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.
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Funding
This work was supported (not financially) by the European Reference Networks: European Reference Network for Rare Neurological Diseases (ERN-RND); European Reference Network on craniofacial anomalies and ear, nose and throat (ENT) disorders (ERN CRANIO); European Reference Network on rare endocrine conditions (Endo-ERN); European Reference Network on kidney diseases (ERKNet); European Reference Network on hereditary metabolic disorders (MetabERN); European Reference Network on adult cancers (solid tumours) (ERN EURACAN); European Reference Network on eye diseases (ERN EYE); and European Reference Network on genetic tumour risk syndromes (ERN GENTURIS). These ERNs are co-funded by the European Union within the framework of the Third Health Program “ERN-2016—Framework Partnership Agreement 2017–2021.”
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Dr. Graessner received consulting fees from Roche. He has received a speaker honorarium from Takeda. The co-authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this article.
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Tumiene, B., Graessner, H., Mathijssen, I.M. et al. European Reference Networks: challenges and opportunities. J Community Genet 12, 217–229 (2021). https://doi.org/10.1007/s12687-021-00521-8
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DOI: https://doi.org/10.1007/s12687-021-00521-8