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

Orphanet Journal of Rare Diseases

Andrea Sodi¹  Elfride De Baere²  João Pedro Marques³  Gita Taurina⁴  Katarzyna Nowomiejska⁵  Frans P. M. Cremers⁶  Lonneke Haer-Wigman⁶  Petra Liskova⁷  Caroline Van Cauwenbergh⁸  Bart P. Leroy⁹  Dorothée Leroux^1,10  Hélène Dollfus^1,11  Artur Klett^1,12  Marius Sukys^1,13  Susanne Kohl^1,14  Graeme C. Black^1,15  Panagiotis Sergouniotis^1,15  Karen Grønskov^1,16 

[1] Azienda Ospedaliero Universitaria Careggi, Firenze, Italy;Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium;Centro Hospitalar E Universitário de Coimbra (CHUC), Coimbra, Portugal;Children’s Clinical University Hospital, Riga, Latvia;Department of General Ophthalmology, Medical University, Lublin, Poland;Department of Human Genetics, Radboudumc, Nijmegen, Netherlands;Department of Ophthalmology, General University Hospital in Prague, Prague, Czech Republic;Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium;Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium;Department of Head and Skin, Ghent University, Ghent, Belgium;Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium;Division of Ophthalmology and Center for Cellular and Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA;ERN-EYE Coordination Center, Hopitaux Universitaires de Strasbourg, Strasbourg, France;ERN-EYE Coordination Center, Hopitaux Universitaires de Strasbourg, Strasbourg, France;CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France;U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France;East Tallinn Central Hospital, Tallinn, Estonia;Hospital of Lithuanian, University of Health Science, Kauno Klinikos, Lithuania;Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany;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;Rigshospitalet, Glostrup, Denmark;

关键词: Genetic and genomic testing;    Rare eye diseases;    ERN-EYE;    Position statement;   

DOI  :  10.1186/s13023-021-01756-x

来源: Springer

【 摘 要 】

BackgroundRare 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 bodyTechnological 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 conclusionDespite 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.

【 授权许可】

CC BY