EU Rare Diseases Policy
Rare Diseases - What are They?
Life-threatening or chronically debilitating diseases - mostly inherited - that affect so few people that combined efforts are needed to:
- reduce the number of poeple contracting the diseases
- prevent newborns and young children dying from them
- preserve sufferers' quality of life and socio-economic potential
In EU countries, any disease affecting fewer than 5 people in 10,000 is considered rare. That number may seem small, but it translates into approximately 246,000 people through the EU's 27 member countries. Most patients suffer from even rarer diseases affecting 1 person in 100,000 or more.
It is estimated that today in the EU, 5,000-8,000 distinct rare diseases affect 6-8% of the population - between 27 and 36 million people.
Many congenital anomalies are rare diseases (http://www.eurocat-network.eu/content/Special-Report-Major-Group-of-Mainly-Rare-Diseases.pdf), and European surveillance of congenital anomalies (EUROCAT) is part of what the EU is doing about rare diseases.
For more information about EU rare diseases policy see http://ec.europa.eu/health/rare_diseases/policy/index_en.htm
European Commission's Perspective on Developing Health Surveillance and Rare Diseases Action
A Montserrat and Karl Freese
(from EUROCAT Symposium on Prevention of Congenital Anomalies, Bilbao, Spain, June 2009)
Rare diseases, including those of genetic origin, are life-threatening or chronically debilitating diseases which are of such low prevalence (less than 5 per 10,000) that special combined efforts are needed to address them so as to prevent significant morbidity or perinatal or early mortality or a considerable reduction in an individual's quality of life or socio-economic potential. It is estimated that between 5,000 and 8,000 distinct rare diseases exist today, afeting between 6% and 8% of the population in total. In other words, between 27 and 36 million people in the European Union (with 27 Member States) are affected by a rare disease. The specificities of rare diseases - limited number of patients and scarcity of relevant knowledge and expertise - single them out as a unique domain of very high European added-value. There is probably no other area in health where the collaboration between the 27 different national approaches can be as efficient and effective as rare diseases. The need to pool together the very limited resources could be better addresses in a co-ordinated way at EU level.
The objective of the European Union action in the field of rare diseases is to put together the necessary elements for an efficient overall strategy addressing the important issue of Rare Diseases in Europe. The strategic objective of the EC intervention in this field is aimed at improving the chance for patients to get appropriate and timely diagnosis, information and care through European action that can act more effectively than the Member States on their own. This requires:
- making rare diseases more visible through developing proper identification and coding of rare diseases, many of
which currently go unrecognised leading to inappropriate treatment for individuals and lack of appropriate resources
- encouraging EU - 27 in developing national plans for rare diseases in their health policies to ensure equal access
and availability of prevention, diagnosis, treatment and rehabilitation for people with rare diseases. More initiatives
in terms of public awareness-raising in the MS are needed. In addition to targeting public opinion, these efforts
should also be directed at professionals in healthcare and social services, decision-makers, managers of health
and social services and media.
- providing European support and co-operation, such as ensuring that common policy guidelines are developed and
shared everywhere in Europe; specific actions - in areas such as research, centres of expertise, access to
information, incentives for the development of orphan drugs and screening. Co-operation between exisitng
European programmes focused around this issue also needs to be improved.
Based in Article 152, a Community action programme on rare diseases including genetic diseases, was adopted for the period 1 January 1999 to 31 December 2003. Rare diseases were also one of the priorities in the EU Public Health Programme 2003-2007. Decision 1350/2007/EC of the European Parliament and of the Council adopting the second programme of Community action in the field of health (2008-2013) establishes in point 2.2.2 of the Annex: "Promote action on the prevention of major diseases of particular significance in view of the overall burden of diseases in the Community, and on rare diseases, where Community action by tackling their determinants can provide significant added valude to national efforts". The White Paper COM(2007) 630 final "Together for Health: A Strategic Approach for the EU 2008-2013" of 23 October 2007 developing the EU Health Strategy also identified rare diseases as a priority for action. A substantial contribution to advancing knowledge on rare diseases has been provided for two decades through collaborative and co-ordination research projects supported by the successive European Community Framework Programmes for Research and Technological Development. In the current framework programme, FP7, rare diseases have been recognised a priority for research activities.
An excellent example of the type of projects that the European Union can support in the field of rare diseases is EUROCAT (Surveillance of Congenital Anomalies in Europe). EUROCAT provides essential epidemiological information on congenital anomalies in Europe based on a common dataset with common coding as specified in the EUROCAT Guide and the EUROCAT Data Management Programme (EDMP) used by member registries for data input/import, validation and annual transmission of the Central Registry. They act as an information and resource centre for the population, health professionals and managers regarding clusters or exposures or risk factors of concern. They provide a ready collaborative network and infrastructure for research into the causes and prevention of congenital anomalies and the treatment and care of affected children, and survey policies and practices with regard to periconceptional folic acid supplementation.
