Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer.
The GENTleMEN study was designed to determine the feasibility of an Internet-based, patient-driven germline genetic testing approach for men with mPC.
In this prospective cohort study, men with mPC provided informed consent via an Internet-based platform and completed a questionnaire including demographics and family cancer history. Supporting medical data were also collected. Genetic testing was performed using the Color Genomics 30-gene targeted panel of cancer predisposition genes on a mailed saliva sample. Men whose test results identified a germline pathogenic or likely pathogenic variant received results by phone or telehealth genetic counseling; other participants received results by email with an option for phone-based or telehealth genetic counseling.
As of August 18, 2021, 816 eligible men were consented, of whom 68% (551) completed genetic testing, and 8.7% (48 of 551) were found to carry a pathogenic or likely pathogenic variant in a germline DNA repair gene: CHEK2 (17), BRCA2 (15), ATM (6), NBN1 (3), BRCA1 (2), PALB2 (2), PMS2 (2), and MSH6 (1). Participants were more likely to complete the testing process if they were non-Hispanic White, married, highly educated, or from a higher-income bracket.
Here, we show the feasibility of delivering germline (inherited) genetic testing by a voluntary, patient-driven, Internet-based platform to men with mPC. Preliminary results show rates of germline DNA repair mutations, consistent with other cohorts. Although feasible for some, reduced steps for participation, more dedicated diverse outreach and participant support, and identification and addressing of additional barriers is needed to ensure equitable access and optimization.
JCO precision oncology. 2023 Jan [Epub]
Heather H Cheng, Alexandra O Sokolova, Roman Gulati, Deborah Bowen, Sarah A Knerr, Nola Klemfuss, Petros Grivas, Andrew Hsieh, John K Lee, Michael T Schweizer, Todd Yezefski, Alicia Zhou, Evan Y Yu, Peter S Nelson, Bruce Montgomery
University of Washington, Seattle, WA., Oregon Health Science University, Portland, OR., Fred Hutchinson Cancer Center, Seattle, WA., Color Health, Inc., Burlingame, CA.
PubMed http://www.ncbi.nlm.nih.gov/pubmed/36623239
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Breaking Down Barriers: Feasibility of Internet-based Genetic Testing for Men with Metastatic Prostate Cancer, The GENTleMEN Study -Heather Cheng