Bundling of knowledge about rare diseases in Centers of Expertise

As patient with a rare condition it is difficult to find the right information and medical centers where you can go for the right treatment. There is much fragmentation of knowledge and care. In order to bundle, there are Centers of Expertise established in the various European countries. These centers will be connected to each other at European level to create European Reference Networks.

At the National Conference on Rare Diseases (March 10, 2016) practitioners and representatives of patient associations discussed the state of affairs. The day was organized by the VSOP, an association of patient organizations for rare and genetic disorders, and the Dutch Federation of University medical centers (NFU). Both organizations played an important role in the creation and review of the Centers of Expertise.

Plan Rare Diseases

On October 10, 2013 in the Netherlands the national plan for rare diseases was launched. This plan contains proposals for activities necessary to improve the situation of people with a rare disease. In the Netherlands there are about 1 million people with a rare condition, which is about 6 to 7% of the population.

More attention needs to be paid to rare disorders in the training of healthcare professionals. There needs to be more scientific research, management, and availability of knowledge on rare diseases. There are recommendations for the direction and coordination of the implementation of the plan.

Centers of Expertise

A main task for the implementation of the NPZZ is the development of a network of Centers of Expertise. These centers bring together knowledge and expertise in the field of rare diseases, develop protocols and guidelines, coordinate research and ensure adequate reference of patients within and outside the Netherlands.

The centers must comply with the standards set by the European Union for such centers to be compatible with the European network for rare diseases (European Reference Networks). Patient organisations also have an important role in the evaluation of the centers.

There are now more than 300 Centers of Expertise in Netherlands recognized (information).

European Reference Networks

European level pooling of knowledge on rare diseases is very important as it offers data collection on larger numbers of patients. That is essential for research and improvement of care. Therefore, so-called European Reference Networks (ERN) will be established. The centers of excellence will form the nodes of the network.

They need specialized care providers in various EU member states to bring together knowledge and experience on rare or complex low-volume exchange treatments aimed at improving quality of care and increasing access to care (e.g., to recognize symptoms faster). Also, member states with too few patients with a specific disease benefit by being able to prescribe specialized treatment.

Starting on March 16, 2016, recognized European centers of expertise can register for participation in the creation of European reference networks for rare disorders (ERN's).