Vos J R, van Zelst-Stams W A G, Hoogerbrugge N
Radboudumc, afd. Genetica, Nijmegen.
Ned Tijdschr Geneeskd. 2018;162:D2376.
Approximately one million patients in the Netherlands and 27-36 million patients in Europe have one of the 5,000-8,000 known rare diseases. These patients often do not receive the care they need or with a substantial delay from diagnosis to treatment. As of March 2017, 24 European Reference Networks (ERNs) were launched with the aim to improve the care for these patients through cross-border healthcare, where in principle the knowledge travels and not the patient. It is expected that through the ERNs, European patients with a rare disease get more often and more quickly access to expert care and that it will accelerate guideline development and research. In each of the 24 ERNs, one or more Dutch expertise centres for rare diseases participate, and 5 ERNs are coordinated by centres from the Netherlands.
在荷兰，约有100万患者患有已知的5000 - 8000种罕见疾病中的一种，在欧洲，这一数字为2700万至3600万。这些患者往往得不到他们所需的治疗，或者从诊断到治疗会有相当长的延迟。截至2017年3月，24个欧洲参考网络（ERNs）启动，旨在通过跨境医疗改善这些患者的护理，原则上是知识流动而不是患者流动。预计通过ERNs，患有罕见疾病的欧洲患者将更频繁、更迅速地获得专家护理，这也将加速指南制定和研究。在24个ERNs中的每一个中，都有一个或多个荷兰罕见病专业中心参与，并且有5个ERNs由荷兰的中心协调。
