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Erschienen in: Familial Cancer 1/2023

17.06.2022 | Original Article

Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake

verfasst von: Mitchell L. Ramsey, Jewel Tomlinson, Rachel Pearlman, Laith Abushahin, Amber Aeilts, Hui-Zi Chen, Yan Chen, Ashley Compton, Rifat Elkhatib, Levi Geiger, John Hays, Joanne Jeter, Ning Jin, Pannaga Malalur, Sameek Roychowdhury, Jessica Ruple, Jennifer Prebish, Peter P. Stanich, Heather Hampel

Erschienen in: Familial Cancer | Ausgabe 1/2023

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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.
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Metadaten
Titel
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake
verfasst von
Mitchell L. Ramsey
Jewel Tomlinson
Rachel Pearlman
Laith Abushahin
Amber Aeilts
Hui-Zi Chen
Yan Chen
Ashley Compton
Rifat Elkhatib
Levi Geiger
John Hays
Joanne Jeter
Ning Jin
Pannaga Malalur
Sameek Roychowdhury
Jessica Ruple
Jennifer Prebish
Peter P. Stanich
Heather Hampel
Publikationsdatum
17.06.2022
Verlag
Springer Netherlands
Erschienen in
Familial Cancer / Ausgabe 1/2023
Print ISSN: 1389-9600
Elektronische ISSN: 1573-7292
DOI
https://doi.org/10.1007/s10689-022-00300-5

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