Conference Roundup
Inherited Retinal Disease

Earlier genetic testing for IRD reduces healthcare costs

Posted on

Patients who delay genetic testing for conditions like inherited retinal dystrophy (IRD) incur significantly greater healthcare costs compared with those who undergo earlier testing. The study was presented at the 2024 ARVO Annual Meeting in Seattle, Washington.

Lack of awareness and reimbursement for genetic testing may inhibit patients from undergoing testing, resulting in delayed and/or misdiagnosed IRD, which can increase healthcare costs for patients.

A retrospective, observational, claims-based study assessed all-cause healthcare costs for 536 patients (mean age, 55 years; 64% women): 270 had early testing, defined at <1 year after first indication of an eye/retina disease, and 266 experienced delayed testing. Patients were identified using the ICD-10 diagnostic code for ocular/retinal disorders; researchers used the Clinformatics® Data Mart database to identify these patients from January 1, 2017, to June 30, 2023.

Median time to genetic testing was 116 days for the early group and 805 days for the late group. Mean total all-cause costs during the evaluation period were $13,084 for the early testing group versus $76,838 for the delayed testing group, indicating a 5-fold greater mean cost for the delayed group. Most spending was allocated to medical services like physician visits, including 88.7% in the early cohort and 82.9% in the delayed cohort.

“Early genetic testing may be beneficial to help improve diagnosis of IRDs and lower overall healthcare costs,” the authors concluded.


Zhang Q, Cai Q, Lum K, et al. Economic value of early genetic testing in inherited retinal dystrophies diagnosis. Abstract 2154. Presented at the Association for Research in Vision and Ophthalmology 2024 Annual Meeting, May 5-9, Seattle, Washington.