Acting together

By their nature, each individual rare disease only affects a small number of people.  This is the reason why people suffering with rare diseases often find that their doctor does not even know that their condition exists.

It can take years of frustration and uncertainty before patients with rare diseases get a proper diagnosis. The commission is very active in the area of rare diseases, setting this as one of its priorities in the field of public health.

Most rare diseases are genetic diseases, and many are types of cancer (i.e. rare tumours). In view of the very low prevalence of these diseases (conditions affecting fewer than five in 10,000 people, or even fewer), special combined efforts are required to address them, in order to prevent significant morbidity, early mortality, or a considerable reduction in an individual’s quality of life.

It is estimated that several thousand distinct rare diseases exist today, affecting just under ten per cent of the population in total. This translates to approximately 32 million people in the EU affected by a rare disease.

As this seemingly large number of patients is sparsely scattered across Europe, action on this issue at EU-level is crucial. Health professionals and public health authorities currently have insufficient knowledge of the majority of rare diseases. This lack of knowledge can lead to problems of diagnostic error and delayed provision of care.  

Developing a public health policy, specific to each rare disease, is impossible, and would be difficult to justify. A global approach to rare diseases means that the limited resources available, which are currently fragmented and scattered across the EU, can be coordinated and used in a more effective and efficient way.

Member states have much to gain from working together. The EU has a key role to play in facilitating capacity and information sharing and the exchange of best practice. This is an area where action at EU level can make a real difference for patients and their relatives across Europe.

The communication on rare diseases aims to improve patients’ access to appropriate care and information, and to reverse the current situation of uncertainty and marginalisation for people suffering from a rare disease.  The key priorities are to establish a common definition of rare diseases in the EU, and to improve their codification and classification.

We also aim to highlight the need for national plans in the member states. These plans should include provisions for the creation of centres of reference and participation in European reference networks. Furthermore, we will establish a common system of information resources for patients and clinicians, and support an EU rare diseases portal. Overall, we hope to better integrate action on rare diseases with other related policies.

Apart from the work that we are doing on the field of rare diseases, I would also like to highlight some specific work the commission has been funding on rare cancers. In 2006, a project on the surveillance of rare cancers in Europe (RARECARE) was selected for funding.

This project aims to provide an operational definition of rare cancers, to estimate the burden of these cancers in Europe, and to improve the quality of data on rare cancers. It will also develop strategies and mechanisms for the diffusion of information among all the key players involved in Europe-wide surveillance and treatment of rare cancers.

Rare diseases have been and continue to be a research priority for the commission. In the fifth framework programme, 45 rare disease-specific research projects were funded for about €65m.

In the sixth programme, €475m was allocated to cancer-related research. In the current programme, which will run until 2013, there is again a focus for rare-disease-specific research, which will be on pan-European studies of natural history, pathophysiology, and the development of preventive, diagnostic and therapeutic interventions.

Effective coordination of research and technological development will be further supported by our recently adopted initiative on rare diseases.

Finally, with our proposals on the field, we aim at better integrating the EU rare diseases public health action with other policies such as research, orphan drugs, and advanced therapies.

We will build on the existing substantial contribution of the research programmes, and the specific legal provisions to help develop new drugs for rare diseases. I believe that with the coordinated and valuable contribution of the member states we will succeed in helping significantly our fellow citizens that suffer the most.

European cooperation can make the difference between marginalisation and proper care for millions of people across Europe.