A unique e-health and telemedicine implementation: European Reference Networks for rare diseases

Abstract

According to the European Union (EU), a disease is considered rare when it affects no more than one person in 2000. Rare diseases (RDs) are serious, chronic, and often life-threatening conditions. There are major problems with the diagnosis and treatment of RDs, such as lack of knowledge, lack of or delayed diagnosis, lack of treatment, and lack of or limited access to medical care. The aim of this article is to evaluate the European Reference Networks (ERNs) for rare diseases. Literature and document search. After undertaking many projects with regard to preparation of the national registries, the EU has established European Reference Networks (ERNs) to facilitate cooperation among national registries and to support more effectively the treatment of RDs throughout Europe. The first 24 ERNs were launched in 2017, involving more than 900 specialized healthcare units from over 300 hospitals in 26 Member States and healthcare providers across Europe. ERNs are virtual networks that bring all existing knowledge, experience, and resources together, using three e-health and telemedicine tools: the ERN Collaborative Platform, the ERN Clinical Patient Management System, and the ERN public website. With these tools, ERNs bring the best specialists together from all European countries and make the best treatment accessible for patients. ERNs can be considered a unique example of e-health and telemedicine implementation at a high level.