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

Orphanet Journal of Rare Diseases volume 16, Article number: 142 (2021) Cite this article

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.

Background

Technological advances have allowed genetic and genomic testing for Rare Eye Diseases (RED). The outcome of genetic testing allows better understanding of RED and allows reproductive and therapeutic options. Despite these advances critical gaps in testing remain in European member states, especially in smaller countries. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure equity of access. The European Reference Network (ERN) initiative, a cross-border cooperation between healthcare providers and researchers from across the European Union, has been created to improve diagnosis and treatment of complex or rare medical conditions that require specialised treatment, knowledge and resources [1]. ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.

Main text

There are 24 thematic ERNs, including ERN-EYE, whose focus is on RED [2]. The ERNs seek to aggregate healthcare providers in order to improve patient access to healthcare information and thereby increase treatment options. They aim to do this by (i) creating innovative care models, in particular using digital technologies, (ii) enhancing research through the increase of the size and power of clinical studies as well as epidemiological registries and (iii) enabling sharing of costly resources which ultimately leads to more sustainable national healthcare systems. The overarching objective is to improve health outcomes for the large numbers of patients in the EU suffering from rare and often complex conditions.

RED are the leading cause of visual impairment and blindness for children and young adults in Europe [3, 4]. This heterogeneous group of conditions includes over 900 disorders ranging from relatively prevalent disorders such as retinitis pigmentosa (estimated prevalence of 1 in 4,000) to very rare entities described only once or twice in medical literature [5]. ERN-EYE is structured around 4 clinical thematic working groups (Retina, Neuro-ophthalmology, Paediatric, Anterior segment) and 6 transversal working groups (Low vision, Genetic diagnostic, Registries, Research, Education / Training, Communication) [2]. Notably, the ERN-EYE has organised workshops on diverse areas ranging from clinical terminology standardisation (Mont Sainte-Odile workshop, 2017) to genomic testing (Florence workshop, 2018) and clinical trials (Strasbourg workshop, 2019) [6].

The advance towards personalization of medicine is accelerating [7]. For rare diseases, including RED, there is now a general understanding that patients often experience delayed diagnosis, which in turn leads to poor access to appropriate treatment and management protocols. For RED, a significant number of patients have an underlying genetic etiology. Effective and individualized approaches to clinical management are consequently dependent upon a comprehensive means of delivering genetic or genomic testing [8]. Genomic testing allows a precise diagnosis of highly heterogeneous disorders, improves counselling (e.g. understanding prognosis; facilitating reproductive decision-making) and is increasingly important in directing treatment options [9].

Genomic approaches can improve diagnosis and management of RED

There are now numerous examples demonstrating clinical benefit of genomic testing in RED. For example, for oculocutaneous albinism, genetic diagnostic approaches provide a positive diagnosis in over 75% of cases. This not only achieves a diagnosis in early life for individuals with reduced vision but also allows identification of syndromic forms including the 1 in 30 cases of apparently uncomplicated albinism that represent unsuspected cases of Hermansky-Pudlak syndrome implying specific surveillance and care [10].

Leber Congenital Amaurosis (LCA) is the earliest onset and most severe form of inherited retinal diseases (IRD) [11]. This group of conditions is caused by genetic alterations in over 20 genes and is also the field where most clinical research is performed to date [12,13,14]. Some examples are given where comprehensive genomic testing leads to a molecular diagnosis and offers therapeutic perspectives. A first example are pathogenic variants in the RPE-specific gene RPE65 encoding a protein member of the visual cycle that regenerates retinal. The recent FDA and EMA approval of voretigene neparvovec-rzyl for the treatment of LCA patients with biallelic RPE65 mutations, as a landmark of novel gene-directed therapy, paved the way for successful treatment [15,16,17,18]. A second example is a recurrent deep-intronic pathogenic variant in CEP290, a gene encoding a key component of the connecting cilium. There are promising clinical studies suggesting potential for intravitreally delivered antisense oligonucleotide (AON) therapy and for gene editing using CRISPR/Cas9 [19,20,21]. Pathogenic variants in CEP290 and other cilia-related genes (e.g. IQCB1) can predispose for multi-systemic complications including renal failure [22, 23]. Other examples requiring an early diagnosis are AILP1- and GUCY2D-associated LCA given the ongoing therapeutic efforts [24,25,26,27].

