Johnson & Johnson (J&J) introduced a first-of-its-kind, global inherited retinal disease (IRD) registry during the 2024 Association for Research in Vision and Ophthalmology (ARVO) annual meeting earlier this week.
Let’s dive right in.
J&J’s EYE-RD Global Registry is an observational, non-interventional, and global IRD registry that’s expected to last 8+ years.
Its purpose: To make IRD clinical information more accessible to patients, providers, payers, and researchers alike.
And how will it do this?
Essentially, by serving as a “centralized repository of longitudinal data” that’s collected from patients who are genetically tested and diagnosed or have a suspected diagnosis of IRDs, according to J&J.
- Examples of these: x-linked retinitis pigmentosa (XLRP) and achromatopsia (ACHM)
Note: This data of patient health information will be based on a patient’s regularly scheduled eyecare provider (ECP) appointments.
What’s the significance of the registry for IRDs?
It represents potential, according to the company.
More specifically, the potential to provide more insight into IRDs based on the registry’s ability to collect real-world data (RWD) on disease progression and patient experiences for potential future treatments
Speaking of insights … any new IRD research to know about?
Yes, actually! J&J also presented data on the economic value of early genetic testing in IRD diagnosis.
The investigation: Researchers performed a retrospective, observational, claims-based study to evaluate “all-cause healthcare costs for early vs delayed genetic testing” in IRD patients.
Give me the details.
The study enrolled a total of 536 adult patients (mean age of 55) with an International Classification of Diseases (ICD)-10 diagnosis code for ocular/retinal disorders between Jan. 1, 2017, and June 30, 2023.
Note: Index date was the date of first observed ocular/retina disorder claim
The setup: Participants were split into two groups, with the early testing group (n = 270) based on whether the first genetic test was within 12 months post-index date.
- If not: Patients were placed in the delayed testing group (n =266).
- The difference in time between the groups: 116 vs 805 days
And what was assessed?
Investigators examined the “all-cause resource utilization”—otherwise known as billable or available working hours—and “associated costs that occurred in medical and pharmacy claims from the index date to the test date.”
What did they find?
Based on evaluation, early testing group participants “incurred mean total all-cause costs of $13,084 (Standard Deviation [SD] ±30,912).”
Of that, 88.7% were attributed to medical costs.
And in the delayed testing group?
The data found those patients incurred 5 times higher mean “total all-cause costs of $76,838 (SD ±116,372).”
Of that, 82.9% were a result of medical services (such as visiting physicians).
Conclusion?
The study authors summarized that, as genetic testing is often delayed due to cost or a lack of awareness, early testing could prove beneficial for helping improve IRD diagnosis and overall healthcare costs.