OBJECTIVES: Inherited retinal diseases (IRDs) cause progressive vision loss and are the leading cause of disability and blindness. Genetic testing in IRD may identify vision-associated gene mutations which may allow patients to receive novel gene therapies or enroll in clinical trials. The objective was to understand current utilization of genetic testing specific to IRDs, including percent utilization, costs, and approval/rejection rates in the United States.

METHODS: IRD patients were included if they had >2 IRD diagnoses between 1/2019-11/2022. Genetic testing procedures were identified by Current Procedural Terminology code; claims were analyzed for rate of approval, rate of rejection, and reimbursement amount using clearinghouse information. The rejected claims were further evaluated for reasons of rejection. Patients’ out-of-pocket (OOP) costs and payers’ reimbursement amounts were assessed for approved claims.

RESULTS: Out of 166,781 IRD patients, only 2% had recorded claims for genetic testing. Roughly 31% of these claims for genetic testing were approved for payment by payers. The overall mean OOP amount for a patient-paid claim was $10.71, whereas the mean payer reimbursement was $1,091.26. Approval for IRD genetic testing ranged from 11% (government plans and Veterans Affairs) to 47% (Medicare). Reasons for rejected claims ranged from “Patient Responsible for Payment” (2%) to “Patient/Product Not Covered” (38%).

CONCLUSIONS: These real-world data suggest low utilization of genetic testing by healthcare professionals, even though the OOP expenditures and cost of genetic testing for IRD may be affordable to many patients or payers. The American Academy of Ophthalmology diagnosis guidelines recommend using genetic testing to enable patients to receive treatments such as voretigene neparvovec-rzyl and to enroll patients in clinical trials for IRD. Eyecare professionals and payers need to be informed of the importance of genetic testing, given the current significant increase in clinical development for IRD patients, in which previously no treatments were available.