European networks of reference for rare diseases

Introduction

The content hereunder describes the work carried out before the adoption of the new rules regarding the European Reference Networks (March 2014)

European reference networks (ERNs) for rare diseases should serve as research and knowledge centres, updating and contributing to the latest scientific findings, treating patients from other Member States and ensuring the availability of subsequent treatment facilities where necessary. The definition of ERN should also reflect the need for services and expertise to be distributed across the EU.

In 2005, the Rare Diseases Task Force Working Group on centres of reference submitted its first report: Overview of current Centres of Reference on rare diseases in the EUpdf, including Annexespdf, to the Commission's High Level Group on Health Services and Medical Care. The report was used to feed a general reflection on the establishment of clinical centres of reference in Europe, based on the example of centres of reference for rare diseases.

In 2006, the Rare Diseases Task Force Working Group on centres of reference submitted its second report Centres of Reference for rare diseases in Europe: State-of-the-art in 2006 and recommendations of the Rare Diseases Task Forcepdf(379 KB).The report detailed the use of the concept of centres of reference and their functions.

Definition of centre of reference in European countries

There is no common definition of what a centre of reference is among those Member States which have established such centres. Even the definition of a rare disease varies between countries with official centres of reference, although there is a well-defined prevalence in Europe qualifying a disease as rare. The UK uses 1 in 50 000, Sweden and Denmark use 1 in 10 000, while France, Italy and Spain use the EU definition of 1 in 2 000.

The number and geographical distribution of centres per country vary from one country to another and are not proportional to the size of the population, reflecting differences in the organisation of health care systems. Some countries take a national approach to the concept (e.g. Bulgaria, UK, Belgium, France, Greece, the Netherlands), while others takle a more regional one (e.g. Spain, Italy, Sweden). Most countries have not yet started identifying their expert centres.

Identifying and designating centres of reference at national level

The process for identifying, selecting and designating centres of reference for rare diseases varies markedly from one country to another.

In the UK, centres must apply to the National Specialist Commissioning Advisory Group (NSCAG) to become a reference centre. There is no specific call for proposals and no overarching national strategy. The call is permanently open. NSCAG was established in 1996 to advise Ministers on the identification and funding of services where central intervention in the local commissioning of patient services was needed to ensure clinical effectiveness, equity of access and/or economic viability. It superseded the Supra-Regional Services Advisory Group.

In France, the centres apply annually through a competitive call for proposals. Applications are reviewed by an advisory committee [Comité National Consultatif de Labellisation des centres de reference de maladies rares (CNCL)] composed of experts, patients’ representatives, and members of learned societies and relevant authorities. The selection criteria are transparent.

In Italy, the designation of reference centres is in the remit of the Regional authorities, although uniform criteria for definition have not yet been agreed. However, there is a national conference of the regions, and more uniform criteria may be set out in the future.

Denmark has established two designated centres for rare diseases at university hospital level, in addition to 100 specialised clinics. The final selection was done by the National Board of Health after consulting the learned societies, public authorities and patients’ organisations.

The reason for designating centres of reference differs from one country to another. In principle, there are two main purposes. Firstly to provide a rating scheme that enables consumers to identify the appropriate health-care resource for their case. The objective of a rating scheme is to guide consumers to trustworthy health information and empower them to select high-quality services for referral. The same rating scheme should be used in all Member States.

Secondly, to enable health-care managers identify where best to allocate financial resources. Designated centres have both rights and duties that require additional staff and resources -  designation as a centre of reference increases referral rates and the number of requests for expert opinions. In addition, centres of reference must be involved in clinical research, issue best practice guidelines and produce information leaflets for patients.

The overview of centres of reference in the different Member States shows that:

  • only very few countries have official centres of reference;
  • the official centres of reference cover very different types of centres;
  • the concept of the centre of reference is not used by some Member States with a regionally-organised health care system and a low level of coordination between regions;
  • many centres of expertise, acting as centres of reference, are not labelled as such but are well established by reputation.

See Overview on national listings of centres of reference in Europepdf(164 KB) Choose translations of the previous link Deutsch (de) español (es) français (fr)

On 24 October 2011, during the third meeting of the European Union Committee of Experts on Rare Diseases (EUCERD), the Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States were unanimously adopted. Developing Centres of Expertise and European Reference Networks in the field of rare diseases has been proposed in the Council Recommendation on an Action in the Field of Rare Diseases and more recently in the Cross-Border Healthcare Directive as a means of organising care for the thousands of heterogeneous rare conditions affecting scattered patient populations across Europe. In order to share knowledge and expertise more efficiently, the EUCERD recommendations seek to introduce harmonious standards of quality practices by elaborating criteria for the Member States to incorporate into their process to designate Centres of Expertise. The 45 Recommendations build upon this work already achieved and assist the Member States to develop their healthcare pathways at both the national and EU levels in the field of rare diseases. The recommendations cover the Mission and Scope of the Centres of Expertise; the Criteria for Designating Centres of Expertise; the Process of Designating and Evaluating National Centres of Expertise; and the European Dimension of Centres of Expertise.