Moreover, CLN3-associated Batten disease, first diagnosed by ophthalmologists, is another example where early diagnosis is critical to direct management, counseling, and support for young patients and their families. The systemic therapeutic options for this disease in early-phase clinical trial benefit from a start at the earliest stage of disease [28, 29].

Other examples are pathogenic variants identified in disease genes implicated in achromatopsia [30], choroideremia [31], Stargardt disease (STGD1), X-linked retinitis pigmentosa and other IRD [33, 34] that are eligible for the huge range of clinical trials being undertaken currently [12,13,14]. Specifically, rare and recurrent deep-intronic pathogenic variants (total: 355) in ABCA4 associated with STGD1 in ~10% of cases allow the design of novel RNA splice modulation therapies using AONs [35,36,37].

Patient groups, clinicians and scientists together recognize an urgent need for widespread availability of genomic testing for RED to avoid the so-called ‘diagnostic odyssey’ - an extended and distressing period, often unsuccessful, characterised by multiple sequential investigations. By providing a definitive molecular diagnosis this can strongly facilitate clinical and personal decision-making [38, 39].

What is the current picture of genomic testing in RED?

Adoption of genomic testing for RED has accelerated considerably over the past 10 years due to the availability of ‘next generation sequencing’ (NGS), a technological advance allowing massively parallel sequencing of multiple nucleic acid targets [38]. This technique is increasingly being deployed in the clinical diagnostic setting and it has allowed affordable analysis of complete genomes [40, 41].

A survey of countries participating in ERN-EYE demonstrated that the majority are able to access some forms of genomic testing. However, access is still far from universal and there is significant variability of delivery, particularly in the degree to which different countries are able to provide testing as part of clinical service. It is not uncommon for clinicians to have to rely partly or completely upon either research-funded laboratories (for example in the Czech Republic) or private companies. Notably, some member state relies mainly on cross-border testing either by way of an academic research project. For example, research-based sequencing of the entire ABCA4 gene for variants associated with STGD1 in the Netherlands and Belgium has yielded bi-allelic variants in ~500 probands ascertained worldwide, including many undiagnosed families from Eastern European countries [35,36,37]. Currently 2,000 STGD1 and STGD-like maculopathy probands have been sequenced for mutations in ABCA4 and PRPH2, solving ~50% of the cases.

In the US, Invitae has announced a free sequencing service for RED probands from the US based on a partnership with Spark Therapeutics [41]. The Foundation Fighting Blindness, in partnership with Blueprint Genetics and InformedDNA, offers free genetic testing and counselling to individuals living in the US or US territories and clinically diagnosed with an IRD [42].

In Europe, some countries have a very well delineated rare disease pathway (summarized in Table 1). In France for example, there is a long-standing national centralized organizational plan for rare diseases (Plan National Maladies Rares) [43] now combined with a centralized national plan for genomics in medicine (Plan France Médecine Génomique) [44]. In the UK, a small number of Genomic Laboratory Hubs and a highly productive national initiative (100,000 Genomes; Genomic England) allow relatively frictionless access to testing [45]. In Belgium and the Netherlands there is a well-established organization of genetic centres with good access to reimbursed genomic testing of RED and other rare diseases. In Germany, academic genetic centres, private genetic laboratories but also industrial laboratories offer this service. Other member states such as Italy rely on regional organisation where University centres have, over time, developed significant expertise in specific RED fields.

Table 1 Rare disease pathway summary and access to genetic testing by country
Full size table

Within this overall picture, critical gaps in testing remain, especially in a number of smaller countries where no formal genomic testing structures exist. Notably, even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure equity of access. Consequently, across the EU there are large numbers of clinicians and affected families who are either unable to access testing or who have to wait for considerable periods of time to receive results. Overall, while the cost of genomic sequencing has dropped at an extraordinary rate over the past decade, the cumulative cost of providing a comprehensive genomic testing service for populations remains considerable. Importantly, the majority of EU countries reported healthcare budgets that limit testing despite the fact that increase in demand (i.e. numbers of patients requiring testing) is inevitable [46].

