Tumiene Birute, Graessner Holm, Mathijssen Irene Mj, Pereira Alberto M, Schaefer Franz, Scarpa Maurizio, Blay Jean-Yves, Dollfus Helene, Hoogerbrugge Nicoline
Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, Vilnius, Lithuania.
Vilnius University Hospital Santaros Klinikos, Vilnius, Lithuania.
J Community Genet. 2021 Apr;12(2):217-229. doi: 10.1007/s12687-021-00521-8. Epub 2021 Mar 17.
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.
欧洲参考网络（ERNs）基于这样一个原则建立：许多罕见病问题是泛欧洲的，任何单个成员国都无法独自解决这些问题。2021年，ERNs已进入部署阶段；然而，它们的日常运作及其潜力的实现仍受到诸多挑战的严重阻碍，包括治理和监管问题、缺乏法律地位、资金不足且不可持续、ERNs未融入国家体系、脱欧导致与英国罕见病专家的合作受到威胁、在罕见病研究中对ERNs潜力的利用不足、对高素质人力资源的重视不够、患者代表参与方面的问题，以及ERNs在整个欧洲罕见病和数字生态系统中的地位仍不明确。解决这些挑战必须采取的大胆创新解决方案不可避免地涉及多个部门以及多方利益相关者罕见病群体之间的泛欧洲合作，而且在许多情况下，关键依赖于基于欧盟共同价值观的国家和欧洲当局之间的建设性对话以及一致、统一的决策。重要的是，未解决的挑战可能会对ERNs的进一步可持续性及其在满足罕见病患者及其家庭巨大未满足需求方面充分发挥潜力的能力产生重大影响。
