Centers of expertise for rare diseases

Rare diseases

In Europe, a disease is classified as rare if it affects fewer than 5 in 10,000 (1 in 2,000) members of the general population in the European Union. In total, there are more than 7,000 known rare diseases. Between 6% and 8% of the population has a rare disease. This equates to approximately one million people in the Netherlands and between 27 and 36 million people across Europe.

National plan

The National Plan Rare Diseases (NPZZ in Dutch) was launched in the Netherlands on 10 October 2013. One of the main tasks in implementing the plan is the recognition of Centers of Expertise for Rare Diseases. The centers must meet the requirements set by the European Union for compatibility with European networks for rare diseases. The Dutch Federation of University Medical Centers (NFU) has been commissioned by the Ministry of Health, Welfare, and Sport to develop and implement a designation procedure for nationally recognized centers of expertise in the Netherlands.

Procedure for centers of expertise

The designation procedure was developed in close collaboration with Orphanet Nederland and VSOP Dutch genetic alliance. This ensured the connection with the medical-scientific perspective, while also providing for European embedding and emphasis on the patient’s perspective. The NFU’s goal is to provide a thorough overview of recognized centers of expertise in the field of rare diseases in the Netherlands.

Recognition in accordance with European standards

Prospective centers of expertise are assessed from two perspectives: by experts in the field and by relevant patient organizations. The prospective centers of expertise are assessed on the basis of 17 criteria defined at European level, divided among seven primary themes. Both assessments are then submitted as recommendations to an independent committee, after which a decision is made on whether a center of expertise will be recognized by the Ministry of Health, Welfare, and Sport. The prospective centers are informed of the assessment committee’s final decision, and this is also submitted as a recommendation to the Minister of Health, Welfare, and Sport.

Centers of expertise

The Ministry of Health, Welfare, and Sport wants patients with rare diseases to know which centers of expertise in Europe they can turn to for diagnosis, multi-specialist and multidisciplinary care, paramedical support, and treatment. This makes it clear to both patients and professionals where specific expertise is available. A list of the centers is also a major step towards better, integrated care for patients with rare diseases.
See the list of centers: Recognized Centers of Expertise for Rare Diseases at Erasmus MC

Additional information

The website of the European Reference Networks  
The website of the national point of contact for cross-border healthcare, CAK  
Also watch the video on the European Reference Networks (only available in English).