PDF(Pubmed)
Abstract：
UNASSIGNED: To map the existing genomic services available for patients with IRDs across Europe.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
UNASSIGNED: 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.
摘要：
■绘制可用于整个欧洲的IRD患者的现有基因组服务。
■对19个欧洲国家的24名眼科和/或遗传专家进行了调查。该调查是通过缩放方式对来自19个国家中的17个国家的参与者进行的采访方式进行的。受访者是临床/医学/眼科遗传学家，眼科医生/视网膜专家和内科专家。调查的重点是转诊途径，遗传咨询,保险范围，从业人员和患者对IRD基因检测和咨询的认识，和首选的测试方法。
■针对IRDs的基因组服务（检测和咨询）因国家/地区的认识而异，可用性和保险范围的观点。对于没有任何支付计划的国家的患者来说，负担能力可能是一个障碍(例如，波兰)和仅覆盖目标人群的国家(例如，保加利亚)。通过合格的遗传咨询师的遗传咨询在许多国家都不存在。在一些国家，医疗保健专业人员（HCPs）和患者对IRD基因检测益处的认识水平被认为很低。基于小组的下一代测序（NGS）是68％的研究国家的首选基因测试。
■整个欧洲的IRD基因检测方法存在一些差异。眼保健专业社区需要提高对基因检测服务的认识。经修订的提供基因检测服务的方法，如集中免费基因检测和相关口译和遗传咨询，可能有助于确保公平获得和偿还，这将使患者能够更好地获得临床试验，加快创新,改善获得治疗和提供护理的机会。
■对19个欧洲国家的24名眼科和/或遗传专家进行了调查。该调查是通过缩放方式对来自19个国家中的17个国家的参与者进行的采访方式进行的。受访者是临床/医学/眼科遗传学家，眼科医生/视网膜专家和内科专家。调查的重点是转诊途径，遗传咨询,保险范围，从业人员和患者对IRD基因检测和咨询的认识，和首选的测试方法。
■针对IRDs的基因组服务（检测和咨询）因国家/地区的认识而异，可用性和保险范围的观点。对于没有任何支付计划的国家的患者来说，负担能力可能是一个障碍(例如，波兰)和仅覆盖目标人群的国家(例如，保加利亚)。通过合格的遗传咨询师的遗传咨询在许多国家都不存在。在一些国家，医疗保健专业人员（HCPs）和患者对IRD基因检测益处的认识水平被认为很低。基于小组的下一代测序（NGS）是68％的研究国家的首选基因测试。
■整个欧洲的IRD基因检测方法存在一些差异。眼保健专业社区需要提高对基因检测服务的认识。经修订的提供基因检测服务的方法，如集中免费基因检测和相关口译和遗传咨询，可能有助于确保公平获得和偿还，这将使患者能够更好地获得临床试验，加快创新,改善获得治疗和提供护理的机会。
