Rare Disease Task Force moves forward on several fronts in 2008
The European Commission’s Rare Disease Task Force gathered in Luxembourg in November to review initiatives undertaken in 2008 and put future actions on the agenda. The Task Force has forks in several fires, and although the recent adoption of the Communication on Rare Diseases took centre stage, many other orders of business were brought up and moved forward.
European Reference Networks
The RDTF working group for European Reference Networks issued a report in July 2008 following a workshop that took place in March 2008. Many aspects of a possible policy to establish European Reference Networks require further clarification. Systematic analysis of the preliminary outcomes of the ten current pilot networks is needed in order to best shape policy. The RDTF scientific secretariat will contribute to this analysis which will be brought to the next RDTF meeting. The existing pilot networks can apply for an operational grant for one additional year. There is still a lot to do before going from a self initiated process to a direct designation of European Reference Networks. It was underlined that the mandate of potential European Reference Networks should be proportionate to a potential budget.
New Orphanet services
The new services developed by Orphanet in 2008 to better serve the RD Community were reviewed. These include the launch in March of a new portal fully accessible to disabled users and more user-friendly than the previous version of the website. In June the information provided for each rare disease was extended to include prevalence data, mode of inheritance, age of onset and causative genes. Orphanet also became cross-referenced with other gene databases such as HGNC, SwissProt, OMIM and Genatlas. Information on expert clinics in Europe was extended to allow sorting by various criteria (type of clinic, paediatric or adult, centre of reference, disease management or genetic counselling). Via a collaborative effort with FP6 network of excellence EuroGentest, the information on medical laboratories was enhanced to encompass information on quality management. Finally, the results of a three-year classification project were unveiled in October. Each rare disease in the Orphanet database is now assigned to one or more classifications depending on the number of clinical manifestations requiring specialised medical expertise. Certain classifications are based on disease mechanism or aetiology. This new feature permits access to all information through any general query, along with the direct visualisation of these classifications.
Indicators
The conclusions of the RDTF working group on indicators in the field of RD were presented, following a meeting in March 2008 and a report published later in the year. The work plan for the coming three year period was presented, as defined by the Joint Action selected for funding this fall which will officially commence in January 2009. The relative merits of aggregated indicators versus disease-specific indicators were discussed. Currently no decision has been taken regarding indicators to be documented. This will be discussed at the next meeting of the working group.
Coding and classification
The working group for coding and classification held a meeting in February 2008 and again on 14 November 2008. The work accomplished by Orphanet in this field was presented. Currently, all published classifications in the field of RD have been collected and added to the Orphanet database. Orphanet has also established a general classification by medical speciality and sub-specialty. All the data have been transferred to the World Health Organisation headquarters to be used as a pilot set of data for the alpha version of the next International Classification of Diseases. Orphanet has established a unique nomenclature of RD which is available to third parties on request. The work plan for the three years to come, as defined by the Joint Action, includes a cross-referencing of Orphanet diseases with ICD10, OMIM, SnoMed-CT and MedDRA. It also includes proposing codes for all recurrent RD in the next edition of the ICD. The proposal will be submitted to WHO by the end of 2009. Classification in the field of RD is the responsibility of the WHO Topic Advisory Group, chaired by Ségolène Aymé. European Commission funding is instrumental in providing the resources to generate proposals to the WHO. The US NIH, along with other equivalent bodies in different regions of the world, will participate in commenting on the proposals and making final decisions.
Outcome of the 2008 call for proposals in the field of Public Health
Six rare disease projects were selected for funding in the field of Public Health in 2008. Not all negotiations are completed yet. The six projects are:
The next RDTF meeting is scheduled for Thursday 30 April 2009 in Luxembourg.
