Study shows genetic testing has reduced time from symptom onset to IRD diagnosis
A single-center, retrospective study observed a significant reduction in time from visual symptom onset to clinical diagnosis of inherited retinal disease (IRD), which the authors attributed to increased availability of no-cost genetic testing and increased awareness of IRD. The findings of the study were presented at the 2024 ARVO Annual Meeting in Seattle, Washington.
Patients (n=198) were seen for an initial visit at a regional IRD referral clinic between 2020 and 2023 and self-reported age of symptom onset and diagnosis, IRD diagnosis, year of genetic testing, and genetic result.
The average age for visual symptom onset was 27.9 years (range, 0.76), and the age at clinical IRD diagnosis was 35.0 years (range, 0-81). The average age at genetic testing was 44.6 years (range, 0-82).
For symptomatic patients, the average time to diagnosis was 6.2 years (range, 0-65), and the average time from diagnosis to genetic testing was 9.6 years (range, 0-65).
Researchers then assessed time to diagnosis during different periods. A total of 90 patients received an IRD diagnosis from 1957 to 2017 (early cohort), while 108 were clinically diagnosed in 2018 or later.
For the earlier cohort, the average time from symptom onset to diagnosis was 22.9 years compared with 8.7 years for the later cohort. The average time from diagnosis to genetic testing was 20.9 years in the earlier cohort and less than a year (0.3 years) in the later cohort, indicating “significantly shorter times to clinical diagnosis (P<.001) and genetic testing (P<.001) for those diagnosed in 2018 or later,” the authors shared.
Diagnostic yield for genetic testing was 61.5%, with no significant difference in solve rate for the earlier versus later diagnostic cohorts.
“This study demonstrates a significant reduction in time from visual symptom onset to clinical IRD diagnosis and from diagnosis to genetic testing in recent years,” the researchers concluded.
Reference
Wagner NE, Borooah S. Significant reduction in time to clinical diagnosis and genetic testing for inherited retinal disease patients in the past five years. Abstract 5300-B0192. Presented at the Association for Research in Vision and Ophthalmology 2024 Annual Meeting, May 5-9, Seattle, Washington.
