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One of the greatest challenges faced by those working to treat rare diseases is that the expertise and the very small groups of patients are scattered across the world. Even within Europe, it is very difficult to connect the right knowledge, treatment and research with the people who need it most.
Late last year, the European Commission made a move to change this. It approved 24 networks of experts and healthcare providers, organised across borders under the framework of an EU directive on patients’ rights in cross-border healthcare.
These “European Reference Networks” (ERNs) will be able to share and implement existing knowledge on diagnosis, treatment and care and will generate new knowledge.
Nearly 1,000 centres of expertise in 360 hospitals will be linked, connecting thousands of highly specialised health professionals. It is a tangible example of the value of EU co-operation in healthcare policy that will directly benefit patients.
To make sure each of the thousands of rare diseases that exist is covered by an ERN, the networks are organised according to disease groups. For example, there is an ERN on rare bone disorders and one for rare neurological diseases. The networks are embedded into national healthcare systems and share common missions.
The expertise will travel, rather than the patient. If a doctor does not have specific knowledge about the disease in question, the system will connect that doctor to clinician who does. This happens primarily through the use of a common virtual clinical board for the exchange of patient information (which will remain confidential). It can also store clinical data and medical images collected by each network.
If doctors have the most recent and expert knowledge available, they make better decisions on how to adapt a treatment. They have access to second opinions on treatment strategies. This in turn contributes to improvements in patients’ health and quality of life.
My organisation, Eurordis — Rare Diseases Europe, has been the voice of rare disease patients in Europe, advocating the creation of ERNs since 2006. We feel that we now stand at a momentous point in history: by connecting patients, experts and hospitals, ERNs will help end the isolation of patients, break the silos in which experts have worked and reduce the inequality in care that is reported between rare diseases and between member states.
Patients will be at the centre of these new networks. Democratically elected patient representatives will sit on the boards of their respective networks, collecting and relaying other patients’ views on how they should be governed. The implications will be huge, not just for patients, clinicians and researchers, but also for the pharmaceuticals companies.
ERNs will provide an opportunity for a new type of public-private partnership, helping to produce the kind of quality data that industry needs to develop new medicines. By collecting real-world evidence, companies will be able to gain in productivity and economy of scale.
Today is Rare Disease Day and the theme for 2017 is research. We must try to integrate existing research infrastructures in Europe across these networks. This would radically change how research is carried out and data are collected. Rather than focusing on one disease, data will be collected for many, meeting the same standards, using the same tools and helping to recruit patients to clinical trials.
Ultimately, ERNs will improve the health and wellbeing of millions of people living with a rare disease, leaving no one behind.
Yann Le Cam is chief executive of Eurordis — Rare Diseases Europe