Under normal market conditions, the pharmaceutical industry is reluctant to invest into medicinal products and medical devices for rare conditions because of the very limited market for each disease. Under the responsibility of DG ENTR and the EMEA (the European Medicines Agency) the EC implements a policy on Orphan Drugs. The Orphan Medicinal Product Regulation (Regulation (EC) No 141/2000 of the European Parliament and of the Council of 16 December 1999 on orphan medicinal products) was proposed to set up the criteria for orphan designation in the EU and describes the incentives (eg. 10 year market exclusivity, protocol assistance, access to the Centralised Procedure for Marketing Authorisation) to encourage the research, development and marking of medicines to treat, prevent or diagnose RD.
DG Sanco has established the High Level Group on Health Services and Medical Care (HLG) as a means of taking forward the recommendations made by the reflection process on patient mobility. One of the Working Groups of this High Level Group deals with reference networks of centers of expertise, in particular for rare diseases. Meanwhile the new Directive on the application of Patients' rights in cross border health care has been adopted by the European Parliament and the Council and has been published in the Official Journal (2011/0024/EU: http://eur-lex.europa.eu/Result.do?T1=V1&T2=2011&T3=0024&RechType=RECH_naturel&Submit=Search)
The Commission has adopted the "Commission Communication on rare diseases: Europe 's challenges" ( COM(2008) 679 : http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=COM:2008:0679:FIN:EN:PDF) the Council adopted the Council recommendation on action in the field of rare diseases under the Czech Presidency of the Council on 8 June 2009 (COUNCIL RECOMMENDATION of 8 June 2009 on an action in the field of rare diseases (2009/C 151/02: http://eur-lex.europa.eu/LexUriServ/LexUriServ.do?uri=OJ:C:2009:151:0007:0010:EN:PDF). Both initiatives aim to improve the chance for patients to get appropriate care and information on rare diseases and to reverse the current situation of uncertainty and invisibility for people suffering from a rare disease. Health professionals and public health authorities have insufficient knowledge of the majority of rare diseases. This lack of knowledge underlies diagnostic error - a great source of suffering for patients and their families - and delayed care provision, which can sometimes be prejudicial. Proposals are still being developed, but are currently structured around ten specific objectives and actions:
1. To improve information, identification and knowledge on rare diseases.
2. To improve prevention, diagnosis and care of patients with rare diseases.
3. To develop national/regional centres of reference and establish EU reference networks.
4. To help ensure equal access to all EU patients to orphan drugs and compassionate use.
5. To help to develop specialised and adapted social services for rare diseases patients.
6. To accelerate research and developments in the field of rare diseases and orphan drugs in order to strengthen
at European level the limited and scattered expertise on rare diseases.
7. To empower patients with rare diseases at individual and collective level.
8. To support implementation on National Plans for rare diseases.
9. To develop international co-operation on rare diseases.
10.To co-ordinate relevant policies and initiatives at EU level.
The Commission Communication , the Council Recommendation and the new Directive for the application of patients' rights in cross border health care will require intensive work on implementation. This will be followed and supported by the newly established EU Committee of Expertson Rare Diseases EUCERD: http://eur-les.europa.eu/LexServ/LexServ.do?uri=OJ:L:2009:315:0018:0021:EN:PDF) which currently discusses the road map for the implementation of the action items listed in the Commission Communication and Council Recommendation. This will include developing meansures and actions such as EU and International forms of cooperation on rare disease research, the ongoing review process of the current WHO/ICD 10 for developing the rare disease content of WHO/ICD11, which means the codification of more than 2,000 rare diseases in the next International Classification of Disease, the reporting on the bottlenecks in the existing system of orphan drugs, drafting EU guidelines on compassionate use, EU guidelines for the European reference Networks for rare diseases etc. .
For further information:
Congenital Anomalies as Rare Diseases - Relevant EUROCAT Publications
EUROCAT (2012), EUROCAT Special Report: Congenital Anomalies are a Major Group of Mainly Rare Diseases. EUROCAT Central Registry, University of Ulster [Report]
EUROCAT (2013), EUROCAT: A Potential Source of Prevalence Data for Orphanet. EUROCAT Central Registry, University of Ulster [Report]
Posada de la Paz M and Groft SC (2010), The Prevalence of Congenital ANomalies in Europe In: Rare Diseases Epidemiology. Advances in Experimental Medicine and Biology, Vol 686, pp 349-364.
EUROCAT/EUROPLAN (2013). Primary Prevention of Congenital Anomalies. EUROCAT Central Registry, University of Ulster [Report]