France starts 2009 with a resolution to create an even stronger national plan for rare diseases
Heralded as a model by countries throughout Europe and the world, the French National Plan for Rare Diseases underwent an audit earlier this month. The comprehensive scheme reached the end of its four-year term in December 2008. In October 2008, a collective sigh of relief was heard upon the announcement of French President Nicolas Sarkozy that the plan would be renewed following a period of appraisal and reprioritisation designed to enhance the optimisation of resources and services for the benefit of the Fifth Republic’s rare disease patients. The New Year celebrations had barely drawn to an end before French experts were gathering to review and analyse the achievements and bottlenecks of the ten-pronged plan and to start the debate over which elements to include in the new version, scheduled to appear in 2010. (Ongoing projects will continue to be funded through the one-year interim period of 2009). Of the plan’s ten strategic priorities, some elements have succeeded better than others. While some efforts moved forward to yield stunning results, a few initiatives barely got off the ground for a variety of reasons. The ten major priorities of the French plan are as follow:
1: Increase knowledge of the epidemiology of rare diseases
2: Recognise the specificity of rare diseases
3: Develop information for patients, health professionals and the general public concerning rare diseases
4: Train health professionals to better identify rare diseases
5: Organise screening and access to diagnostic tests
6: Improve access to treatment and the quality of patient care
7: Continue efforts in favour of orphan drugs
8: Respond to the specific accompaniment needs of people suffering from rare diseases
9: Promote research on rare diseases
10: Develop national and European partnerships
Of these ten elements, the third, centred on developing and disseminating information, has been one of the most successful. Two entities that have contributed to the efficacious distribution of information are i) the centres of reference that France has designated for specific rare diseases and ii) the informational services developed by Orphanet – of which the many services offered, including a database of over 5000 rare diseases available in five European languages, the creation of a nomenclature and medical/scientific classification for rare disorders is moving forward the process of establishing harmonisation between regions and countries. Other accomplishments of the French plan include the recognition of the profession of genetic counsellor fulfilled under the fourth priority and the designation of over 130 centres of reference for rare disorders under priority six, “Improve access to treatment and the quality of patient care”. Priority seven, “Continue efforts in favour of orphan drugs” has been achieved due in part to the forward-thinking reimbursement policies France has established that guarantee equity to its rare disease patients. The ninth priority, “Promote research on rare diseases” has also enjoyed strong results. The sums invested in fundamental and clinical research have doubled in France. Amongst the areas that didn’t get very far, under priority one, "Increase knowledge of the epidemiology of rare diseases", the committee to designate rare disease registries was established late in the game, resulting in the designation of only six rare disease registries by the end of the term of the plan. Priority two “Recognise the specificity of rare diseases” saw the development of some 30 National Diagnosis and Treatment Protocols that have had positive consequences for patients (all products mentioned in these official guidelines are subject to reimbursement, including non-medical products such as nutritional supplements and special creams), but with over 6000 recognised rare diseases, there is clearly some distance yet to go. Other points that did not get out of the starting gate include priority five: “Organise screening and access to diagnostic tests” and priority eight: “Respond to the specific accompaniment needs of people suffering from rare diseases” – although other initiatives within the French government are meeting some of these objectives. The next step will be the release of a report from the Public Health Council, based on the findings of an official evaluation committee and other key players, due out in March 2009. In the meantime, a French-language website created by the evaluation committee is available from which to monitor the ongoing assessment process.