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National Plans on Rare Diseases

  • Domenica TaruscioEmail author
  • Amalia Egle Gentile
  • Marta De Santis
  • Rita Ferrelli
  • Rosa Giuseppa Frazzica
  • Georgi Iskrov
  • Rumen Stefanov
Chapter
  • 962 Downloads
Part of the Advances in Predictive, Preventive and Personalised Medicine book series (APPPM, volume 6)

Abstract

This paper aims to describe the state-of-the-art of national plans for rare diseases (RD) in EU Member States, pointing out common as well as country-specific features and approaches. It critically assesses the national achievements in this field, drawing conclusions to further strengthen the process of planning, implementing and evaluating RD national policies.

A national plan for RD can be defined as an official strategic public health document, issued by the government, containing specific priorities, objectives, strategies, actions, a timetable for implementation and a dedicated budget. For the last decade, RD have steadily emerged as top public health priority of the EU health policy. RD national plans are consistently being identified as the main strategic instrument to address the complex RD issues. This political tool is advanced at both EU and Member State level, because it provides a uniform approach for the implementation of the common EU objective: ensuring equal access and availability of prevention, diagnosis, treatment and rehabilitation to people with RD. However, at the same time it is flexible enough to give opportunities to the national authorities to adopt country-specific measures as well.

Since the first national plan for RD in France, dating back to 2004, such strategic public health documents are now being elaborated in a growing number of countries and, virtually, all EU Member States are working on drafting and adopting RD national plans in accordance with EU recommendations. Meanwhile, the European Commission has supported and guided national authorities, namely through the European Project for Rare Diseases National Plans Development (EUROPLAN). EUROPLAN has effectively stimulated expertise sharing and consensus building, ensuring that all Member States RD activities are coherent and consistent with the EU policy and with the current RD best practices. Furthermore, EUROPLAN has provided relevant support regarding two key aspects of RD national plans: the processes of planning and that of evaluating RD plans. As a policy strategy, RD national plan’s overall success heavily depends on the initial planning’s effectiveness and on the final evaluation’s results. As well, the availability of dedicated funds plays a crucial role in the implementation of NP for RD.

Keywords

Rare diseases EU policy National plans EU collaboration Health policy Council’s Recommendation EUROPLAN 

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Copyright information

© Springer Science+Business Media Dordrecht 2015

Authors and Affiliations

  • Domenica Taruscio
    • 1
    Email author
  • Amalia Egle Gentile
    • 1
  • Marta De Santis
    • 1
  • Rita Ferrelli
    • 1
  • Rosa Giuseppa Frazzica
    • 1
  • Georgi Iskrov
    • 2
  • Rumen Stefanov
    • 2
  1. 1.National Centre for Rare DiseasesIstituto Superiore di SanitàRomeItaly
  2. 2.Clinical and Information Centre for Rare DiseasesPlovdivBulgaria

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