Supplementary Material for: Genetic testing experiences of people living with inherited retinal degenerations (IRDs) – results of a global survey

Introduction:
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. Besides, the knowledge of genetic outcome allows patients to plan for significant life choices. However, critical barriers exist to an equitable access to genetic services globally. The objective of this study is to explore patient experiences while seeking genomic services for IRDs.
Methods:
An online survey was designed based on a focus group conducted by Retina International and including people affected by IRD and their families living in different regions around the world. The survey was then circulated to 43 Retina International member organizations globally via email newsletters and social networks. The survey involved questions in relation to the accessibility, affordability, and timeliness of genomic services for IRDs as well as patient perceived awareness of genomic services for IRDs among health care professionals.
Results:
A total of 410 respondents (IRD patients and caregivers) from over 30 countries across all continents responded to the survey. A considerable number of the patients had to go through a long and arduous journey to access genetic testing and counselling services wherein 40% had to visit more than 5 physicians, 27% had to visit more than 5 clinics and 57% had to wait for more than 3 years before obtaining a genetic diagnosis. Furthermore, 46% of respondents reported not receiving genetic counselling prior to undergoing genetic testing and 39% not receiving genetic counselling after undergoing genetic testing. Over 3/4th of the participants reported that they did not have to pay for their genomic services for IRD. Thirty seven percent of the respondents reported that their eye care professionals were either not aware of genetic testing, remained neutral or did not encourage them to undergo genetic testing.
Conclusion:
Patients with IRDs do not have equitable access to best practice genetic testing and counselling services. Greater awareness and training regarding inherited retinal degenerations and the benefits of genetic testing and genetic counselling for patients and families is needed among eye care professionals. A best practice model on access to genomic services for IRDs is required.