Economic Value of Early Genetic Testing in Inherited Retinal Dystrophy Diagnosis

OBJECTIVES: Inherited retinal dystrophies (IRDs) can cause severe visual impairment and blindness. Lack of awareness and reimbursement for genetic testing prevent many patients from receiving genetic testing timely, which results in delayed diagnosis or misdiagnosis of IRD. Healthcare utilization and costs for patients with IRD based on the timing of their genetic testing were analyzed.

METHODS: Adults with diagnosed ocular disorders from Jan 1, 2017-Jun 30, 2023, and meeting the following criteria were selected from the Optum’s de-identified Clinformatics® Data Mart databases: the first observed ocular disorder claim as the index date, a genetic test on or after the index date, a diagnosis of IRD (ICD-10-CM H35.5x) on or after the genetic test, and continuously enrolled from 6 months pre-index to the genetic test date. The study cohort was grouped into early (<1 year from index date to first genetic test) or delayed genetic testing (all others). All-cause resource utilization and costs that occurred in medical and pharmacy claims from the index date to the test date were assessed.

RESULTS: A total of 536 patients were included [mean±SD age 55±21.2 years; 64% female]. There were 270 (50.4%) in the early testing group and 266 (49.6%) in the delayed testing group [median time from index date to test date: 116 vs 805 days]. During the diagnosis journey, patients in early testing group incurred mean total healthcare costs of $13,084 (SD ±30,912), 88.7% of which were medical costs; patients in delayed testing group had 5-times higher mean total costs $76,838 (SD ±116,372), of which 82.9% were for medical services including 3-time more physician visits for ocular disorders.

CONCLUSIONS: Patients with delayed vs early genetic testing incurred substantially higher healthcare costs. Findings suggest early genetic testing may reduce the time to and costs associated with getting a confirmed diagnosis for patients with IRDs.