European Centres of Reference

A major step for the establishment of the future networks

An expert group on European Centres of Reference (ECR) was set up in 2005, including most of the Rare Diseases Task Force (DG Sanco) members, opinion leaders in the field, and representatives of the European Commission. The expert group handed over its final report in September 2005.

The report stresses the variability by Member state of the concept of Centre of Reference and of the definition of what constitutes a rare disease. The number of centres per country varies and reflects differences in the organisation of the national health care systems. Some countries such as Denmark, the UK, France and Belgium have adopted national approaches to the concept while others have adopted regional approaches. France, Germany and Spain are the only countries with national programmes for funding research networks in the field of rare diseases.

The report puts forward several recommendations, among which:

• Define rare diseases by a prevalence lower than 1/2,000 which is the EU definition found in the Orphan Drug Legislation
• Adopt specifications for ECRs
• Continue establishing lists of expert centres
• Apply ECR criteria to expert centres
• Provide funding for mapping and networking of existing expert centres, developing computerised systems for sharing medical files, designating ECRs, and disseminating the information to all stakeholders.

The concept of Centres of Reference is a positive step forward for rare disease patients in Europe. 'Patients will be able to access teams who have great familiarity with their condition and can offer truly expert care,' says Edmund Jessop, Chair of the Task Force. 'In 5 or 10 years, if the concept is successful, the centres will offer protocols and training so that wherever in Europe they live, patients can benefit from the best of modern care. Staff at the centres will be able to liaise with colleagues in other centres to talk through difficult problems and develop consensus ideas.' However, there are also some concerns. 'Some people fear that some hospitals may “lose out” if they are not designated as centres of reference. Some countries also worry about spending too much if patients travel to other countries for treatment. And the centres of reference could possibly be overwhelmed if too many patients go to them.'

What is now needed to move forward is feedback on the experience and needs of patient groups and professionals regarding rare disease specialised points of care, whether they be called centres of reference, expert centres, or something else. In a survey conducted by Eurordis in 2005, 60% of patient organisations state that there is a centre of reference in their country for the disease the organisation represents, and 84% of those who state that none exists are advocating for one. Eurordis has also initiated a large project, Rapsody, funded by the European Commission. Within the framework of this project, a work package led by Rare Disorders Denmark will focus on centres of reference. It will provide an ongoing comparison of national policies on centres of reference and a mapping of existing European centres of reference and expert centres (or equivalent). A two-day workshop on the topic will also be held in Prague in spring 2007. It will bring together patient representatives, professionals and health care system policy makers, to establish clearer definitions, adopt specifications for ECRs and expert centres, and recommend best practices for European networking of centres of reference. Eurordis' Board decided in October 2005 to make this topic one of Eurordis' priorities for 2006 and 2007.

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

Drawing on ten years of experience, Torben Grønnebæk from Denmark believes “the only sensible option is for healthcare for rare disease patients to be organised on a European level”. Having made recommendations in 1990 and established two centres of reference in 1993, Denmark is at the forefront. Based on his own experiences and those of the families he is in contact with through the Danish rare diseases national alliance that he runs (Rare Disorders Denmark), he also believes that “you cannot systematically impose long journeys on families to obtain healthcare”, quoting as impediments to travel physical incapacity, daily life, health and economic factors. How can the questions of proximity and quality of care be reconciled given that disease rarity necessitates the exchange of knowledge, the setting-up of specialist teams and a challenge to ever-present cost rationalisation? Health professionals themselves often have to consult specialists and superspecialists to confirm a diagnosis or to recommend a specific therapy.

The current debate on the establishment of centres of reference for rare diseases is being fuelled by the need to reconcile these two issues. Other factors also come into play to a greater or lesser extent depending on the country: how to ensure good rare disease practices and how to approach very rare diseases when healthcare is decentralized to the local level? And what importance will be given to EU health policies when health policy has always been the exclusive domain of member states? One thing is certain, the search for a solution by Spain, France, Italy, Denmark and even the Directorate General for Health (DG Sanco) and its Rare Diseases Task Force, is being carried out not by the authorities alone but in conjunction with patient representatives, if only in an advisory capacity.

Denmark champions social and educational integration and has implemented many promising initiatives. Europe could learn from them. “A patient with a metabolic disease such as Spielmeyer-Vogt will find it difficult to travel, so a multidisciplinary team goes to meet the patient” the Eurordis board member, Torben Grønnebæk, explains. “This mobile unit is made up of a doctor, a psychologist, a social worker and a patient representative. Our experience has shown that a personalised approach to healthcare is vital in the case of these diseases, particularly when patient care relies on both a national centre of expertise and local structures. However it is not easy to put in place personalised healthcare schemes: a survey found that only 27 out of 900 people had a Personal Health Plan, even though 91% of those with a Plan expressed greatly increased confidence as a result.

The Spanish have tackled this issue with a paediatric study showing that special attention needs to be given to children, particularly in hospital. A more personal, human approach must be taken with young patients and their families, requiring more time per patient as well as a coordinated response and information-sharing among medical, healthcare and social services personnel. The need for a more human-centred approach appeared obvious, especially since healthcare professionals had themselves been calling for increased human and material resources, for training in communicating a diagnosis and giving support during the development of a disease, and for more therapeutic research and development. Nevertheless, as Denmark illustrates, the importance given to adults should not be minimised, especially as adult diseases often require a great deal of care.

France launched a nationwide plan at the end of 2004 to establish 34 centres of reference, increasing to about one hundred by 2008. “The idea is to identify centres of scientific expertise which have direct contact with patients, whether they specialise in a specific disease such as Marfan syndrome or a broader field such as anomalies in embryonic development, as this is the best way of encouraging exchange of clinical and research knowledge, key for therapeutic development” explains Alexandra Fourcade, who runs this Ministry of Health project. “Heading this network of care means responsibility for distributing information and disseminating good practice and standardised therapeutic protocols to specialist centres with diagnostic and treatment capabilities.” And what is Europe's place in all this? “The teams identified belong to European networks. It would be useful to map centres and needs, it's true. In the meantime, like everything else, we are learning as we go along.”

For more information:
Read the report on centres of reference on rare diseases from the Rare Diseases Task Force
Read Eurordiscare survey

The article "European Centres of Reference" was previously published in the February 2006 issue of our newsletter. The background article "Diagnosis and Care: how can centres of reference best serve rare disease patients in Europe?" first appeared in the July 2005 issue.

Authors: Jerome Parisse-Brassens, Anne-Laure Murier
Photos : baby & doctor © Jim Gathany / Centers for disease control and prevention ; researcher
© Pan American Health Organization; © Eurordis