After European settlement

Orphan diseases definition European

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 It superseded the Supra-Regional Services Advisory Group.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.

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Popular Q&A

What is medical definition of orphan disease?

Any disorder affecting less than 200,000 people in the US (less than one per 1,000 people)—regarded by the pharmaceutical industry as too rare for developing commercially viable products

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