Realising European Reference Networks for rare diseases: a preparatory workshop for the rare disease field
The Brains for Brain Foundation (B4B), the organisation leading the Inherited NeuroMetabolic Diseases Information Network (InNerMeD-I-Network) project, participated in the workshop “Realising European Reference Networks for Rare Diseases: a preparatory workshop for the rare disease field”. The workshop, organised by EUCERD Joint Action and the European Commission, was held on 1-2 July, 2015 in Bruxelles.
The workshop aimed to support the rare diseases (RD) field in preparing for the first Call for the implementation of European Reference Networks (ERNs), which is anticipated to be launched in December 2015. The specific objective was to inform, assess and maximise the current state of ‘preparedness’ for RD ERNs.
ERNs are described in Article 12 of Directive 2011/24/EU (Directive on the application of patients’ rights in cross-border healthcare). The Directive acknowledges the unique potential of ERNs for the RD field by asking the European Commission to “support the development of European Reference Networks between healthcare providers and Centres of Expertise in Member States, in particular in the area of rare diseases” (Art.12). In addition, the Directive dedicates a separate Article to RD (Art.13).
The EUCERD Joint Action (EJA) is a 3-year-initiative coordinated by Prof. Kate Bushby and dedicated to supporting the Commission Expert Group on Rare Diseases in formulating and implementing policies relating to RD. Since 2012, the EJA has organised workshops and prepared Recommendations and policy documents to support the RD field in maximising the opportunity afforded by ERNs. In particular, an EJA workshop in October 2014 was focused on engaging Competent National Authorities and Member State representatives of the Expert Group on Rare Diseases.
Bringing together individuals with experience of coordinating networks dedicated to specific diseases or disease areas, requiring highly specialised expertise to deliver optimum clinical care to patients across Europe, the workshop ensured that clinical/academic representatives of the various disease groups have an opportunity to:
- Receive an update on the state of the art for RD ERNs, through presentations and insights from a range of experts, including the European Commission, the Tender contractors (elaborating the Manual and Assessment toolkit for ERNs, and also defining services for ERNs), and RD experts engaged with the ERN topic over the last four years.
- Express the needs and expectations of their particular disease community relevant to RD ERNs.
An interactive and dynamic discussion on crucial issues took place addressing focal questions such as:
- What is the current state of preparedness for RD ERNs, amongst the clinical and research communities of Europe?
- What will be the added-value of RD ERNs – what benefit will they bring for the stakeholders involved?
- What are the frequently asked questions surrounding ERNs and how might these be addressed for the RD field?
- How will the clinical communities integrate with other domains (e.g. specialised procedures, genetic laboratories, etc.)
- Given that the EC Expert Group on RD is recommending a model for grouping RD in the future ERNs, how do we decide what group certain diseases fall into? And how do we ensure cross-talk across all ERNs?
- How might ERNs interact with existing and future RD tools and resources, including registries, JRC European Platform on RD registration, RD Connect etc.?
- What should be the services of an ERN? What good practices exist in the current networks/disease fields?
- Are there robust telemedicine systems in use for sharing RD data, images, scans etc.?
- What are the next steps?
During the workshop the state of the art of networking practices across the various RD or low prevalence and complex clinical ‘areas’ were shared and explored, with an emphasis on ensuring the best possible applications from the RD field results from the December 2015 Call for ERNs.
The second Official ERN Conference and associated workshops will take place in Lisbon this October (8-9th).