Evolution of national and European policies in the field of rare diseases and their impact over the past five years

The 2009 Council Recommendation on an Action in the Field of Rare Diseases (2009/C 151/02) [1] encouraged Member States to elaborate a national plan or strategy for rare diseases before the end of 2013. One of the principal tasks of the European Union Committee of Experts on Rare Diseases (EUCERD) [2], through its Scientific Secretariat, was to analyse the results of the actions cited in the Recommendation, notably through the production of the annual report on the ‘State of the Art of Rare Disease Activities in Europe’ [3]. The 2014 edition of the report considers the impact of European policy and national plans/strategies (Figure 1) on the organisation of health care and services for patients with rare diseases, including access to diagnosis and treatment, as well as considering progress in the field of registries, rare disease research initiatives, the genetic testing offer, access to information on rare diseases, patient organisations, and specialised social services. In terms of national plans and strategies for rare diseases, by end 2013, the deadline to elaborate national plans/ strategies for rare diseases fixed by the Council Recommendation, most EU Member States had submitted