October 21, 2014
In January 2012, EU Commission members and Member States began defining criteria to develop European Reference Networks (ERNs) for rare diseases (RDs), in response to Article 12 of European Directive 2011/24/EU on patients’ rights to cross-border healthcare. In an article published earlier this year in Nephrology Dialysis Transplantation, and as a reminder of the purpose of ERNs, Parker highlights the EUCERD’s recommendations on setting up RD ERNs, aimed at providing patients with comprehensive healthcare through centers of expertise.
RD ERNs must build on and coordinate mature networks of experts and patient registries in order to share medical resources and existing data. Parker highlights the importance of dialogue between experts (tele-expertise) in different locations and from different professional areas to avoid duplicating patient diagnoses and to improve patient management. Since funding reference networks for each of the 7,000 or so RDs is unsustainable, RD ERNs will cover disease clusters, requiring multidisciplinary expertise.
Collecting data into registries is essential to building RD ERNs. Orphanet lists over 600 European RD registries. While a number of regional or national registries contribute to European and international databases, Parker believes that many still operate alone. As mentioned in the previous article, registries, biobanks and RD databases must be harmonized and coordinated if datasets are to be exploited across different countries and rare diseases. IRDiRC and EUCERD have developed guidelines and tools to share resources and optimize use of data. Ongoing efforts to share resources and streamline data will be necessary to accomplish the RD ERNs objectives.