Advertisement

A unique e-health and telemedicine implementation: European Reference Networks for rare diseases

  • Ibrahim GulhanEmail author
Overview
  • 32 Downloads

Abstract

Aim

According to the European Union (EU), a disease is considered rare when it affects no more than one person in 2000. Rare diseases (RDs) are serious, chronic, and often life-threatening conditions. There are major problems with the diagnosis and treatment of RDs, such as lack of knowledge, lack of or delayed diagnosis, lack of treatment, and lack of or limited access to medical care. The aim of this article is to evaluate the European Reference Networks (ERNs) for rare diseases.

Subjects and methods

Literature and document search.

Results

After undertaking many projects with regard to preparation of the national registries, the EU has established European Reference Networks (ERNs) to facilitate cooperation among national registries and to support more effectively the treatment of RDs throughout Europe. The first 24 ERNs were launched in 2017, involving more than 900 specialized healthcare units from over 300 hospitals in 26 Member States and healthcare providers across Europe. ERNs are virtual networks that bring all existing knowledge, experience, and resources together, using three e-health and telemedicine tools: the ERN Collaborative Platform, the ERN Clinical Patient Management System, and the ERN public website. With these tools, ERNs bring the best specialists together from all European countries and make the best treatment accessible for patients.

Conclusion

ERNs can be considered a unique example of e-health and telemedicine implementation at a high level.

Keywords

Rare diseases National registries European Reference Networks e-health European Union 

Notes

Compliance with ethical standards

Conflict of interest

The authors declare that they have no conflict of interest.

Ethical statement

This work does not require ethical approval, as it does not involve human participants or personal data. This is a review of the published literature.

References

  1. Commission Implementing Decision of 10 March 2014 setting out criteria for establishing and evaluating European Reference Networks and their Members and for facilitating the exchange of information and expertise on establishing and evaluating such Networks (Text with EEA relevance) (2014/287/EU). Official Journal of the European Union. Accessed 10 Sep 2018Google Scholar
  2. Conference report of the 3rd conference on European Reference Networks, Vilnius, Lithuania, 9–10 March, 2017. Accessed 10 Sep 2018Google Scholar
  3. de Vrueh, Baekelandt ERF, de Haan JMH (2013) Update on 2004 background paper written by S. van Weely, Ph.D. and Prof. H.G.M. Leufkens. Background paper 6.19 rare diseases. http://www.who.int/medicines/areas/priority_medicines/BP6_19Rare.pdf. Accessed 10 Sep 2018
  4. European Commission (2013) How Europe meets challenges. https://ec.europa.eu/research/health/pdf/rarediseases-how-europe-meeting-challenges_en.pdf. Accessed 10 Sep 2018
  5. Héon-Klin V (2017) European reference networks for rare diseases: what is the conceptual framework? Orphanet J Rare Dis 12:137.  https://doi.org/10.1186/s13023-017-0676-3 CrossRefPubMedPubMedCentralGoogle Scholar
  6. Regulation (EC) No 141/2000 of the European Parliament and of the council of 16 December 1999 on orphan medicinal products. https://publications.europa.eu/en/publication-detail/-/publication/d845e34f-2cd3-4217-9ab3-1ccfb1bb3be3/language-en. Accessed 10 Sep 2018
  7. Rodwell C, Aymé S (2015) Rare disease policies to improve care for patients in Europe. Biochim Biophys Acta 1852:2329–2335.  https://doi.org/10.1016/j.bbadis.2015.02.008 CrossRefPubMedGoogle Scholar
  8. Taruscio D, Vittozzi L, Choquet R, Heimdal K, Iskrov G, Kodra Y, Landais P, Posada M, Stefanov R, Steinmueller C, Swinnen E, Van Oyen H (2015) National registries of rare diseases in Europe: an overview of the current situation and experiences. Public Health Genom 18:20–25.  https://doi.org/10.1159/000365897 CrossRefGoogle Scholar
  9. World Health Organization (WHO) (2016) Global diffusion of eHealth: making universal health coverage achievable. Report of the third global survey on eHealth. WHO, Geneva. Licence: CC BY-NC-SA 3.0 IGO. Accessed 10 Sep 2018Google Scholar

Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  1. 1.Department of Gynecologic OncologyTepecik Training and Research HospitalIzmirTurkey

Personalised recommendations