Journal article
Development of a Novel Protocol for Germline Testing in Pancreatic Cancer
Annals of surgical oncology, Vol.31(12), pp.7705-7712
11/2024
DOI: 10.1245/s10434-024-16011-3
PMID: 39133448
Abstract
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.BACKGROUNDGuidelines 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.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.METHODSA 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.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.RESULTSDuring 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.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.CONCLUSIONOur 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.
Details
- Title: Subtitle
- Development of a Novel Protocol for Germline Testing in Pancreatic Cancer
- Creators
- Hannah G McDonald - University of KentuckyAndrew Kennedy - University of KentuckyAngelica L Solomon - University of KentuckyChelsey M Williams - University of KentuckyAnna M Reagan - University of KentuckyEmily Cassim - University of KentuckyMegan Harper - University of KentuckyErin Burke - University of KentuckyTerra Armstrong - Markey Cancer CenterMichael Gosky - Markey Cancer CenterMichael Cavnar - University of KentuckyPrakash K Pandalai - University of KentuckyMautin Barry-Hundeyin - University of KentuckyReema Patel - University of KentuckySnigdha Nutalapati - University of KentuckyJessica Moss - University of KentuckyPamela C Hull - University of KentuckyJill Kolesar - University of KentuckyJustine C Pickarski - Markey Cancer CenterJoseph Kim - University of Kentucky
- Resource Type
- Journal article
- Publication Details
- Annals of surgical oncology, Vol.31(12), pp.7705-7712
- Publisher
- SPRINGER
- DOI
- 10.1245/s10434-024-16011-3
- PMID
- 39133448
- ISSN
- 1534-4681
- eISSN
- 1534-4681
- Grant note
- NIH: T32CA60003
HGM, AMR, and MMH were funded by NIH T32CA60003.
- Language
- English
- Electronic publication date
- 08/12/2024
- Date published
- 11/2024
- Academic Unit
- Pharmacy; Pharmaceutical Sciences and Experimental Therapeutics
- Record Identifier
- 9984696804902771
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