The EUCERD Recommendations on Quality Criteria for Centres of Expertise for Rare Diseases in Member States are available on:
http://nestor.orpha.net/EUCERD/upload/file/EUCERDRecommendationCE.pdfpdf

Identifying and designating European reference networks

Background information on the concept of Centers of Expertise and Rare Diseases

The content hereunder describes the work carried out before the adoption of the new rules regarding the European Reference Networks (March 2014)

In 2005-2006, the High Level Group on Health Services and Medical Care proposed a number of criteria for European reference centres.

Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011

Article 12 of the Directive 2011/24/EU of the European Parliament and of the Council of 9 March 2011pdf on the application of patients' rights in cross-border healthcare gives incentives to Member States to reinforce the continued development of European Reference Networks (ERN). Recital 54 of the Directive further clarifies that the main added value of the ERN and therefore of the Centres of Reference is to facilitate improvements in access to diagnosis and delivery of high-quality, accessible and cost-effective healthcare in the case of patients who have a medical condition requiring a particular concentration of expertise or resources, particularly in medical domains where expertise is rare.  It further clarifies that ERN could also be focal points for medical training and research, information dissemination and evaluation, especially for rare diseases. Article 12.4(a) of the Directive requires the Commission to adopt, via delegated acts, a list of criteria that the networks must fulfil, and the conditions and criteria which providers wishing to join networks must fulfil.

The Commission is also required to develop and publish criteria for establishing and evaluating ERN and it must facilitate the exchange of information and expertise on the establishment of the networks and of their evaluation. These two points are to be done via implementing acts. It is important to point out that the Directive is not aiming to "create" new centres, but to identify already established centres of expertise and to encourage voluntary participation of healthcare providers in the future ERN. To prepare these acts, the Commission carried out an intensive consultation process. In respect of delegated acts, the Commission created an expert group to act as a forum for this consultation. This expert group consisted primarily of national experts of all Member States. In the case of the implementing acts the Commission was assisted by the Committee on cross-border healthcare composed of Member States representatives created the 21st of June 2011.
See: http://ec.europa.eu/health/cross_border_care/legislative_framework/index_en.htm Choose translations of the previous link български (bg) čeština (cs) dansk (da) Deutsch (de) eesti keel (et) ελληνικά (el) español (es) français (fr) hrvatski (hr) italiano (it) latviešu valoda (lv) lietuvių kalba (lt) magyar (hu) Malti (mt) Nederlands (nl) polski (pl) português (pt) română (ro) slovenčina (sk) slovenščina (sl) suomi (fi) svenska (sv)

This has been achieved through the adoption of:

Both decision were adopted the 10 of March of 2014. Entry into force foreseen by May 2014.

Diagnosis and care: how can centres of reference best serve rare disease patients?

The content hereunder describes the work carried out before the adoption of the new rules regarding the European Reference Networks (March 2014)

In the RAPSODY (Rare Disease Patient Solidarity) project, eleven workshops took place in Europe, during March and April 2007 , with the objective of opening or continuing dialogue between patient representatives, health policy makers and health care professionals about national centres of expertise and European reference networks of centres of reference for rare diseases.

After each meeting, a synthesis was written and the responses to the main questions addressed were presented at the European Workshop on Centres of Expertise and Reference Networks for Rare Diseases (July 12th-13th 2007). The reflection was based on the reportpdf(379 KB) from the Working group of the Rare Diseases Task Force first published in September 2005 and updated in December 2006.

Participants at the workshops were first asked to respond to the following questions:

From the patient's organisations point of view European Reference Networks (ERN) should

(1) Have professional qualification and clinical and scientific experience;

(2) Be committed to cooperate & share information;

(3) Permit patient’s access to a multidisciplinary team of experts;

(4) Pay attention tocoordination between professionals and a global approach (holistic, comprehensive) between medical and social levels;

(5) Agree best practice, standards and guidelines for diagnosis and treatment;

(6) Disseminate of European reference diagnostic and therapeutic protocols to ensure equity at EU level;

(7) Perform education, information, communication activities to empower patients;

(8) Collaborate with patient organisations;

(9) Be initially evaluated and accredited at EU level and regularly assessed; and

(10) Be aware of the importance of flexibility as to the types of centres belonging to the networks and their geographical location.

See Summary of Proposal (Draft for discussion) “Expectations and Eligibility Criteria for European Reference Network of Centres of Expertise for Rare Diseases”pdf(109 KB) presented to the European Conference on Rare Diseases (Lisbon, November 2007).

See Final Report of the European Workshop on Centres of Expertise and Reference Networks for Rare Diseases (July 12th-13th 2007)pdf.

Pilot projects

The content hereunder describes the work carried out before the adoption of the new rules regarding the European Reference Networks (March 2014)

The Work Plan 2006 for the implementation of the EU public health programme, introduced for the first time as a priority in the area of rare diseases: to develop Pilot European Networks of Centres of Reference for Rare Diseases. According to this priority 10 Projects have been selected for funding between 2006 and 2009: