{Reference Type}: Journal Article
{Title}: The Landscape of Genomic Services for Inherited Retinal Degenerations (IRDs) Across Europe.
{Author}: Paudel N;Daly A;Moran EM;Stratieva P;
{Journal}: Clin Ophthalmol
{Volume}: 18
{Issue}: 0
{Year}: 2024
暂无{DOI}: 10.2147/OPTH.S465930
{Abstract}: <B>UNASSIGNED: </B>To map the existing genomic services available for patients with IRDs across Europe.<BR><B>UNASSIGNED: </B>A survey was conducted to 24 ophthalmic and/or genetic specialists across 19 European countries. The survey was conducted in an interview style via zoom for participants from 17 out of 19 countries. Interviewees were clinical/medical/ophthalmic geneticists, ophthalmologists/retina specialists and internal medicine specialists. The survey focused on referral pathways, genetic counseling, insurance coverage, awareness of genetic testing and counseling for IRDs among practitioners and patients, and preferred testing methodologies.<BR><B>UNASSIGNED: </B>Genomic services (testing and counselling) for IRDs vary among countries from an awareness, availability and insurance coverage perspective. Affordability could be a barrier for patients in countries without any payment scheme (eg, Poland) and in countries where only a targeted population is covered (eg, Bulgaria). Genetic counseling via qualified genetic counsellors did not exist in many countries. The level of awareness regarding the benefits of genetic testing in IRDs among healthcare professionals (HCPs) and patients was perceived as low in some countries. Panel-based next-generation sequencing (NGS) was the first test of choice for genetic testing in 68% of the studied countries.<BR><B>UNASSIGNED: </B>There is some disparity in the approach to genetic testing for IRDs across Europe. Greater awareness of genetic testing services is required among the eye care professional community. A revised approach to the provision of genetic testing services such as centralized free genetic testing with associated interpretation and genetic counselling may help in ensuring equitable access and reimbursement, which will empower patients through improved access to clinical trials, expedite innovation, improve access to therapy and the delivery of care.