Abstract
Purpose :
Inherited retinal dystrophies (IRDs) are a diverse group of diseases that can cause severe vision loss due to blindness. Genetic testing is a critical step for a confirmatory IRD diagnosis. Lack of awareness and reimbursement for genetic testing prevent many patients from receiving genetic testing early, which results in delayed diagnosis or misdiagnosis of IRD. There are limited real-world studies on the diagnostic journey and associated costs for patients with IRDs. We performed a retrospective, observational, claims-based study to compare all-cause healthcare costs for early vs delayed genetic testing among patients with IRDs.
Methods :
Adults who had an ICD-10 diagnosis code for ocular/retinal disorders from Jan 1, 2017-Jun 30, 2023 were selected from the Optum’s de-identified Clinformatics® Data Mart databases. Index date was the date of first observed ocular/retina disorder claim. Patients should not have ocular/retinal disorder within 6 months prior to the index date, should have a genetic test on or after the index date, a diagnosis code of IRD (ICD-10-CM H35.5x) on or after the genetic test, and continuous enrollment from 6 months pre-index to the genetic test date. Patients were categorized into the early testing group if the first genetic test was within 12 months post-index date; otherwise, they were put into the delayed testing group. All-cause resource utilization and associated costs that occurred in medical and pharmacy claims from the index date to the test date (i.e., the evaluation period) were assessed.
Results :
A total of 536 patients were included [mean (±SD) age 55 (±21.2) years; 64% female]. 270 (50.4%) patients were in the early testing group and 266 (49.6%) were in the delayed testing group [median time from index date to test date: 116 vs 805 days]. During the evaluation period, patients in the early testing group incurred mean total all-cause costs of $13,084 (SD ±30,912), 88.7% of which were attributable to medical costs; patients in the delayed testing group incurred 5-times higher mean total all-cause costs of $76,838 (SD ±116,372), of which 82.9% were due to medical services.
Conclusions :
Patients with delayed genetic testing incurred significantly higher healthcare costs than those with early testing. Findings suggest early genetic testing will reduce the duration and costs for the diagnostic journey of patients with IRDs.
This abstract was presented at the 2024 ARVO Annual Meeting, held in Seattle, WA, May 5-9, 2024.