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Outcomes of a universal germline screening program in a community urology practice
Neil Mendhiratta1, Herman Hauver2, Whitley Hatton3
1Urologic Oncology Branch, National Cancer Institute, Bethesda, Maryland, USA.
Clinical Genetics
|May 7, 2024
Summary
A universal germline screening program in community urology successfully identified pathogenic mutations in 8.6% of tested patients, demonstrating feasibility despite implementation challenges.
Area of Science:
- Urology
- Oncology
- Genetics
Background:
- Germline genetic testing is increasingly important in urologic oncology.
- Implementing genetic testing in community practices is challenging due to limited access to genetics professionals.
Purpose of the Study:
- To report the outcomes of a universal germline screening program in a community urology practice.
- To assess the feasibility and yield of germline genetic testing in a community setting.
Main Methods:
- A universal germline screening questionnaire was administered to patients in a community urology clinic.
- Responses were evaluated against National Comprehensive Cancer Network (NCCN) criteria.
- Patients meeting criteria received counseling and underwent germline genetic testing using targeted gene panels.
Main Results:
- 505 patients completed the screening questionnaire (66.0% completion rate).
- 24.7% of screened patients met NCCN criteria for germline testing.
- 8.6% of tested patients had pathogenic mutations identified, including actionable mutations in BRCA1, BRCA2, CHEK2, and NBN.
Conclusions:
- Universal germline screening is feasible in community urology practices.
- The program identified actionable mutations in a significant proportion of tested patients.
- Implementation challenges include consent, specimen collection, and electronic health record integration.
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