Ophthalmic genetics · 2026
An interdisciplinary Inherited Retinal Disease clinic improves time to genetic diagnosis and access to genetics services.
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Goldin Melissa R, Suh Heezy, Kessler Cecilia, Dones Andres, Zubieta Daniella, Decker JaLisa, Brantley Milam A
Аннотация
BACKGROUND: Inherited Retinal Diseases (IRDs) are a leading cause of genetic vision loss. Ophthalmic and genetic care for patients with IRDs requires extensive interdisciplinary coordination. In this retrospective cohort study, we compared timeliness and access to genetics services between a referral-based clinic model and an interdisciplinary clinic model.
METHODS: 374 patients were evaluated for IRDs between January 2021 and February 2025. 239 (64%) were seen in a retina clinic with the option for referral to genetics services; 135 (35%) were seen in an interdisciplinary clinic offering same-day ophthalmology and genetic services. Outcomes were analyzed using chi-squared tests and general linear models. The primary outcomes were time to genetic diagnosis, genetic test completion, and genetic counseling utilization.
RESULTS: Mean time to genetic diagnosis was significantly shorter in the interdisciplinary clinic (67 days) compared to the retina clinic (286 days) (p < 0.001). A higher proportion of those seen in the interdisciplinary model completed genetic testing (90.00% vs. 78.25%, p = 0.035) and saw a genetic counselor (64.66% vs. 48.12%, p < 0.001).
CONCLUSIONS: Interdisciplinary care expedited genetic diagnosis, increased genetic testing completion, and increased genetic counseling utilization in IRD evaluations. Timely genetic diagnosis may facilitate access to clinical trials, alleviate diagnostic uncertainty, and aid in planning for the future.
METHODS: 374 patients were evaluated for IRDs between January 2021 and February 2025. 239 (64%) were seen in a retina clinic with the option for referral to genetics services; 135 (35%) were seen in an interdisciplinary clinic offering same-day ophthalmology and genetic services. Outcomes were analyzed using chi-squared tests and general linear models. The primary outcomes were time to genetic diagnosis, genetic test completion, and genetic counseling utilization.
RESULTS: Mean time to genetic diagnosis was significantly shorter in the interdisciplinary clinic (67 days) compared to the retina clinic (286 days) (p < 0.001). A higher proportion of those seen in the interdisciplinary model completed genetic testing (90.00% vs. 78.25%, p = 0.035) and saw a genetic counselor (64.66% vs. 48.12%, p < 0.001).
CONCLUSIONS: Interdisciplinary care expedited genetic diagnosis, increased genetic testing completion, and increased genetic counseling utilization in IRD evaluations. Timely genetic diagnosis may facilitate access to clinical trials, alleviate diagnostic uncertainty, and aid in planning for the future.