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Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake

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 obt...

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Detalles Bibliográficos
Autores principales: Ramsey, Mitchell L., Tomlinson, Jewel, Pearlman, Rachel, Abushahin, Laith, Aeilts, Amber, Chen, Hui-Zi, Chen, Yan, Compton, Ashley, Elkhatib, Rifat, Geiger, Levi, Hays, John, Jeter, Joanne, Jin, Ning, Malalur, Pannaga, Roychowdhury, Sameek, Ruple, Jessica, Prebish, Jennifer, Stanich, Peter P., Hampel, Heather
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Springer Netherlands 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9204376/
https://www.ncbi.nlm.nih.gov/pubmed/35713757
http://dx.doi.org/10.1007/s10689-022-00300-5
Descripción
Sumario: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. SUPPLEMENTARY INFORMATION: The online version contains supplementary material available at 10.1007/s10689-022-00300-5.