Clinical utility: making the argument to justify genomic testing

It is perhaps not surprising that translation of clinical, technological and research advances into routine healthcare is slow. Undoubtedly, the adoption of a clinically relevant intervention—in this case, genomic testing—is more likely where its ability to influence management and health outcomes has been clearly demonstrated. Therefore, a focus on clinical benefit (‘clinical utility’) of genomic testing remains an urgent requirement to provide a clear evidence for widespread implementation [47, 48]. To date, compiling such evidence for RED has been slow. However, evidence of clinical utility has been demonstrated for small groups of patients [49,50,51,52,53]. Additional, well-designed studies of broader scale are becoming available [7, 54].

Training and mainstreaming of genomic medicine

Genomic testing is only one of the barriers that exist for effective diagnosis and management for individuals with RED. It is clear that the number of healthcare professionals and genetic counsellors who specialise in ophthalmic genetics is another important limiting factor, even in settings where genomic testing is readily available. Notably, at present, care for families with RED is generally delivered by a few “super-specialists” in ophthalmic genetics who work within a relatively small number of academic centres. Given the cumulative prevalence and overall number of RED, and the increasing recognition of clinical need, this dependence of small groups of experts is likely to be unsustainable.

Broadening access to genomic testing will require an expansion of the group of clinicians who are willing and able to order such diagnostic tests. Since this requires specialist knowledge, training of a wider group of clinicians at all strata of seniority will be necessary. While in the longer term this sits within medical schools and professional curricula, in the shorter term it will be critical to provide professional development that enables up-skilling of existing clinical workforces. There will be different levels of skills required for different groups of clinicians. Paediatric ophthalmologists and medical retina specialists who encounter RED more frequently are perhaps the first who need to acquire these new skills and to enhance their understanding of the care pathways, consent issues and utilisation of genomic knowledge in clinical management. However, it is expected that in the not-so-distant future, broader applications of genomic medicine such as pharmacogenetics and complex genetics will be increasingly important to all clinicians.

Technological advances of DNA sequencing technologies have tremendously expanded the ability of healthcare systems to diagnose RED. This gives great hope to affected families. Harnessing the motivating power of patient groups and hearing the patient voice is critical in promoting systematic change in healthcare provision. The ERN-EYE initiative has been strongly influenced by patient bodies and advocates. These interactions have greatly enhanced our understanding of how a definitive genetic diagnosis can promote closure, lead to early resolution of uncertainty, allow better understanding of the condition and, crucially, inform reproductive and life planning. However, ultimately, implementation of such advanced diagnostic strategies will require considerable increased investment. Thus, there is an urgent need for professionals to provide broad evidence of clinical benefit and utility. The extraordinary acceleration in the number of clinical trials for RED in general and for inherited retinal disorders in particular, has provided considerable urgency and impetus.

Conclusions

  • Technological advances have allowed genomic testing for RED.

  • Despite these advances critical gaps in testing remain, especially in smaller countries where no formal genomic testing structures exist. Even within larger countries, the existing arrangements are insufficient to meet the demand and to ensure equity of access.

  • 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 considerable urgency for genetic testing in RED.

  • ERN-EYE promotes access to genetic testing in RED and emphasizes the clinical need and relevance of genetic testing in RED.

Availability of data and materials

The datasets used and/or analysed during the current study are available from the corresponding author on reasonable request.

Abbreviations

ASO:

Antisense oligonucleotide

Cas9:

CRISPR associated protein 9

CRISPR:

Clustered Regularly Interspaced Short Palindromic Repeats

EMA:

European Medicines Agency

ERN:

European Reference Network

ERN-EYE:

European Reference Network for Rare Eye Diseases

FDA:

Food and Drug Administration

LCA:

Leber Congenital Amaurosis

IRD:

Inherited Retinal Diseases

RED:

Rare Eye Diseases

STGD1:

