Paudel Nabin, Daly Avril, Moran Ellen Margaret, Stratieva Petia
Retina International, Dublin, Ireland.
Clin Ophthalmol. 2024 Aug 7;18:2217-2224. doi: 10.2147/OPTH.S465930. eCollection 2024.
To map the existing genomic services available for patients with IRDs across Europe.
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.
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.
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.
绘制欧洲范围内为IRD患者提供的现有基因组服务情况。
对19个欧洲国家的24位眼科和/或遗传学专家进行了一项调查。对于19个国家中的17个国家的参与者，通过Zoom以访谈形式进行了调查。受访者包括临床/医学/眼科遗传学家、眼科医生/视网膜专家和内科专家。该调查重点关注转诊途径、遗传咨询、保险覆盖范围、从业者和患者对IRD基因检测和咨询的认知度，以及首选的检测方法。
从认知度、可及性和保险覆盖范围来看，各国针对IRD的基因组服务（检测和咨询）存在差异。在没有任何支付计划的国家（如波兰）以及仅覆盖特定人群的国家（如保加利亚），可负担性可能成为患者的障碍。许多国家不存在由合格遗传咨询师提供的遗传咨询服务。在一些国家，医疗保健专业人员（HCP）和患者对IRD基因检测益处的认知水平被认为较低。在68%的被研究国家中，基于面板的下一代测序（NGS）是基因检测的首选检测方法。
欧洲各国在IRD基因检测方法上存在一些差异。眼科护理专业群体对基因检测服务的认知度需要提高。修订后的基因检测服务提供方式，如集中免费基因检测及相关解读和遗传咨询，可能有助于确保公平获取和报销，这将通过改善临床试验的参与机会增强患者能力、加速创新、改善治疗获取和护理提供。
