Ophthalmologist-led model speeds up diagnosis for inherited retinal diseases
Transitioning to an ophthalmologist-led clinical model for suspected inherited retinal diseases (IRDs) significantly improves the speed and accessibility of molecular diagnosis compared to the traditional general medical genetics approach, according to a study.
The study compared outcomes between patients referred to a general medical genetics clinic (n = 212) and those referred to an ophthalmologist-led IRD clinic (n = 261).
Patients referred to the ophthalmologist-led clinic experienced significantly shorter wait times for initial consultations and genetic testing results.
On average, the time from referral to the first consultation was reduced from 14 months in the general medical genetics clinic to 4 months in the ophthalmologist-led clinic, and in addition, the time from initial consultation to genetic result disclosure and counseling decreased from 6 months to 3.5 months. Overall, the total time from referral to genetic counseling and disclosure was reduced from 20-24 months in the traditional model to just 5-8 months in the new ophthalmologist-led model.
The study concludes that this shift to an ophthalmologist-led IRD clinical model could significantly enhance the efficiency of diagnosis and treatment, potentially accelerating access to gene therapy trials for patients with suspected IRDs.
Reference
Yin GS, Shao Z, Faghfoury H, et al. Streamlined Ophthalmologist-Led Pathway to Diagnosis and Accessibility of Genetics Testing for Patients with Inherited Retinal Dystrophies in Canada. Ophthalmol Retina. 2024 Aug;S2468-6530(24)00367-1. doi: 10.1016/j.oret.2024.08.007. Epub ahead of print. PMID: 39154861.
