The Landscape of Genomic Services for Inherited Retinal Degenerations (IRDs) Across Europe
Here are the key takeaways:
- There is disparity in the approach to genetic testing for IRDs across Europe
- Greater awareness of genetic testing is required amongst eye care professionals
- A revised approach to the provision of genetic testing services is required. This should include centralised free genetic testing with accompanying genetic counselling.
This study surveyed 24 IRD eye care professionals on referral pathways, genetic counselling, insurance coverage, awareness of genetic testing and counselling and preferred testing methodologies:
- Genomic services for IRDs vary among EU countries in terms of awareness, availability and insurance coverage
- Genetic counselling does not exist in some countries
- The level of awareness regarding the benefits of genetic testing in IRDs among both health care professionals and patients was low in some countries.