Contributed by Bernard Gouget, SFBC-FESCC representative, FESCC advisory board member, adviser for Public Health, French Hospital Federation
The definition of the rarity of disease - less than one person in 2000 affected, according to the threshold retained in Europe- should not mask the public health problem. The 7000 known rare diseases represent a new challenge for public health and present a new medical problem: the need to learn to discover and recognise the exception, to progress in the understanding of the disease, to share information and to organise networks supported by national or international centres of reference. Knowledge of the origin of these diseases has significantly progressed through the identification of genes that allow the formal identification of 800 diseases. There is still progress to be made and pharmaceutical industry constitutes one of the major sources of innovation with new orphan drugs.
Early diagnosis and follow-up require multidisciplinary expertise, both scientific and medical competences, because rare diseases are in most cases serious, chronic and debilitating often requiring long and heavy specialized treatments. In addition, they often result in some form of handicap sometimes extremely severe. The impact on families is often major. The associations of people affected by rare diseases play an important role. They are the motor behind a real collective awareness raising and have become a key player and important partner with health professionals, researchers and public authorities. A National Plan for Rare Diseases 2005-2008 was implemented last year in France to propose a series of concrete measures to provide a response to the expectations of patients and families. In its initial goal to "ensure equity in the access to diagnosis, treatment and provision of care" for people suffering from rare diseases, the French National Plan determined ten strategic priorities:
- increasing knowledge of the epidemiology of rare diseases;
- recognising the specificity of rare diseases;
- developing information for patients, health professionals and the general public concerning rare diseases;
- training professionals to better identify rare diseases;
- organising screening and access to diagnostic tests;
- improving access to treatment and the quality of healthcare provision for patients;
- continuing efforts in favour of orphan drugs;
- responding to the specific needs of accompaniment of people suffering from rare diseases and developing support for patients' associations;
- promoting research and innovation on rare diseases, notably for treatments;
- and developing national and European partnerships in the domain of rare diseases.
The European rare disease portal Orphanet is a key initiative to improve the availability of information internationally. This website is offering a user-friendly format, adapted to visitors with visual impairment. New facilities will be available very soon, including access to disease classifications and the possibility to query the database by disease category or by signs and symptoms. Another informational initiative is a pocketsize identity card created for patients needing specific medical attention, particularly useful in emergency situations. For rare disease patients, a half-dozen identity cards have thus far been designed. The card contains care instructions, including diagnostic, treatment, and contact person/institution details, as well as an information section, composed of a description and definition of the disease in question and a list of sources for further information. Information is available in English, designed for the traveling patient.
Implementation of the different measures calls upon integration into the European policy, that France largely helped to initiate. In France, 67 centres of reference have thus far been designated for rare diseases. One hundred such centres are expected to be opened by the end of 2006. Efforts to coordinate on a pan-European level are also underway. There is a significant added value of cooperation at the European level in tackling rare diseases. The field of rare diseases was chosen as a starting point for discussion and experimentation to develop general principles for European networks of centres of reference (ENCR). The areas to be covered by a European network of reference could be not limited to the rare diseases but also on the pathologies, technologies and techniques. The decision to select European network of centres of reference requires significant expertise and knowledge of the current international situation in order to continue to ensure coherence between the different stands of action and appropriate priorities for action and future works. FESSC, as external expert, could also provide useful reflections on ENCR and contribute to investigations of scientific, legal, financial and organisational issues raised by the establishment of European centres of reference. This includes the identification process, appropriate expertise, capacities to follow up, to manage with evidence based outcomes, to adhere to good practice guidelines, to implement quality control programmes, and to determine the general framework