WIREDGOV

Rare diseases cause great suffering to many EU citizens. Up to 36 million Europeans are affected, and need proper diagnosis and treatment.

A Eurobarometer survey published this week, on the 4th World Rare Diseases Day, and on the day of the formal adoption of the Cross Border Healthcare Directive, reveals widespread support for action on rare diseases at EU level.

95% of respondents believe there should be more European cooperation in this area and that rare disease patients should have the right to access appropriate care in another Member State.

Approximately 2 out of every 3 respondents know that rare disease affect a limited number of people and require very specific care. Almost 1 in every 5 personally knows of someone suffering from a rare disease.

John Dalli, European Commissioner for Health and Consumer Policy, said: "I am encouraged to see that EU citizens want more European co-operation on rare diseases. This is important, because the required medical expertise may not be available within national borders. On this 4th World Rare Diseases Day, I want to stress that the European Commission is engaged in added value action to help citizens access the care they need across the EU."

The survey was conducted in all 27 Member States between 25 November and 17 December 2010, in order to examine Europeans' awareness and knowledge of rare diseases and their support for policy initiatives and actions taken at national and EU level. Some key findings from the survey:

Good general understanding, but detailed knowledge and awareness remain low

• 63% chose the correct definition of rare diseases, while a minority (14%) believe that these are conditions that cannot be treated and that nobody cares about.

• 17% of those surveyed know someone suffering from a rare disease, but a larger proportion (40%) have never heard of anyone affected.
  
  

Strong support for action at National and European level

• Almost all agree that national health authorities should give support to those suffering from rare diseases (96%) and fully reimburse their medication, even if it is very expensive (93%).

• 95% agree that there should be more European cooperation, and that those affected should have the right to access appropriate care in another Member State. There is also wide support for introducing national strategies for rare diseases.
  
  

Support for improved research, access to care and awareness raising

• Over 90% of respondents agree that allocating resources for research, access to treatment, communication and patient support is justified.

• Almost all (96%) agree that resources should be allocated to help people suffering from rare diseases access drugs. Only 2% were opposed to this.

• 60% agree that allocating resources to improve awareness of rare diseases is justified and a further 33% think it is somewhat justified.
  
  

Support at EU level
A disease or disorder is defined as rare in the EU when it affects fewer than 5 per 10,000 citizens¹. Some well known rare diseases are Cystic fibrosis, Haemophilia and Duchenne muscular dystrophy. A series of EU initiatives aim to improve the coordination and coherence of national, regional and local initiatives addressing rare diseases. The European Commission adopted a Communication on Rare Diseases in 2008 and a Council Recommendation on Action in the field of Rare Diseases was adopted in 2009. The Commission has also established an EU Committee of Experts on Rare Diseases (EUCERD) which met for the first time last December.

The Commission promotes joint actions which help patients and professionals share information and expertise across borders. Specific measures on improving visibility of rare diseases, supporting national action plans, strengthening European level coordination and cooperation and encouraging more research have been adopted by the Commission.

For more than 10 years, the EU Regulation on orphan medicinal products has provided incentives for the development of medicinal products to diagnose prevent or treat rare diseases in the EU. This Regulation is an important instrument in facilitating the development of medicines for Europeans suffering from rare diseases, since the pharmaceutical industry may not be willing to develop such products under normal market conditions.

Given that many rare diseases affect only a few individuals in any given country, the added value of European and international research cooperation is immense.

Since 1998, the EU's Research Framework Programmes have allocated more than €500 million to 156 projects linked to rare diseases. The Commission is committed to investing at least a further €100 million euro under its next calls for proposals in summer 2011.

The Commission's Research and Innovation Directorate-General has also joined forces with the US National Institute of Health to coordinate rare diseases research and this collaboration will from spring 2011 also be open to other countries.

Lastly, the Directive on Patients' Rights in Cross-border Healthcare, to be adopted today, will benefit patients seeking safe and good quality treatment across EU borders. The Directive foresees the creation of national contact points that provide information to EU citizens seeking healthcare abroad. It is especially helpful for rare diseases, where patients often deal with scarcity of expertise and delayed diagnosis. Measures foreseen in the Directive will help with diagnosis when the best expertise is in another Member State.

Through the development of European reference networks and eHealth tools, expertise will be better disseminated throughout Europe between these specialised centres and other health professionals (such as a local 'family' doctor trying to diagnose a rare disease in a patient). Also, the Directive recommends that prior authorisation for cross-border treatment abroad should not be refused to a rare disease patient, without carrying out an appropriate clinical evaluation by an expert in that field.

Further information:

The Eurobarometer reports can be found at:
http://ec.europa.eu/health/eurobarometers/index_en.htm

More information on public health actions on rare diseases:
http://ec.europa.eu/health/rare_diseases/policy/index_en.htm

More information about the European Union Committee of Experts on Rare Diseases:
http://www.eucerd.eu/

More information on research on rare diseases:
http://ec.europa.eu/research/health/medical-research/rare-diseases/index_en.html

More information on cross-border healthcare:
http://ec.europa.eu/health/cross_border_care/policy/index_en.htm

More information on the Rare Diseases Day:
http://www.rarediseaseday.org/

For more details and examples of EU projects:
http://ec.europa.eu/research/index.cfm?pg=newsalert&lg=en&year=2010&na=na-281010"

MEMO/11/32

¹ : Orphan Drug Regulation 141/2000 and Council Recommendation of 8 June 2009 on action in the field of rare diseases.