Stargardt disease type 1

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Acknowledgements

ERN-EYE study group: Gavin Arno (University College, London, UK) ; Jane Ashworth (Manchester NHS Foundation Trust, Manchester, UK) ; Isabelle Audo (Institut De La Vision/CHNO XV-XX, Paris, France) ; Giacomo Bacci (Azienda Ospedaliero Universitaria Meyer, Florence, Italy) ; Vilma Jurate Balciuniene (Hospital of Lithuanian University of Health Science, Kauno Klinikos, Lithuania) ; Sara Bargiacchi (Azienda Ospedaliero Universitaria Meyer, Florence, Italy) ; Mette Bertelsen (Rigshospitalet, Glostrup, Denmark) ; Graeme Black (Manchester NHS Foundation Trust, Manchester, UK) ; Camiel Boon (Leiden University Medical Center / Acedemic Medical Center Amsterdam, Netherlands) ; Dominique Bremond-Gignac (Hôpital Necker-Enfants Malades, Paris, France) ; Luca Buzzonetti (Bambino Gesù children's hospital, Roma, Italy) ; Patrick Calvas (CHU de Toulouse, Toulouse, France) ; Anne Cambon Thomsen (CHU de Toulouse, Toulouse, France) ; Adela Chirita-Emandi (Department of Genetics of the University of Medicine, Timisoara, Romania) ; Davit Chokoshvili (University of Leuven (KU Leuven), Leuven, Belgium) ; Frans Cremers (Department of Human Genetics, Radboudumc, Nijmegen, Netherlands) ; Avril Daly (Retina International) ; Hélène Dollfus (Hôpitaux Universitaires de Strasbourg, France) ; Susan Downes (Oxford University Hospitals NHS Foundation Trust, Oxford, UK) ; Adriano Fasolo (Azienda ULSS 3 Serenissima—Ospedale dell'Angelo Mestre- Fondazione Banca degli Occhi del Veneto,Venezia, Italy) ; Christina Fasser (ERN-EYE ePAG) ; Dominik Fischer (Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany) ; Pina Fortunato (Azienda Ospedaliero Universitaria Meyer, Florence, Italy) ; Arvydas Gelzinis (Hospital of Lithuanian University of Health Science, Kauno Klinikos, Lithuania) ; Karen Grønskov (Rigshospitalet, Glostrup, Denmark) ; Lonneke Haer-Wigman (Department of Human Genetics, Radboudumc, Nijmegen, Netherlands) ; Georgina Hall (Oxford University Hospitals NHS Foundation Trust, Oxford, UK) ; Steffen Hamann (Rigshospitalet, Glostrup, Denmark) ; Elise Héon (Hospital for Sick Children, Toronto, Canada) ; Giancarlo Iarossi (Azienda ULSS 3 Serenissima—Ospedale dell'Angelo Mestre- Fondazione Banca degli Occhi del Veneto,Venezia, Italy) ; Caroline Iberg (Hôpitaux Universitaires de Strasbourg, France) ; Gaëlle Jouanjan (ERN-EYE ePAG) ; Helena Kaariainen (National Institute for Health and Welfare, Helsinki, Finland) ; Kamron Kahn (St. James's University Hospital, Leeds, UK) ; David Keegan (Mater Misericordiae University Hospital, Dublin, Ireland) ; Artur Klett (East Tallinn Central Hospital/Strasbourg University Hospital, Tallinn, Estonia) ; Susanne Kohl (Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany) ; Michael Laengsfeld (ERN-EYE ePAG) ; Alberta Leon (Azienda Ospedaliera Universitaria, Padova, Italy) ; Dorothée Leroux (Hôpitaux Universitaires de Strasbourg, France) ; Bart Peter Leroy (Ghent University Hospital, Ghent, Belgium) ; Petra Liskova (General University Hospital, Prague, Czech Republic) ; Birgit Lorenz (Universitätsklinikum Gießen und Marburg GmbH, Giessen, Germany) ; Riccardo Maggi (Bambino Gesù children's hospital, Roma, Italy) ; Joao Pedro Marques (Centro Hospitalar e Universitário de Coimbra (CHUC), Coimbra, Portugal) ; Laura Mauring (East Tallinn Central Hospital/Strasbourg University Hospital, Tallinn, Estonia) ; Paolo Melico (AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy) ; Isabelle Meunier (CHU Montpellier, Montpellier, France) ; Saddek Mohand-Saïd (CHNO XV-XX, Paris, France) ; Cristina Monterosso (Azienda ULSS 3 Serenissima—Ospedale dell'Angelo Mestre- Fondazione Banca degli Occhi del Veneto,Venezia, Italy) ; Paola Morandi (ERN-EYE ePAG) ; Katarzyna Nowomiejska (Medical University, Lublin, Poland) ; Francesco Parmeggiani (Centre for Retinitis Pigmentosa of the Veneto Region—Camposampiero Hospital—Azienda ULSS Euganea, Padova, Italy) ; Ilaria Passerini (Azienda Ospedaliero Universitaria Careggi, Firenze, Italy) ; Valérie Pelletier (Hôpitaux Universitaires de Strasbourg, France) ; Francesca Peluso (Azienda Ospedaliero Universitaria Meyer, Florence, Italy) ; Yaumara Perdomo (Hôpitaux Universitaires de Strasbourg, France) ; Emilio Rapizzi (Azienda ULSS 3 Serenissima—Ospedale dell'Angelo Mestre- Fondazione Banca degli Occhi del Veneto,Venezia, Italy) ; Laura Roos (Rigshospitalet, Glostrup, Denmark) ; Susanne Roosing (Radboud University, Nijmegen, Netherlands) ; Jean-Michel Rozet (Institut Imagine, Paris, France) ; Panos Sergouniotis (Manchester NHS Foundation Trust, Manchester, UK) ; Francesca Simonelli (AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy) ; Andrea Sodi (Azienda Ospedaliero Universitaria Careggi, Firenze, Italy) ; Jane Sowden (University College, London, UK) ; Katarina Stingl (Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany) ; Dominique Sturz (ERN-EYE ePAG) ; Marius Sukys (Hospital of Lithuanian University of Health Science, Kauno Klinikos, Lithuania) ; Agnese Suppiej (AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy) ; Gita Taurina (Children’s Clinical University Hospital, Riga, Latvia) ; Francesco Testa (AOU Università degli Studi della Campania Luigi Vanvitelli, Napoli, Italy) ; Anna Tracewska (Wroclaw Research Centre EIT, Wroclaw, Poland) ; Giovanna Traficante (Azienda Ospedaliero Universitaria Meyer, Florence, Italy) ; Sandra Valeina (Children’s Clinical University Hospital, Riga, Latvia) ; Caroline Van Cauwenbergh (Ghent University Hospital, Ghent, Belgium); Elfride De Baere (Ghent University Hospital, Ghent, Belgium); Russell Wheeler (ERN-EYE ePAG) ; Thomas Wheeler-Schilling (Centre for Ophthalmology, University Eye Hospital, Tübingen, Germany) ; Patrick Yu-Wai-Man (Moorfields Eye hospital, London, UK) ; Christina Zeitz (Institut de la Vision, Paris, France) ; Reda Žemaitienė (Hospital of Lithuanian University of Health Science, Kauno Klinikos, Lithuania)

