EUROPEAN REFERENCE NETWORKS (ERNs): Could they become game-changers for patients with rare and complex diseases?


by Dr. Androulla Eleftheriou
TIF Executive Director

Whilst in Cyprus controversies over the radical reform of the Health Sector with the forthcoming implementation of the General Health Plan keep rising to the top of the political agenda, the attention of healthcare professionals and providers, patient representatives and institutions of the European Union is currently focusing on the aftermath of the 4th Conference on European Reference Network, held in Brussels on November 21-22, 2018.

The European Reference Networks (ERNs) are innovative cross-border collaborative platforms with dedicated expertise centres and specialist doctors aiming to provide high-quality care to European patients with rare diseases whose diagnosis and treatment are often difficult, due to a lack of relevant knowledge and experience to manage these diseases locally. Cooperation and knowledge-sharing between national and regional Expertise Centres have proven to be the most effective approach to addressing significant unmet needs of rare diseases in Europe. The first 24 ERNs were created in 2017, with more than 900 specialized healthcare units from more than 300 hospitals in 26 Member States.

The 4th  ERNs Conference presented the main clinical and organizational outcomes of the networks and promoted consultation between participants on existing challenges and scope for future improvements in their operation. According to the Conference’s findings, it is estimated that about 250 patients with rare diseases have benefited to date from ERNs since their official launch on 1/1/2017, a figure that could be even higher if there were no disproportionate involvement of European countries in these networks. Countries such as Italy, Germany and France have a substantial number of Centres of Expertise associated with the ECNs, whereas others, such as Austria, Norway and Cyprus, have still a long way to go.


Why are Cyprus and other countries falling behind?

Cyprus has two designated Centres of Expertise, the Thalassaemia Centre of the Archbishop Makarios Hospital and the Cyprus Institute of Neurology and Genetics (CING). It is daunting that the appointment of Centres of Expertise and networking with ERNs, and hence with the available medical excellence abroad, remain largely untapped in Cyprus. We remain surprisingly hesitant about the holistic management of the needs and problems that plague more than 60,000 patients with rare diseases in our country, and this is happening despite the considerable efforts made by the Cypriot Ministry of Health, particularly in the last 4-5 years with regard to the less burocratic and more transparent procedures for the access of difficult, complex patient cases to European Reference Centres.

The huge added value of ERNs is the attempt of bringing the expertise to the patient and not the patient to the expertise, as far and as much as possible! Sharing of knowledge, expertise, best practices and resources constitutes a significant objective of the ERNs’ mission and vision. This need is even more pronounced in countries with small populations and/or poorer and more confined health infrastructures for many of the very particular necessities of patients with rare diseases.


A milestone for millions of patients

The operation of the ERNs includes a multitude of services, including the exchange of biological samples, the processing of highly specialized analyses, and the promotion of virtual telemedicine interviews that will really add value to the state's overall effort to modernize the health sector, while at the same time contributing to saving public spending. Above all, however, they will alleviate the fear, uncertainty and anxiety of thousands of patients with rare diseases, since Centres of Expertise and their networking at national and European level will be able to properly guide the patient and help him avoid a labyrinth of inconvenience for the more effective diagnosis and treatment of his illness.

Using constructively the EU's great pool of knowledge and expertise, breaking isolation of patients, and helping reduce the current inequality in care reported between rare diseases and between Member Statesis a unique opportunity for revolutionizing healthcare access and delivery and must not result as another example of a great lost opportunity.

The ERNs, apart from being a significant article of the EU Directive and subsequent of the relevant 2013 law in each EU Member State, are truly considered as the solution to several problems and challenges rare disease patients are facing daily.