EU lays the framework for cross border cooperation in rare diseases

The Commission has formally launched the European Reference Networks (ERNs) through which healthcare providers and specialists in diagnosing and treating rare diseases will be able to share their expertise across Europe.

There are 24 ERNs, each specialising in different categories of rare disease, for example, bone disorders. Overall, the ERNs bring together over 900 teams of health professionals and physicians in more than 300 hospitals. Each ERN is led by one specialist centre.

Rare diseases affect 5 in 10,000 people, meaning that in many cases there is little specialist knowledge of a particular disease. However, there are between 6,000 – 8,000 rare diseases, meaning that despite the rarity of each one the combined toll is significant – with 30 million patients in Europe.

The Commission has invested €3 million is setting up the ERNs, which will cost €4.6 million per year to run. However it says their success hangs on national authorities supporting their operation.

The hope is that by interconnecting specialists in rare diseases, diagnosis and treatment will be improved. It will also make it easier to find patients to take part in clinical trials of potential new therapies.

At the same time, ERNs will be a source of information for patients, providing information on treatment options, with one of the main objectives of the initiative being to promote more patient empowerment in medical decision-making.

Electronic health records, information technology and virtual cross-European advisory boards will play an essential in making the ERNs work in practice.

The ability to electronically share knowledge about the most recent advances in treatments and results of clinical trials will promote more equal access to quality of care across Europe.

The ERNs, first proposed as far back as 2006, have been set up under the 2011 directive on patients’ rights in cross border healthcare.

Speaking at the launch of the ERNs, Vytenis Andriukaitis, European Commissioner for Health said, “As a medical doctor, I have too often been witness to tragic stories from patients with rare or complex diseases who were left in the dark, sometimes unable to find an accurate diagnosis and receive a treatment. I have also seen my colleagues struggling to help because they lack information and opportunities to network.”

The ERNs will connect the considerable EU knowledge and expertise that is currently scattered between countries. That that will make the networks, “A tangible illustration of the added value of EU-collaboration,” Andriukaitis said.

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