The RARE 2011 conference was an exceptional opportunity to focus on the development of effective policies and infrastructure for rare diseases. Speakers, including representatives from Orphanet, public bodies, funding organisations, patient associations, research centres, and industry, analysed the obstacles and achievements in European management of rare diseases.
One of the greatest obstacles is lack of reliable, accessible and well-organised knowledge. Firstly, there is little known medically and scientifically about many rare diseases. For example, two common situations for a rare disease, a wide and sparsely spread population and a large range of symptoms, mean that meagre amounts of data are available on the progression of a given disease. While certainly more research is required, a practical tool emphasised throughout the meeting was the patient registry. A patient registry, open to and well-maintained by an international community of researchers, would allow greater insight into epidemiology, genotype-phenotype correlations and so on. A patient registry would also make it easier to run a good clinical trial, because, for example, researchers could show the effect of a treatment more clearly.
While the obstacles are significant, recent achievements and new opportunities promise an exciting future for tackling rare diseases. One of these is the International Rare Disease Consortium (IRDiRC), a body jointly established by the European Commission, the National Institutes of Health in the United States and the Canadian Institutes for Health Research. IRDiRC’s goals for 2020 are to produce diagnostic tests for most rare diseases, and to develop 200 new therapies for rare diseases. Also of significant note is the creation of National Foundation for Rare Diseases in France (Fondation des Maladies Rares). Part of the Foundation’s plans is the establishment of more centres of excellence, standardised protocols and a national bank for rare diseases. Orphanet is also continuing to develop reliable, well-organised knowledge and to raise the visibility of rare diseases in all medical settings by contributing to the International Classification of Diseases (ICD). The ICD, managed by the World Health Organisation, is an international system for organising/coding diseases on medical records, and is used in a wide variety of studies such as gathering disease statistics. All previous versions of the ICD do not include codes for rare diseases. Many processes in managing a rare disease are made more complex by this exclusion, from gathering epidemiological information to including a rare disease diagnosis in a patient’s medical record.
Emerging over the meeting was a sense of anticipation built on considerable accomplishment. With the creation of IRDiRC and inclusion of rare diseases in the new ICD, it seems rare diseases are gaining much more of a public health presence. As new initiatives and programmes begin to act and bear fruit in 2012, there is much hope for substantial change in the current ways of understanding, diagnosing, managing and treating rare diseases.