Cancer Susceptibility Gene Testing in Patients With Pancreatic Ductal Adenocarcinoma: Implementation in a Cancer Center Oncology Clinic

Abstract

Purpose: Current guidelines recommend offering genetic susceptibility testing to individuals with pancreatic cancer regardless of family history, but previous studies have reported only moderate test uptake, highlighting the need for efficient and accessible clinical pathways for delivering pretest genetic education and testing. We evaluated gene testing uptake offered at the point-of-oncology care by a nongenetics provider in an outpatient setting.

Methods: A retrospective chart review was performed of patients with pancreatic cancer treated at the Johns Hopkins Hospital between January 2021 and December 2023. During their initial clinic visit, patients were educated about germline testing by an oncology nurse and provided with educational and instructional handouts and video links, including how to arrange testing (with saliva) with a commercial testing provider. Patients with pathogenic variants and variants of uncertain significance were referred for genetic counseling.

Results: Of the 992 patients seen in the oncology clinic (52.1% male, 75.4% White, 15.4% African American, 6% Asian; median age at diagnosis, 66.9 ± 10.6 years), 90% were offered testing, 77.6% of whom completed it. Factors significantly associated with not going forward with testing included being single, older age, African American, and having advanced-stage disease. Among the tested individuals, 78 (11.3%) had a pathogenic variant identified, including 55 (7.9%) with a pancreatic cancer susceptibility gene variant; of these, 72 (92.3%) were referred for genetic counseling and 50 (69.4%) completed their counseling visit. Testing led to a change in chemotherapy regimen in 28 patients.

Conclusion: The implementation of point-of-care encounters for cancer susceptibility gene testing by an oncology nurse in the outpatient setting yielded a high uptake of testing. Additional approaches are needed to increase testing rates and cancer genetics visits.