Genetic Testing Experiences of People Living with Inherited Retinal Degenerations: Results of a Global Survey.

This study explored the experiences of people with inherited retinal diseases (IRDs) and their families when trying to access genetic testing and counselling. Responses from 410 participants across more than 30 countries revealed significant barriers, including long waits for diagnosis, multiple visits to doctors and clinics, and limited access to genetic counselling before and after testing. Many participants also reported that eye care professionals lacked awareness of or did not encourage genetic testing. The findings highlight the need for better professional training, improved access to genetic services and more consistent support for patients and families worldwide.

Nabin Paudel, Avril Daly, Fiona Waters, Petia Stratieva; Genetic Testing Experiences of People Living with Inherited Retinal Degenerations: Results of a Global Survey. Ophthalmic Res 24 May 2024; 67 (1): 201–210. https://doi.org/10.1159/000537818

Published Karger: Ophthalmic Res February 17 2024