Funding

All authors are members of ERN-EYE, which is co-funded by the Health Program of the European Union under the Framework Partnership Agreement No 739534 ‘ERN-EYE’. E.D.B. (1802220 N) and B.P.L. (1803816 N) are Senior Clinical Investigators of the FWO.

Author information

Author notes

  1. Graeme C. Black, Panagiotis Sergouniotis and Andrea Sodi contributed equally to the work

Authors and Affiliations

  1. 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

    Graeme C. Black & Panagiotis Sergouniotis

  2. Azienda Ospedaliero Universitaria Careggi, Firenze, Italy

    Andrea Sodi

  3. Department of Ophthalmology, Ghent University Hospital, Ghent, Belgium

    Bart P. Leroy & Caroline Van Cauwenbergh

  4. Department of Head and Skin, Ghent University, Ghent, Belgium

    Bart P. Leroy

  5. Center for Medical Genetics Ghent, Ghent University Hospital, Ghent, Belgium

    Bart P. Leroy

  6. Division of Ophthalmology and Center for Cellular and Molecular Therapeutics, The Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Bart P. Leroy

  7. Department of Ophthalmology, General University Hospital in Prague, Prague, Czech Republic

    Petra Liskova

  8. Rigshospitalet, Glostrup, Denmark

    Karen Grønskov

  9. East Tallinn Central Hospital, Tallinn, Estonia

    Artur Klett

  10. Institute for Ophthalmic Research, Centre for Ophthalmology, University Hospital Tübingen, Tübingen, Germany

    Susanne Kohl

  11. Children’s Clinical University Hospital, Riga, Latvia

    Gita Taurina

  12. Hospital of Lithuanian, University of Health Science, Kauno Klinikos, Lithuania

    Marius Sukys

  13. Department of Human Genetics, Radboudumc, Nijmegen, Netherlands

    Lonneke Haer-Wigman & Frans P. M. Cremers

  14. Department of General Ophthalmology, Medical University, Lublin, Poland

    Katarzyna Nowomiejska

  15. Centro Hospitalar E Universitário de Coimbra (CHUC), Coimbra, Portugal

    João Pedro Marques

  16. ERN-EYE Coordination Center, Hopitaux Universitaires de Strasbourg, Strasbourg, France

    Dorothée Leroux & Hélène Dollfus

  17. Center for Medical Genetics, Department of Biomolecular Medicine, Ghent University and Ghent University Hospital, Ghent, Belgium

