European Reference Networks aim to help patients, whose medical condition requires specific knowledge or resources, access diagnosis and treatment, as well as to ensure that the received treatment is of high quality, accessible, and cost-effective. The Networks are intended to cover the medical fields related to rare diseases and with a low number of experts. European Reference Networks would also act as information centres in terms of medical training and scientific research, as well as distributing and assessing information. In doing so, they would also help specialists of different professions of European Union (hereinafter “EU”) member states and their centres share their knowledge on the latest scientific treatment possibilities of rare diseases.

Pursuant to article 12 of the directive, the European Commission shall support the development of European Reference Networks in terms of healthcare providers and hubs of expertise (especially regarding the field of rare diseases) by approving the corresponding criteria and conditions (found here). In accordance with the directive of the European Union, the members of the European Reference Networks should meet the following criteria:

  • have knowledge and expertise to diagnose, monitor, and manage rare diseases, relying on evidence-based practice;
  • follow a multidisciplinary approach;
  • offer a high level of expertise and have the capacity to compile evidence- and practice-based treatment instructions and to implement outcome indicators and quality control;
  • contribute to research;

• organise teaching and training activities;

• collaborate closely with other centres and networks of expertise on the national and international level.

Recommendations of the European Union Committee of Experts (hereinafter “EUCERD”) regarding quality criteria can be found here.

In March 2014, all member states unanimously adopted the legal framework for creating and assessing European Reference Networks. Since then, the Commission has begun creating Networks, incl. creating the management boards of member states, which are responsible for approving proposals submitted to the Reference Network and member states wishing to join. The Commission collaborates with healthcare providers and national authorities to increase the awareness of the opportunities provided by European centres of reference and to build support for the activity of possible networks and members in the given field. The first call for joining the Reference Network was opened on 16 March 2016 and runs until 21 June 2016.

An info day about joining European centres of reference was held on 7 April 2016 to introduce opportunities for joining the network, its structure, and funding. Currently, there are 13 networks ready to be joined and 10 networks that are still undecided for.

Joining the network is voluntary for centres of expertise / healthcare providers of the Health Board (hereinafter “HPHB”) and requires meeting different criteria, as well as corresponding to assessment rules and evaluation. Necessary application forms and guidelines can be found here. Networks are formed by positively assessed centres of expertise / HPHBs that have gained a member status. A single network comprises a minimum of 10 members from 8 different EU member states.

Centres of expertise / HPHBs and networks are assessed separately. It is a 6-step assessment process that takes place at the same time as applying for funding. Member states are expected to financially support applying centres of expertise / HPHBs, the European Commission will support members in up to 60–80% range. Organisers hope that the first networks will be approved as early as in November – December of this year; these will be assessed once every 5 years. Centres of expertise / HPHBs who do not currently wish to join a network can do so in the next 5 years by completing the corresponding assessment procedures once the first networks have been approved. In the case of member states that do not have competent centres, which is a prerequisite for becoming a member, can still, in accordance with the established criteria, collaborate with networks that operate in diagnosing, treating, and researching rare diseases, as well as in organising further training thereof. The patient-centred objective is to promote profession-specific multidisciplinary collaboration to ensure the best access and quality of healthcare.

Additional information about European centres of reference can be found on the website of the European Commission. The activities of EU member states and other European countries in the field of rare diseases are introduced here.

In 2008, the Estonian government adopted the National Health Plan 2009–2020 (hereinafter “NHP”). The NHP 2009–2020 provides recommendations and guidelines on how to promote healthcare and assembles the tasks necessary to achieve this, incl. in terms of rare diseases. Diagnosing, treating, and researching rare diseases has mainly concentrated in the responsibilities of the University of Tartu, where the doctors are identically trained by using the resources of the Tartu University Hospital (hereinafter “TUH”). Estonia does not have a single outpatient treatment facility that specialises in rare diseases exclusively. There are two genetics centres, one in Tallinn and another one in Tartu, that diagnose rare diseases and whereto patients across Estonia are referred.

Estonia does not currently have a national registry for rare diseases and, as far as is known, there are currently no plans to create one. Estonia does however have a Health Information System where all necessary information is assembled (studies, diagnoses, medicine, etc.) and a database of the TUH Genetics Centre. Information about rare diseases can be found on Orphanet, which was created in 2004. In 2011, the Estonian Orphanet team created a national website for the portal. Orphanet is a publicly available portal that provides information about rare diseases and rarely used medicine. The objective of Orphanet is to contribute to promoting the diagnosis and treatment of rare diseases. The organisation’s website answers the following questions: What is a rare disease? How many rare diseases are there? What is the origin of rare diseases and what characterises them? Other questions regarding rare diseases are answered as well. The website also provides informative expert references to specialised hospitals, patient associations, and relevant Internet sites. The website of Orphanet can be found here.

Recent achievements of Estonia:

  • The Tartu University Hospital meets the EUCERD criteria.
  • On 12 February 2015, the Organisation of European Cancer Institutes (OECI) granted Tartu University Hospital the Accreditation certificate, which confirms that TUH complies with cancer care and research results and has been accepted as a clinical cancer centre.
  • The training centre of Tartu University Hospital organises rare disease trainings for doctors 2–3 times a year.
  • Estonian teams have participated/participate in FP7 projects related to rare diseases.
  • The rare diseases development plan has been compiled and can be found here. The rare diseases development plan with action plans for 2015–2017 can be found here