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Erschienen in:
12.08.2024 | Translational Research
Development of a Novel Protocol for Germline Testing in Pancreatic Cancer
verfasst von: Hannah G. McDonald, MD, Andrew Kennedy, MD, Angelica L. Solomon, MD, Chelsey M. Williams, DO, Anna M. Reagan, MD, Emily Cassim, MD, Megan Harper, MS, MD, PhD, Erin Burke, MD, Terra Armstrong, MS, LGC, Michael Gosky, MS, LGC, Michael Cavnar, MD, Prakash K. Pandalai, MD, Mautin Barry-Hundeyin, MD, Reema Patel, MD, Snigdha Nutalapati, MD, Jessica Moss, MD, Pamela C. Hull, PhD, Jill Kolesar, PharmD, Justine C. Pickarski, MS, LGC, Joseph Kim, MD
Erschienen in: Annals of Surgical Oncology | Ausgabe 12/2024
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Background
Guidelines now recommend universal germline genetic testing (GGT) for all pancreatic ductal adenocarcinoma (PDAC) patients. Testing provides information on actionable pathogenic variants and guides management of patients and family. Since traditional genetic counseling (GC) models are time-intensive and GC resources are sparse, new approaches are needed to comply with guidelines without overwhelming available resources.
Methods
A novel protocol was developed for physician-led GGT. Completed test kits were delivered to the GC team, who maintained a prospective database and mailed all orders. If results revealed pathogenic variants for PDAC, patients were offered comprehensive GC, whereas negative and variant of uncertain significance (VUS) test results were reported to patients via brief calls.
Results
During protocol implementation between January 2020 and December 2022, 310 (81.5%) patients underwent GGT, with a physician compliance rate of 82.6% and patient compliance rate of 98.7%. Of 310 patients tested, 44 (14.2%) patients had detection of pathogenic variants, while 83 (26.8%) patients had VUS. Pathogenic variants included BRCA1/BRCA2/PALB2 (n = 18, 5.8%), ATM (n = 9, 2.9%), CFTR (n = 4, 1.3%), EPCAM/MLH1/MSH2/MSH6/PMS2 (n = 3, 1.0%), and CDKN2A (n = 2, 0.7%). The GC team successfully contacted all patients with pathogenic variants to discuss results and offer comprehensive GC.
Conclusion
Our novel protocol facilitated GGT with excellent compliance despite limited GC resources. This framework for GGT allocates GC resources to those patients who would benefit most from GC. As we continue to expand the program, we seek to implement methods to ensure compliance with cascade testing of high-risk family members.
