European Reference Networks: challenges and opportunities

Journal of Community Genetics, vol. 12, pp. 217–229

Abstract

European Reference Networks (ERNs) were founded on the principle that many rare disease (RD) issues are pan-European and any single Member State cannot solve them alone. In 2021, ERNs are already in the deployment stage; however, their day-to-day functioning and realization of their potential are still severely hampered by many challenges, including issues in governance and regulation, lack of legal status, insufficient and unsustainable funding, lack of ERN integration into national systems, endangered collaboration with UK RD experts due to Brexit, insufficient exploitation of ERN potential in RD research, underappreciation of highly qualified human resources, problems with the involvement of patient representatives, and still unclear place of ERNs in the overall European RD and digital ecosystem. Bold and innovative solutions that must be taken to solve these challenges inevitably involve pan-European collaboration across several sectors and among multistakeholder RD communities and in many cases crucially rely on the constructive dialogue and coherent, united decisions of national and European authorities that are based on common EU values. Importantly, unresolved challenges may have a strong impact on the further sustainability of ERNs and their ability to realize full potential in addressing huge unmet needs of RD patients and their families.

Authors 8

1. Biruté Tumiene corresponding

   Vilnius University · Vilnius University Hospital Santariskiu Klinikos

   Affiliation as printed

   Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania. tumbir@gmail.com

   Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania. tumbir@gmail.com

   Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania

2. Holm Graeßner

   Universitätsklinikum Tübingen · ERN-RND · University of Tübingen

   Affiliation as printed

   Centre for Rare Diseases, University Hospital Tübingen, Tübingen, Germany

   European Reference Network for Rare Neurological Diseases (ERN-RND), Tübingen, Germany

   Institute for Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany

3. Irene M.J. Mathijssen

   Erasmus MC · ERN CRANIO

   Affiliation as printed

   Department of Plastic and Reconstructive Surgery and Hand Surgery, Erasmus MC, University Medical Center Rotterdam, Rotterdam, The Netherlands

   European Reference Network on craniofacial anomalies and ear, nose and throat (ENT) disorders (ERN CRANIO), Rotterdam, The Netherlands

4. Alberto M. Pereira Aachen Department of Medicine Division of Endocrinology and Center for Endocrine Tumors

   Leiden University Medical Center · Endo-ERN

   Affiliation as printed

   Department of Medicine, Division of Endocrinology and Center for Endocrine Tumors, Leiden University Medical Center, Leiden, The Netherlands

   European Reference Network on rare endocrine conditions (Endo-ERN), Leiden, The Netherlands

5. Franz S. Schaefer

   Heidelberg University · ERKNet

   Affiliation as printed

   European Reference Network on kidney diseases (ERKNet), Heidelberg, Germany

   Pediatric Nephrology Division, Center for Pediatrics and Adolescent Medicine, Heidelberg, Germany

6. Maurizio Scarpa

   University of Udine · MetabERN

   Affiliation as printed

   European Reference Network on hereditary metabolic disorders (MetabERN), Udine, Italy

   Regional Coordinating Center for Rare Disease, University Hospital of Udine, Udine, Italy

7. Jean‐Yves Blay

   Centre Léon Bérard · ERN EURACAN

   Affiliation as printed

   Department of Medical Oncology, Centre Leon Berard, Lyon, France

   European Reference Network on adult cancers (solid tumours) (ERN EURACAN), Lyon, France

8. Hélène Dollfus

   ERN EYE

   Affiliation as printed

   European Reference Network on eye diseases (ERN EYE), Strasbourg, France

   Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France

   Service de Génétique Médicale, Institut de Génétique Médicale d’Alsace, Centre de Référence pour les Affections Rares en Génétique Ophtalmologique (CARGO), Strasbourg, France