Manchester Centre for Genomic Medicine, Saint Mary's Hospital and Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, Manchester University Hospitals NHS Foundation Trust, Manchester, UK.
Azienda Ospedaliero Universitaria Careggi, Firenze, Italy.
Orphanet J Rare Dis. 2021 Mar 20;16(1):142. doi: 10.1186/s13023-021-01756-x.
Rare Eye Diseases (RED) are the leading cause of visual impairment and blindness for children and young adults in Europe. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa to very rare entities such as developmental eye anomalies. A significant number of patients with RED have an underlying genetic etiology. One of the aims of the European Reference Network for Rare Eye Diseases (ERN-EYE) is to facilitate improvement in diagnosis of RED in European member states.
Technological advances have allowed genetic and genomic testing for RED. The outcome of genetic testing allows better understanding of the condition and allows reproductive and therapeutic options. The increase of the number of clinical trials for RED has provided urgency for genetic testing in RED. A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, there is significant variability, particularly regarding testing as part of clinical service. Some countries have a well-delineated rare disease pathway and have a national plan for rare diseases combined or not with a national plan for genomics in medicine. In other countries, there is a well-established organization of genetic centres that offer reimbursed genomic testing of RED and other rare diseases. Clinicians often rely upon research-funded laboratories or private companies. Notably, some member states rely on cross-border testing by way of an academic research project. Consequently, many clinicians are either unable to access testing or are confronted with long turnaround times. Overall, while the cost of sequencing has dropped, the cumulative cost of a genomic testing service for populations remains considerable. Importantly, the majority of countries reported healthcare budgets that limit testing.
Despite technological advances, critical gaps in genomic testing remain in Europe, especially in smaller countries where no formal genomic testing pathways exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure access. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.
罕见眼病（RED）是欧洲儿童和青年视力损害和失明的主要原因。这组异质性疾病包括超过 900 种疾病，从相对常见的疾病如色素性视网膜炎到非常罕见的疾病如眼部发育异常。相当数量的 RED 患者存在潜在的遗传病因。欧洲罕见眼病参考网络（ERN-EYE）的目标之一是促进欧洲成员国 RED 的诊断改进。
技术进步使得 RED 的基因和基因组检测成为可能。基因检测的结果可以更好地了解病情，并提供生殖和治疗选择。RED 的临床试验数量增加，使得 RED 的基因检测变得紧迫。对参与 ERN-EYE 的国家进行的一项调查表明，大多数国家都能够获得某些形式的基因组检测。然而，存在显著的差异，特别是在作为临床服务一部分的检测方面。一些国家有明确划定的罕见病途径，并制定了罕见病国家计划，或者结合了医学基因组国家计划。在其他国家，有一个成熟的遗传中心组织，提供 RED 和其他罕见病的报销基因组检测。临床医生通常依赖于研究资助的实验室或私人公司。值得注意的是，一些成员国依赖于通过学术研究项目进行跨境检测。因此，许多临床医生要么无法进行检测，要么面临漫长的周转时间。总的来说，尽管测序成本有所下降，但为人群提供基因组检测服务的总费用仍然相当可观。重要的是，大多数国家报告称医疗保健预算限制了检测。
尽管技术有所进步，但欧洲在基因组检测方面仍存在重大差距，特别是在没有正式基因组检测途径的较小国家。即使在较大的国家，现有的安排也不足以满足需求并确保获得检测。ERN-EYE 促进了 RED 基因检测的获取，并强调了 RED 基因检测的临床需求和相关性。
