Reference networks for rare diseases

European reference networks for rare diseases are virtual expert networks. Their purpose is to serve as instruments for doctors in diagnosing, treating and researching rare diseases. Contact with reference networks is made through the doctor treating the patient.

In Finland, a rare disease refers to a disease that up to five persons out of 10,000 residents have. European reference networks include reference centres for rare diseases, which operate all around Europe. The centralisation of experts and information may prove very useful when a patient and their doctor need assistance to make a diagnosis or determine a course of treatment, for example. Supported by reference networks, doctors are able to advise and support their patients regarding their rare disease more efficiently.

The European reference network comprises a total of 24 networks specialising on different diseases. They include more than 900 specialised healthcare units from all over Europe. In Finland, all university hospitals participate in the ERN. After the second membership application round, Finnish hospital districts have memberships in all disease groups.

How do reference networks operate?

A doctor treating a patient in Finland may, if they wish, make use of the European reference network when making a diagnosis or determining a course of treatment, for example. Patients themselves will not be in contact with the reference networks; instead, their doctor is the contact person. Finnish reference centres for rare diseases forward consultation requests to European reference networks.

A written permission from the patient is required for making contact and using the patient’s data. Contact with European reference networks is maintained by means of a secure consultation platform. Through the platform, doctors may request advice from other members in the network and provide online consultation services, if necessary. Statements provided by the reference network are submitted to the attending doctor. Advice given by the network is not binding to the attending doctor, who makes treatment-related decisions together with the patient.

Thanks to virtual consultations, the patient may not necessarily have to travel abroad. In some cases, however, there are good reasons to travel if certain surgical care, for example, is not available in Finland. In that case, the patient may seek a prior authorisation from Kela. Hospitals can arrange treatment also by outsourcing services between hospitals.

Read about how European reference networks work in practice: Onni’s story.

Onni is a boy who suffers from severe epileptic seizures. Onni is subjected to tests and examinations which reveal that the symptoms are caused by a rare brain tumour. Onni’s doctor asks for advice from a European reference network specialising on severe types of epilepsy.

Onni’s case is processed in the EU reference network. Experts all around Europe make a joint assessment concerning the best treatment method for Onni’s epilepsy. A specific surgery is selected as the treatment method, and the highest-level technical expertise is available in Marseilles, France. Therefore, Onni travels to France with his parents for surgery. After the surgery, Onni has seizures less frequently and is well on his way to recovery.

Source: European Commission – Audiovisual services