testing was lower among Black and Hispanic participants, uninsured individuals, and those treated in community settings, whereas patients with stage IV disease had the highest odds of completion. Among tested participants, 23.2% had a pathogenic germline variant, most commonly BRCA2, ATM, and BRCA1. Only 61.7% of mutation-positive respondents reported cascade testing in an FDR. Receipt of genetic counseling was associated with higher rates of cascade testing (p < .01).

conclusionsUniversal germline genetic testing in PDAC remains incompletely implemented, with persistent inequities. Lack of discussion or offer of testing represents a key missed opportunity, underscoring the need for targeted interventions and expanded access.