    Elfride De Baere

  18. CARGO, Hôpitaux Universitaires de Strasbourg, Strasbourg, France

    Hélène Dollfus

  19. U-1112, Inserm, Faculté de Médecine, Université de Strasbourg, Strasbourg, France

    Hélène Dollfus

Authors
  1. Graeme C. Black
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  2. Panagiotis Sergouniotis
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  3. Andrea Sodi
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  4. Bart P. Leroy
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  5. Caroline Van Cauwenbergh
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  6. Petra Liskova
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  7. Karen Grønskov
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  8. Artur Klett
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  9. Susanne Kohl
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  18. Hélène Dollfus
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Consortia

ERN-EYE study group

  • Gavin Arno
  • , Jane Ashworth
  • , Isabelle Audo
  • , Giacomo Bacci
  • , Vilma Jurate Balciuniene
  • , Sara Bargiacchi
  • , Mette Bertelsen
  • , Graeme Black
  • , Camiel Boon
  • , Dominique Bremond-Gignac
  • , Luca Buzzonetti
  • , Patrick Calvas
  • , Adela Chirita-Emandi
  • , Davit Chokoshvili
  • , Frans Cremers
  • , Avril Daly
  • , Hélène Dollfus
  • , Susan Downes
  • , Adriano Fasolo
  • , Christina Fasser
  • , Dominik Fischer
  • , Pina Fortunato
  • , Arvydas Gelzinis
  • , Karen Grønskov
  • , Lonneke Haer-Wigman
  • , Georgina Hall
  • , Steffen Hamann
  • , Elise Héon
  • , Giancarlo Iarossi
  • , Caroline Iberg
  • , Gaëlle Jouanjan
  • , Helena Kaariainen
  • , Kamron Kahn
  • , David Keegan
  • , Artur Klett
  • , Susanne Kohl
  • , Michael Laengsfeld
  • , Alberta Leon
  • , Dorothée Leroux
  • , Bart Peter Leroy
  • , Petra Liskova
  • , Birgit Lorenz
  • , Riccardo Maggi
  • , Joao Pedro Marques
  • , Laura Mauring
  • , Paolo Melico
  • , Isabelle Meunier
  • , Saddek Mohand-Saïd
  • , Cristina Monterosso
  • , Paola Morandi
  • , Katarzyna Nowomiejska
  • , Francesco Parmeggiani
  • , Ilaria Passerini
  • , Valérie Pelletier
  • , Francesca Peluso
  • , Yaumara Perdomo
  • , Emilio Rapizzi
  • , Laura Roos
  • , Susanne Roosing
  • , Jean-Michel Rozet
  • , Panos Sergouniotis
  • , Francesca Simonelli
  • , Andrea Sodi
  • , Jane Sowden
  • , Katarina Stingl
  • , Dominique Sturz
  • , Marius Sukys
  • , Agnese Suppiej
  • , Gita Taurina
  • , Francesco Testa
  • , Anna Tracewska
  • , Giovanna Traficante
  • , Sandra Valeina
  • , Caroline Van Cauwenbergh
  • , Elfride De Baere
  • , Russell Wheeler
  • , Thomas Wheeler-Schilling
  • , Patrick Yu-Wai-Man
  • , Christina Zeitz
  •  & Reda Žemaitienė

Contributions

G.C.B., P.S.; E.D.B., H.D. conceptualized and wrote the manuscript. B.P.L., C.V.C., P.L. K.G., A.K., S.K., A.S., G.T., M.S., L.H.-W., K.N., J.P.M, D.L, F.P.M.C. and the ERN-EYE study group critically reviewed the paper. All author read and approved the final manuscript.

Corresponding author

Correspondence to Dorothée Leroux.

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Black, G.C., Sergouniotis, P., Sodi, A. et al. The need for widely available genomic testing in rare eye diseases: an ERN-EYE position statement. Orphanet J Rare Dis 16, 142 (2021). https://doi.org/10.1186/s13023-021-01756-x

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Keywords

Orphanet Journal of Rare Diseases

ISSN: 1750-1172