Internet-Based Germline Genetic Testing for Men With Metastatic Prostate Cancer

Area of Science:

• Oncology
• Genetics
• Medical Informatics

Background:

• Germline mutations in DNA repair genes are found in about 10% of men with metastatic prostate cancer (mPC).
• Genetic germline testing is recommended, but barriers like access to genetic counseling and costs exist.
• The GENTleMEN study explored an internet-based, patient-driven genetic testing model for men with mPC.

Purpose of the Study:

• To determine the feasibility of an Internet-based, patient-driven germline genetic testing approach for men with mPC.
• To assess the rate of germline DNA repair mutations in this population using a novel delivery method.

Main Methods:

• Prospective cohort study involving men with mPC.
• Informed consent and questionnaires completed via an internet-based platform.
• Genetic testing performed on saliva samples using a 30-gene targeted panel; results delivered via phone, telehealth, or email.

Main Results:

• 816 eligible men consented, with 68% completing genetic testing.
• 8.7% (48 of 551) carried pathogenic or likely pathogenic germline variants in DNA repair genes (e.g., CHEK2, BRCA2, ATM).
• Testing completion was higher among non-Hispanic White, married, highly educated, and higher-income participants.

Conclusions:

• An internet-based, patient-driven platform is a feasible method for delivering germline genetic testing to men with mPC.
• Observed mutation rates are consistent with other studies, confirming the utility of such testing.
• Further efforts are needed to reduce participation barriers, enhance outreach, and ensure equitable access for all eligible individuals.