Brussels, 06/10/2008 (Agence Europe) - The European Commission will finally adopt its communication on a European action in the field of rare diseases in mid-November. Antoni Montserrat, responsible for the dossier at the Commission, said last week during the Bad Gastein Forum that he trusts the Parliament will manage to adopt a report by the end of the legislature (several MEPs are already candidate rapporteurs, including Slovakian Christian Democrat Miroslav Mikolasik and Belgian Liberal Frédérique Ries). He also hopes the Council will adopt the recommendation joined to the communication by June 2009.
Five people out of 10,000 are affected by rare diseases, but it is estimated there are between 5,000 and 8,000 such diseases. In other words, if each disease does not affect more than 246,000 people in the 27 EU member states, in total no fewer than 29 million Europeans will suffer from a rare disease. The low rate of prevalence means that public health systems show less interest in such diseases. The large number of diseases, which are often complicated and not well documented, together with their low incidence, means that patients and their families come up against a succession of mistaken diagnoses, ineffective treatment, and the lack of any treatment or inadequate care. These rare diseases, many of which are genetic, also cover rare cancers, auto-immune diseases and infectious diseases. Some are degenerative and many are often highly incapacitating. To the medical problem strictly speaking is added a whole series of problems linked to social support and accompaniment, including the fight against some kinds of discrimination.
The Commission is not just at the experimental stage. Spurred on by patients' associations extremely active in the sector, it had already set up a Community action programme for rare diseases (1999-2003) and taken these diseases into account as part of the Community research programme and public health programme. With the new communication, it hopes to strengthen the consistency of European action, on the basis of Article 152 of the Treaty (Ed: we recall that entry into force of the Lisbon Treaty would have allowed European action in the health field to be stepped up). It will therefore suggest a Community strategy aimed at (1) supporting member states; and (2) improving consistency between the public health programme, the research framework programme, measures taken with the European Agency for the Evaluation of Medicinal Products (EMEA) for orphan medicines, paediatric use of medicines, new therapies, as well as the proposal for a directive on patient mobility and cross-border healthcare (under examination).
The Commission is above all expected to suggest: (1) improving the recognition and visibility of rare diseases, mainly by creating a codification and classification system for these diseases at European level (the communication provides for a specific working group to be set up), and also continuing development of the Orphanet database as well as development of comparable epidemiological data at EU level; (2) supporting member state policies: the setting in place of national plans to improve access to diagnosis, treatment and coverage, developing research, identifying centres of expertise and promoting their participation in European reference networks, as well as developing patient and patient association involvement; and (3) developing coordination and cooperation at European level. This concerns research, patient access to treatment and adequate social services, adjustment of European regulations to the specific needs of rare diseases (compassionate use, orphan medicines, etc). To this must be added the setting up of reference laboratory networks for diagnosis, and the promotion of screening when there is real added value (especially for phenylcetonuria and congenital hypothyroidism). The communication also suggests a debate should be launched on primary prevention and possible incentive measures examined for the production of medical devices.
In order to implement this strategy, the Commission is expected to create a European works council on rare diseases, which will also be responsible for organising the next conferences on rare diseases. The previous conferences were held in Copenhagen (2001), Paris (2003), Luxembourg (2005) and Lisbon (2007). Subject to a change in its mandate, the ECDC (European Centre for Disease Prevention and Control) could also be involved in the future. The Commission also contemplates encouraging the organisation of a European Day for Rare Diseases (28 or 29 February). In the context of the next financial perspectives (2014-2020), the Commission envisages the creation of a fund for rare diseases within the future public health programme. It plans to launch a feasibility study from next year on concerning the creation of a European Agency of Rare Diseases. (O.J./transl.jl)