Brussels, 13/07/2009 (Agence Europe) - Underway for about one year now, revision of international disease classification should be concluded in 2014. To date, out of the 12,000 diseases listed, only about 250 rare diseases have had a specific code, says Dr Ségolène Aymé, entrusted by the World Health Organisation (WHO) to head the working group on these diseases. On the strength of experience acquired within the framework for developing the Orphanet database, Séglène Aymé, who manages the database, hopes to reach a classification of the 7,000 rare diseases listed to date. Recognition of these diseases at international level will constitute major progress in so far as it should facilitate, at global level, the coverage of patients' medical costs (the code allocated to the disease by WHO is then transposed to the national health system, with potential impact when it comes to reimbursement) and the taking into account of these diseases by insurance companies. International classification, which has existed for a century, is revised every 20 years and allows a common language to be established to describe each clinical item on record (disease or other incident affecting health) on the basis of better recognised symptoms. In some ways, it allows “diseases to become visible in health systems” and hence ensures better account is taken of such diseases in statistics (prevalence, morbidity, mortality) and epidemiological surveillance (knowledge of the disease, aetiology, mutations of infectious agents, and effectiveness of treatment).
This is the first time that a working group relates to rare diseases. It is one of ten groups set up by the WHO, the others concerning, for example, neurology, oncology, psychiatry or internal medicine. According to the European definition which above all retains the criterion of prevalence, rare diseases can be genetic diseases (80%), auto-immune diseases, rare cancers or infectious diseases each of which affect fewer than 5 people out of 10,000. First of all, it is a matter of comparing data gathered by Orphanet with all the work that has been published in the world, a task that is speeded up thanks to the internet, and which is conducted in close collaboration with NIH specialists on rare diseases in the United States and other similar institutions in Asia and in the Pacific region.
The resulting inventory is placed on line for discussion, explains Ségolène Aymé, who is also director for research at INSERM, France. Three areas (haematology, endocrinology and nutrition) have already come into this work, which recently tackled diseases of the immune system. One of the difficulties lies in the fact that these diseases are complex and, in the European system, they are often listed under several entry categories as they overlap in several areas. The WHO therefore stresses the need to place each disease in a separate chapter of classification. By the end of 2009, it is nonetheless expected that there will be the first proposal of general classification (“alpha draft”) which should, according to Dr Ségolène Aymé, comprise 2,000 specific codes for rare diseases, with the other variants of one and the same disease being grouped under the same number.
This work also highlights how difficult it is to represent knowledge, Ségolène Aymé explained, referring to the fact that a muted gene can be at the origin of several diseases, that the degree of severity can vary depending on various factors, and that the same disease can have several names. Neither is it rare to come up against a “problem of cultural representation of the disease, mainly in psychiatry”, she continued. The clinical description therefore remains essential if there is to be understanding at the international level.
“The European Commission's action has been decisive for the recognition of rare diseases, including through the support provided to Orphanet”, Ségolène Aymé said, saying this support has contributed to the international credibility of the work carried out for the European database and has allowed “access to WHO classification”. It is, however, imperative for this support to continue in order to ensure that the Orphanet database is regularly updated. This is made essential by the rapid development of knowledge on such diseases and the continued, sustained rate of discovery of new diseases. The European database's status as a reference catalogue also depends on its ability to adjust to developments in knowledge. The annual budget (about €2 million) is supported by a small budget managed by DG SANCO and co-funding from the 7th Community framework programme for research and development (the latter being tributary to a call for proposals that is not automatically renewed from one year to the next), but it does not benefit from good multiannual financial predictability. This would have been possible on the basis of the proposals set out in the Trakatellis report adopted by the European Parliament last spring but member states refused to subscribe to mentioning the need to ensure long term funding for Orphanet in the recommendation adopted by the Council of Ministers on 9 June. Under these conditions, one might wonder whether the wish expressed by the European Commission and some member states to see the database work in 23 languages is consistent with the current budget that only just covers financing for the five languages currently available. (O.J./transl.jl)