The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement

Abstract

Background 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. Main body 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. Short conclusion 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.

Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy

“…The stepwise procedure we describe here is a way of increasing genetic diagnostic sensitivity to assign a genetic diagnosis to most patients as shown by Stone at al., 2017 [32]. Comprehensive genetic testing in rare eye disorders (RED) is promoted by the ERN-EYE network, who emphasize the clinical need and relevance of genetic testing in RED [69].…”

The utility of genomic testing in the ophthalmology clinic: A review

“…Access to genomic testing and models for providing such services with a standardised approach varies significantly between jurisdictions, 16 but it has been demonstrated, using IRDs as a model, that genomic testing can be integrated into care pathways 17 . A key feature of the model used in that study was the use of multi‐disciplinary clinics including ophthalmologists, genetic counsellors and eye clinic liaison officers.…”

“…Similar models have been used in the non‐ophthalmic setting 18,19 with key features being the multi‐disciplinary approach to diagnosis of complex cases. The European Reference Network for Rare Eye Diseases recognises the benefits of genomic testing, including improved understanding of the condition along with reproductive and therapeutic options 16 . However, in many jurisdictions, studies directed towards quantifying the medical and economic benefits of genomic testing specifically for eye disease will be needed to direct the changes required for widespread implementation of genomic testing in the ophthalmology setting 16 …”

Hereditäre Netzhautdystrophien aufgrund von RPE65-Varianten: Von der genetischen Diagnostik zur Therapie

“…Das in dieser Arbeit beschriebene schrittweise Verfahren ist ein Weg, um die Sensitivität der genetischen Diagnostik zu erhöhen und für die meisten Patienten eine genetische Diagnose stellen zu können wie von Stone et al 2017 gezeigt [32]. Für umfassende Gentests bei seltenen Augenkrankheiten setzt sich auch das ERN-EYE-Netzwerk ein, das die klinische Notwendigkeit und Relevanz von Gentests bei diesen Erkrankungen betont [69].…”