24 OCTOBER 2011


Centres of expertise (CE) and European Reference Networks (ERN) in the field of rare diseases (RD) are mentioned in the HLG Report of November 2005, the Communication from the Commission to the European Parliament, the Council, the European Economic and Social Committee and and the committee of Regions on Rare Diseases: Europe's challenges (11.11.08) challenges (11.11.08) and the Council Recommendation on an action in the field of rare diseases (08.06.09), as well as in the recommendations for National Plans and Strategies for Rare Diseases (Europlan) and in Articles 12 and 13 of the Cross-Border Healthcare Directive (09.03.2011).

An analysis of the current situation in Europe regarding CEs and ERNs was developed in the framework of the EC Rare Disease Task Force (RDTF) (2005-2009) and the European Union Committee of Experts on Rare Diseases (EUCERD) (2010-2011). Several reports were published as a result of workshops where stakeholders had the opportunity to express their views.
The current recommendations are directly derived from the following documents:

The specific excerpts of the above texts which have been carefully considered are given in Annex 1.


At the EUCERD workshop on National Centres of Expertise (CE) and European Reference Networks (ERN) for rare diseases (RD), held on 21-22 March 2011, it was proposed that the discussions would be used to fine tune the recommendations and concepts defined by the High Level Group on Health Care and Medical Services (HLG) and by the Rare Disease Task Force (RDTF).

Draft recommendations were elaborated by the EUCERD Scientific Secretariat from the documents published previously on national centres of expertise for rare diseases and ERNs which are cited in section 1. The draft recommendations were sent to all EUCERD members for their comments. Following this, a workshop was organised on 8 September 2011 with members of the EUCERD including member state (MS) representatives to discuss the wording of the recommendation. The revised draft recommendations were then submitted to all EUCERD members ahead of the 3rd EUCERD meeting on 24-25 October 2011, at which these recommendations were adopted by the Committee.

These recommendations are intended to help MS in their reflections or policy developments concerning national plans and strategies for rare diseases when addressing the issue of organisation of healthcare pathways at national and European level. They may be of help to the Cross Border Health Care Directive Committee in the context of their reflection on European Reference Networks.

Please note that the order of the recommendations in this document is not a


Mission and scope of centres of expertise (CEs) for rare diseases (RD) in Member States (MS)
  1. CEs tackle diseases or conditions requiring specific care due to the difficulty in establishing a diagnosis, to prevent complications and/or to set-up treatments.
  2. CEs are expert structures for the management and care of RD patients in a defined catchment area, preferably national, and at international level if necessary.
  3. The combined scope of all CEs within a MS covers all RD patients' needs, even if they cannot provide a full range of services with the same level of expertise for each RD.
  4. CEs bring together, or coordinate, within the specialised healthcare sector multidisciplinary competences/skills, including paramedical skills and social services, in order to serve the specific medical, rehabilitation and palliative needs of rare diseases patients.
  5. CEs contribute to building healthcare pathways from primary care.
  6. CEs have links with specialised laboratories and other facilities.
  7. CEs collaborate with patient organizations to bring in the patient perspective.
  8. CEs contribute to the elaboration of good practice guidelines and to their dissemination.
  9. CEs provide education and training to healthcare professionals from all disciplines, including paramedical specialists and non-healthcare professionals (such as school teachers, personal/homecare facilitators) whenever possible.
  10. CEs contribute to and provide accessible information adapted to the specific needs of patients and their families, of health and social professionals, in collaboration with patient organisations and with Orphanet.
  11. CEs respond to the needs of patients from different cultures and ethnic groups (i.e. have cultural sensitivity).
  12. According to national/international ethical and legal frameworks, centres of expertise should ensure respect of non-discrimination and non-stigmatisation of RD patients across Europe, within their sphere of competencies.
  13. CEs contribute to research, to improve the understanding of the disease and to optimise diagnosis, care and treatment, including the clinical evaluation of long-term effects of new treatments.
  14. The scope of diseases covered by each CE, or by a CE at national level, will vary depending on the size of the country and the structure of the national health care system.
  15. CEs liaise with other CEs at National and European level when relevant.
  16. A national directory of formally designated CEs is compiled and made publicly available, including on the Orphanet portal.
Criteria for designation of CEs for RD in MS
  1. Capacity to produce and adhere to good practice guidelines for diagnosis and care.
  2. Quality management in place to assure quality of care, including National and European legal provisions, and participation in internal and external quality schemes when applicable.
  3. Capacity to propose quality of care indicators in their area and implement outcome measures including patient satisfaction.
  4. High level of expertise and experience documented, for instance, by the annual volume of referrals and second opinions, and through peer reviewed publications, grants, positions, teaching and training activities.
  5. Appropriate capacity to manage RD patients and provide expert advice.
  6. Contribution to state-of-the-art research.
  7. Capacity to participate in data collection for clinical research and public health
  8. Capacity to participate in clinical trials, if applicable.
  9. Demonstration of a multi-disciplinary approach, when appropriate, integrating medical, paramedical, psychological and social needs (e.g. RD board).
  10. Organisation of collaborations to assure the continuity of care between childhood, adolescence and adulthood, if relevant.
  11. Organisation of collaborations to assure the continuity of care between all stages of the disease.
  12. Links and collaboration with other CE at national, European and international level.
  13. Links and collaboration with patient organisations where they exist.
  14. Appropriate arrangements for referrals within individual Member States and from/to other EU countries if applicable.
  15. Appropriate arrangements to improve the delivery of care and especially to shorten the time taken to reach a diagnosis.
  16. Consideration of E-Health solutions (e.g. shared case management systems, expert systems for tele-expertise and shared repository of cases).
Process for designating and evaluating CEs for RD in MS
  1. MS take action concerning the establishment and designation and evaluation of CEs and facilitate access to these centres.
  2. MS establish a procedure to define and approve designation criteria and a transparent designation and evaluation process.
  3. The designation criteria defined by MS are adapted to the characteristics of the disease or group of diseases covered by the CE.
  4. CEs may not fulfill some of the designation criteria defined by the MS as long as the absence of fulfillment of those criteria does not impact on the quality of care and as long as CEs have a strategy in place to attain designation criteria in a defined time period.
  5. The designation process at MS level ensures that the designated CEs have the capacity, and the resources to fulfill the obligations of designation.
  6. The designation of a CE is valid for a defined period of time.
  7. CE are re-evaluated on a regular basis through a process incorporated into the designation process at MS level.
  8. The designating authority at MS level may decide to withdraw the designation of a centre of expertise if one or more of the conditions that formed the basis for designation is no longer satisfied, or if there is no longer a need to maintain the national service.

The European dimension of CEs

  1. MS with established CEs share their experience and quality indicators with other MS and coordinate their efforts to identify CEs for all RD patients at EU level.
  2. Networking of CEs is a key element of their contribution to patient diagnosis and care, to ensure that expertise travels rather than patients themselves when appropriate; exchange of data, biological samples, radiological images, other diagnostic materials, and e-tools for tele-expertise are promoted;
  3. Cross-border healthcare is organised, where appropriate, with designated CEs in neighbouring or other countries, where patients or biological samples can be referred to;
  4. Member States should provide adequate information to professionals, citizens and patients organisations concerning the possibilities and conditions of access to health care at national and international levels in the field of rare diseases.
  5. Designated CEs at MS level are the key elements of the future ERNs.

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