Academic Journal
An interdisciplinary Inherited Retinal Disease clinic improves time to genetic diagnosis and access to genetics services.
| Title: | An interdisciplinary Inherited Retinal Disease clinic improves time to genetic diagnosis and access to genetics services. |
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| Authors: | Goldin MR; Department of Ophthalmology and Visual Sciences, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Suh H; Department of Ophthalmology and Visual Sciences, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Kessler C; Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Nashville, Tennessee, USA., Dones A; Department of Ophthalmology and Visual Sciences, Vanderbilt University School of Medicine, Nashville, Tennessee, USA., Zubieta D; Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Nashville, Tennessee, USA., Decker J; Division of Medical Genetics and Genomic Medicine, Department of Pediatrics, Vanderbilt University Medical Center, Nashville, Tennessee, USA., Brantley MA Jr; Department of Ophthalmology and Visual Sciences, Vanderbilt Eye Institute, Nashville, Tennessee, USA. |
| Source: | Ophthalmic genetics [Ophthalmic Genet] 2026 Jun; Vol. 47 (3), pp. 268-274. Date of Electronic Publication: 2026 Feb 23. |
| Publication Type: | Journal Article |
| Language: | English |
| Journal Info: | Publisher: Informa Healthcare Country of Publication: England NLM ID: 9436057 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1744-5094 (Electronic) Linking ISSN: 13816810 NLM ISO Abbreviation: Ophthalmic Genet Subsets: MEDLINE |
| Imprint Name(s): | Publication: London : Informa Healthcare Original Publication: Buren, The Netherlands : Aeolus Press, c1994- |
| MeSH Terms: | Genetic Testing*/statistics & numerical data , Retinal Diseases*/diagnosis , Retinal Diseases*/genetics , Health Services Accessibility*/statistics & numerical data , Genetic Services*/statistics & numerical data , Genetic Services*/organization & administration, Genetic Counseling/statistics & numerical data ; Humans ; Female ; Retrospective Studies ; Male ; Adult ; Middle Aged ; Referral and Consultation ; Adolescent ; Young Adult ; Aged |
| Abstract: | 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. |
| Contributed Indexing: | Keywords: Inherited Retinal Disease; clinic model; genetic counseling; genetic testing |
| Entry Date(s): | Date Created: 20260223 Date Completed: 20260708 Latest Revision: 20260715 |
| Update Code: | 20260716 |
| DOI: | 10.1080/13816810.2026.2624617 |
| PMID: | 41730754 |
| Database: | MEDLINE |
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