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Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer.
Cheng, Heather H; Sokolova, Alexandra O; Gulati, Roman; Bowen, Deborah; Knerr, Sarah A; Klemfuss, Nola; Grivas, Petros; Hsieh, Andrew; Lee, John K; Schweizer, Michael T; Yezefski, Todd; Zhou, Alicia; Yu, Evan Y; Nelson, Peter S; Montgomery, Bruce.
Afiliação
  • Cheng HH; University of Washington, Seattle, WA.
  • Sokolova AO; Fred Hutchinson Cancer Center, Seattle, WA.
  • Gulati R; Oregon Health Science University, Portland, OR.
  • Bowen D; Fred Hutchinson Cancer Center, Seattle, WA.
  • Knerr SA; University of Washington, Seattle, WA.
  • Klemfuss N; University of Washington, Seattle, WA.
  • Grivas P; University of Washington, Seattle, WA.
  • Hsieh A; University of Washington, Seattle, WA.
  • Lee JK; Fred Hutchinson Cancer Center, Seattle, WA.
  • Schweizer MT; University of Washington, Seattle, WA.
  • Yezefski T; Fred Hutchinson Cancer Center, Seattle, WA.
  • Zhou A; University of Washington, Seattle, WA.
  • Yu EY; Fred Hutchinson Cancer Center, Seattle, WA.
  • Nelson PS; University of Washington, Seattle, WA.
  • Montgomery B; Fred Hutchinson Cancer Center, Seattle, WA.
JCO Precis Oncol ; 7: e2200104, 2023 01.
Article em En | MEDLINE | ID: mdl-36623239
ABSTRACT

PURPOSE:

Germline mutations in DNA repair genes are present in approximately 10% of men with metastatic prostate cancer (mPC), and guidelines recommend genetic germline testing. Notable barriers exist, including access to genetic counseling, insurance coverage, and out-of-pocket costs. The GENTleMEN study was designed to determine the feasibility of an Internet-based, patient-driven germline genetic testing approach for men with mPC. PATIENTS AND

METHODS:

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.

RESULTS:

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.

CONCLUSION:

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.
Assuntos

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Próstata / Testes Genéticos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Neoplasias da Próstata / Testes Genéticos Tipo de estudo: Diagnostic_studies / Observational_studies / Prognostic_studies / Qualitative_research / Risk_factors_studies Limite: Humans / Male Idioma: En Ano de publicação: 2023 Tipo de documento: Article