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Rare diseases

The number of rare diseases is currently between 5000 and 8000. They affect between 6 % and 8 % of the population in the course of their lives - 27 to 36 million people in the European Union. Due to their rare nature, these diseases require a particular approach and a priority level of treatment at international level in order to improve the quality of life and the socio-economic potential of patients suffering from them.

ACT

Council Recommendation 2009/C 151/02 of 8 June 2009 on an action in the field of rare diseases.

SUMMARY

This Recommendation aims at introducing measures at European level to increase level of knowledge on rare diseases, as well as improve the quality of life and care of patients.

Plans and strategies

The European Commission recommends that Member States introduce plans or strategies to combat rare diseases. The aim is provide patients suffering from these diseases with high quality care, diagnosis, treatment and effective orphan drugs.

In this regard, Member States are encouraged to adopt a plan or strategy under their respective social and health schemes by 2013. These plans or strategies should integrate all current and future initiatives at local, regional and national levels in the field of rare diseases.

These national initiatives should form part of the framework of the European Project for Rare Diseases National Plans Development (EUROPLAN), which itself belongs to the Community action programme in the field of public health for 2008-2013.

Definitions, codification and inventorying

At present, a rare disease is defined as such if it does not affect more than 5 in 10 000 persons. The Commission considers this definition needs expanding and encourages Member States to work together on a definition which takes into account the parameters of incidence.

The Commission action aims to facilitate the coding and traceability of rare diseases in all health information systems, and particularly in the future version of the International Classification of Diseases (ICD). An inventory could be established on the basis of the Orphanet network or other networks.

Member States are called upon to support specific information networks, registers and databases relating to diseases.

Research

Current knowledge in research on rare diseases should be updated.

Needs and priorities should be determined in the field of basic, clinical, translational and social research before encouraging national researchers to participate in this kind of programme.

The European Commission is responsible for establishing cooperation with third countries and fostering the exchange of information and the sharing of expertise.

Centres of expertise and European Reference Networks

The Commission invites Member States to identify qualified centres of expertise by the end of 2013 and ensure that these centres benefit from support measures. These centres are to be encouraged to participate in European Reference Networks and to develop a multidisciplinary approach.

Healthcare pathways for patients suffering from a rare disease should be created through cooperation between experts and professionals in this field. Experts should be mobile in order to facilitate the treatment of patients in their own environment.

Information and communication technologies (ICTs) such as telemedicine should be integrated, ensuring distant access to specific healthcare.

Gathering expertise at European level

The Commission considers it crucial to gather different national experts in the field of rare diseases together in order to support:

  • the exchange of best practice in terms of diagnostic tools and medical care as well as education and social care;
  • teaching and training for healthcare professionals;
  • medical training in the diagnosis of diseases and aspects related to genetics, immunology, neurology, oncology or paediatrics;
  • guidelines on population screening;
  • exchange of information between Member States.

Empowerment of patient organisations

The creation and development of associations for patients suffering from rare diseases are encouraged insofar as this facilitates access for patients to up-to-date information.

Context

A first Community action programme on rare diseases covering the period 1999 to 2003 defined a rare disease as a disease affecting less than 5 in 10 000 persons. Its aim was to improve knowledge in this field. This Recommendation forms part of this perspective and aims to enhance cooperation and knowledge in order to improve cover and treatment for rare diseases.

RELATED ACT

Commission Decision No (EC) 2009/872 of 30 November 2009 establishing a European Union Committee of Experts on Rare Diseases
This Decision establishes an EU committee of experts on rare diseases. The committee is tasked with:

  • implementing Community action programmes;
  • preparing Commission reports;
  • providing opinions and recommendations;
  • assisting the Commission in disseminating the measures taken at Community level, as well drawing up guidelines.

The Committee comprises 51 members and their alternates. The Committee shall be convened by the Commission and shall meet on its premises three times a year.

Last updated: 11.06.2010
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