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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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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
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author 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
author_facet 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
author_sort Ramsey, Mitchell L.
collection PubMed
description 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.
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spelling pubmed-92043762022-06-17 Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake 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 Fam Cancer Original Article 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. Springer Netherlands 2022-06-17 2023 /pmc/articles/PMC9204376/ /pubmed/35713757 http://dx.doi.org/10.1007/s10689-022-00300-5 Text en © The Author(s), under exclusive licence to Springer Nature B.V. 2022 This article is made available via the PMC Open Access Subset for unrestricted research re-use and secondary analysis in any form or by any means with acknowledgement of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic.
spellingShingle Original Article
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
Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake
title Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake
title_full Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake
title_fullStr Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake
title_full_unstemmed Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake
title_short Mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake
title_sort mainstreaming germline genetic testing for patients with pancreatic cancer increases uptake
topic Original Article
url 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
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