Free Paper Focus: More equitable access needed for patients with IRDs

Patients with inherited retinal diseases (IRDs) do not have equitable access to best practice genetic testing and counselling services, according to the results of a global survey presented at the 22nd EURETINA Congress.

Greater awareness and training is needed among eye care professionals about inherited retinal degenerations, and the benefits of genetic testing and genetic counselling for patients and families,” said Nabin Paudel PhD.

Dr Paudel presented the results of an online survey conducted by Retina International and including IRD patients and their families living in different regions around the world. Questions related to the accessibility, affordability and timeliness of genetic services for IRDs.

Of the 410 IRD patients and caregivers from over 30 countries that responded, 32% had to visit more than 5 physicians, 21% had to visit more than 5 clinics, and 57% had to wait for more than 3 years before obtaining a genetic diagnosis. Some 36% of the respondents said that their eye care professionals were either not aware of genetic testing, remained neutral or did not encourage patients to go for genetic testing.

Obtaining a genetic diagnosis via genetic testing is a fundamental step in determining the eligibility of a patient to be enrolled in emerging clinical trials and research studies, noted Dr Paudel.

The knowledge of genetic outcome also allows patients to plan for significant life choices. A best practice model on access to genetic testing and counselling services for IRDs is clearly needed,” he added.

All registered attendees will be able to view this presentation via playback on the virtual platform.