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PubMed · 40682473

Genetics first approach: Expanding the utility of genetic testing by nongeneticist physicians.

Rotem Greenberg·Noa Shefer Averbuch·Lena Sagi-Dain·Idit Maya·Noa Ruhrman Shahar·Nesia Kropach-Gilad·Dina Mark-Yagel·Ran D Balicer·Shay Ben Shachar
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Abstract

PURPOSE: The increasing demand for genetic testing and a global shortage of geneticists has significantly strained health care systems worldwide. This highlighted the need for new strategies aiming to increase testing accessibility, reduce wait times, and enhance patient care quality. METHODS: We implemented a 4-step program, "Genetics First," to empower nongeneticist physicians (NGPs) to play an active role in the process of genetic consultation and testing. The steps included (1) establishing criteria to identify suitable clinical domains, (2) selecting clinical indications within the domain through expert panel review, (3) designing tailored education and workflows for NGPs across indications, and (4) monitoring test outcomes and providing further support for complex cases. Test outcomes were compared between NGPs and clinical geneticists. RESULTS: Endocrinology was selected as the first domain, with 114 endocrinologists who completed the program. During the study, 260 gene panels were performed for monogenic diabetes, with NGPs initiating 68% of tests, leading to a 107% increase in referrals. The diagnostic yield was 30%, with no significant difference between NGP- and clinical geneticist-initiated tests. CONCLUSION: This study demonstrates the feasibility and impact of involving NGPs in genetic testing, offering a paradigm shift that could expand access to genetic testing and improve patients' care and clinical outcomes.

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HumansGenetic TestingPhysiciansReferral and ConsultationFemaleMaleGenetic CounselingEndocrinologyGenetic educationGenetic workforceMonogenic diabetesTesting accessibilityJournal Article

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Rotem Greenberg, Noa Shefer Averbuch, Lena Sagi-Dain, Idit Maya, Noa Ruhrman Shahar, Nesia Kropach-Gilad, Dina Mark-Yagel, Ran D Balicer, Shay Ben Shachar. 2025-07-16. Genetics first approach: Expanding the utility of genetic testing by nongeneticist physicians.. https://doi.org/10.1016/j.gim.2025.101530

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