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The timing of genetic testing and healthcare costs associated with the diagnostic journey of inherited retinal disease

Year: 2025

Type: article

Abstract: INTRODUCTION: Inherited retinal diseases (IRDs) are a leading cause of vision loss. Lack of awareness and reimbursement may prevent timely genetic testing, leading to delays in diagnosis, genetic counseling, and impeding life planning. We assessed healthcare costs and resource utilization (HCRU) relative to the timing of the genetic test. METHODS: Patients with a clinical IRD diagnosis who underwent a genetic test from 2017-June 2023 were identified from Optum's de-identified Clinformatics® Data Mart Database. Early testing was a genetic test ≤12 months, and Delayed Testing >12 months, after the first (index) ocular/retinal disorder diagnosis. All-cause HCRU from index until first genetic test date was assessed. RESULTS: 310 patients were included; 52.6% in the Early Test (mean age 45 ± 21.9 years), 47.4% in the Delayed Test groups (54 ± 22.5 years). Median time from index to genetic test was 101 and 847 days, respectively, with corresponding mean all-cause healthcare costs of $9,073 (±$24,258) and $75,553 (±$128,716), and mean ocular/retinal disorder-related costs of $2,899 (±$6,383) and $10,946 (±$32,801). The mean cost of genetic testing was US$585/patient. CONCLUSIONS: Patients undergoing delayed vs early genetic testing incurred substantially higher HCRU. The cost to payers of genetic testing was markedly lower than the costs incurred when testing was delayed.

Source: Ophthalmic Genetics

DOI: 10.1080/13816810.2025.2591826