Faculty Collaboration Database

Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake. Fam Cancer 2023 Jan;22(1):91-97

Date

06/18/2022

Pubmed ID

35713757

Pubmed Central ID

PMC9204376

DOI

10.1007/s10689-022-00300-5

Scopus ID

2-s2.0-85132186768 (requires institutional sign-in at Scopus site)   5 Citations

Abstract

Germline genetic testing is recommended for all patients with pancreatic cancer (PC) but uptake rates are low. We implemented a mainstreaming program in oncology clinics to increase testing for PC patients. Genetic counselors trained oncology providers to offer a standardized multigene panel and obtain informed consent using an educational video. Pre-test genetic counseling was available upon request. Otherwise, patients with identified pathogenic variants, strong family history, or questions regarding their results were referred for post-test genetic counseling. We measured rates of testing and genetic counseling visits. From September 2019 to April 2021, 245 patients with PC underwent genetic testing. This represents a 6.5-fold increase in germline testing volume (95% confidence interval 5.2-8.1) compared to previous years. At least one pathogenic or likely pathogenic variant (PV/LPV) was found in 34 (13.9%) patients, including 17 (6.9%) PV/LPVs in high or moderate risk genes and 18 (7.3%) in low risk or recessive genes. Five (2.0%) PVs had implications on treatment selection. 22 of the positive patients (64.7%) and an additional 8 PC patients (1 negative, 3 VUS, and 4 pre-test) underwent genetic counseling during the study period. Genetic counselors saw 2.0 PC patients/month prior to this project, 1.6 PC patients/month during this project, and would have seen 2.2 PC patients/month if all patients with pathogenic variants attended post-test counseling. Conclusions Mainstreaming genetic testing expands access for PC patients without overwhelming genetic counseling resources.

Author List

Ramsey ML, Tomlinson J, Pearlman R, Abushahin L, Aeilts A, Chen HZ, Chen Y, Compton A, Elkhatib R, Geiger L, Hays J, Jeter J, Jin N, Malalur P, Roychowdhury S, Ruple J, Prebish J, Stanich PP, Hampel H

Author

Hui-Zi Chen MD, PhD Assistant Professor in the Medicine department at Medical College of Wisconsin

MESH terms used to index this publication - Major topics in bold

Genetic Counseling
Genetic Predisposition to Disease
Genetic Testing
Germ-Line Mutation
Humans
Pancreatic Neoplasms