RD Action Final Meeting: Legacies and future challenges
Picture credit: Marc Hanauer
The final meeting of the 3 year Joint Action on Rare Diseases, RD-Action took place in Paris on 28 June 2018. Funded by the EU's 3rd Health Programme, this Joint Action brought together 40 countries to support the development and sustainability of the Orphanet database, and conduct political actions at the European level, in particular regarding the codification of rare diseases in health information systems. RD-Action also had the role of ensuring the communication between the Member States and the European Commission by coordinating priority actions, such as the elaboration and implementation of European Reference Networks (ERNs). This Joint Action was unique in its kind, as it for the first time integrated data and policy support in the field of rare diseases. The focus of the final meeting of this Joint Action was to present RD-Action's achievements, and its legacy for the implementation of rare disease policy at the national and European levels. The final session took the form of a round table, focused on shaping the future of rare disease policies.
The meeting was opened by Antoni Montserrat (European Commission, DG Santé) and Donata Meroni (CHAFEA), who in particular thanked the participants of the Joint Action for their work over the past three years, a particularly dynamic period for the field, notably marked by the creation of European Reference Networks for rare diseases at the start of 2017 in which the policy workpackage of RD-Action played a key role. Ana Rath, the coordinator of the Joint Action (Director of Orphanet, INSERM) followed these opening words with a welcome that included special words of thanks in particular for the work package leaders who played a vital role in bridging diverse aspects making up this project: Yann Le Cam (EURORDIS), Kate Bushby (Newcastle), Victoria Hadley, Stefanie Weber (DIMDI), Till Voigtlander (ERN Board of Member States), Patrice Dosquet (French Ministry of Health) and Domenica Taruscio (ISS). She highlighted the very special synergies that were created during these three past years that have enabled great progress to be made, leaving a legacy for future actions.
RD-Action's legacy at national level...
Indeed, the first session was dedicated to the legacy left by the Joint Action for the implementation of RD policies at national level. Workpackage 2 leader Domenica Taruscio presented the work carried out on resilient and sustainable health systems for RD, noting that work will continue in the scope of TO-REACH a coordination and support action to prepare a joint European research programme aimed at producing research evidence supporting health care services and systems to become more resilient, effective, equitable, accessible, sustainable and comprehensive (in Europe, and abroad).
Ariane Weinman from EURORDIS then presented an overview of the 19 new format EUROPLAN national conferences co-organised by National Alliances for rare diseases held during the Joint Action in order to address pressing policy priorities and needs at national level concerning rare diseases. An analysis of the outcomes of these meetings showed that 20 EU Member States had an ongoing national plan/strategy for rare diseases, with 5 additional Member States conducting discussions for a second plan/strategy on rare diseases. Topics of particular interest for these conferences included access to diagnosis, to medical care, registries and codification of rare diseases, and recognition of RD patients' specificities for social care. It was highlighted that the implementation of national plans/strategies for RD need to be fostered in the future, in order to ensure that the next wave of initiatives integrate EU policies for RD, in order to improve access to a timely diagnosis, adequate healthcare, social care and to boost innovation to address patients' unmet needs.
Next came a presentation by Victoria Hedley from the University of Newcastle on the State of the Art of Rare Diseases Activities in Europe report, which will have been published twice during the Joint Action. This report provides an overview of intiatives and policies in the field of rare diseases at national, European and international levels, with additional country-specific reports and webpages providing a full description of the status quo across Europe. The final wave of validation of the 2018 edition of the report is underway and following this the data will be analysed in order to publish topic summaries that will draw on countries' experiences and initiatives in various domains.
The first session concluded with a presentation by Stefanie Weber (DIMDI) on the outcomes of workpackage 5 which aimed to to develop a toolset to assist Member States (MS) in implementing ORPHA codes in their health systems, to define common objectives for coding RD and to provide guidance and common standards in order to create consistency across Member States. At the end of the Joint Action, a set of guidelines for coding RD will have been issued along with the specification and implementation manual of the Master file, specifications for an adapted coding tool for RD, and recommendations for routine maintenance.
...and at European level
The second session turned its focus from the national to the European level with an overview of the support provided by RD-Action to the ERNs from their conceptualisation, to their constitution (matchmaking activities), to their implementation, focusing on aspects such as the generation of clinical practice guidelines and indicators and outcomes. Raquel Castro (EURORDIS) then presented the topic of integrated care in the ERN era, demonstrating the cross-talk that has taken place with the InnovCare project in order to introduce this topic in the scope of the activities of the ERNs.
Ana Rath (Orphanet, INSERM) updated the assembly on the progress made in then Joint Action to further develop and make sustainable Orphanet, the rare disease database. Over the past three years, Orphanet has started its major overhaul of the IT infrastructure of the database from a relational to a graph database, has started its move to a more distributed organisational model, and has increased the size of its Consortium (with the addition of Japan) and the number of languages provided (the Orphanet site is now available in Polish, and the nomenclature in Czech). Orphanet has also improved the traceability and transparency of curation procedures, has made available tutorials to explain resources to users, and has updated and expanded scientific annotations and its expert resources catalogue (including a map of ERNs). Concrete steps have been taken towards the sustainability of Orphanet over the past three years: the database will for the next three years be co-financed via an EU Health Programme Direct Grant and discussions are underway at INSERM level and at the EC Steering Group on Prevention and Promotion. The legacy of Orphanet following RD-Action for the RD field is three-fold: delivery of a standard common language for health and research (the Orphanet nomenclature), the provision of a comprehensive, reliable database for decision making (for both Member States and ERNs), and a site providing information for professionals and patients alike.
Finally, Victoria Hedley reported on the work carried out as concerns data sharing, research and innovation in relation to the ERNs, citing the Interoperability Task Force, set up in the Joint Action to explore priorities in the field of interoperable data-sharing between eHealth and RD communities to be addressed in the future in the scope of CEF (Connecting Europe Facility).
Building on the legacy, looking to the future
The day ended with a round table discussion on the how RD-Action's legacy can be built upon to shape the future of RD policies. A number of main questions were addressed, including what is still needed to best support ERNs in their future missions, for Orphanet to be consolidated as the European knowledge base for RD, and for the continuation RD policies at national level. To contextualise the discussion, it was highlighted that there is no longer an Expert Group at the European Commission solely decdicated to RD (the subject of RD will be treated ad hoc by the Steering Group on Health on Prevention and Promotion) and that the RD-Action partners have addressed an open letter to the European Commission on the future of EU Rare Disease Policy, calling for the European Commission to reaffirm its leadership in this area of high European added value and for the creation of an informal RD Think Tank and maintenance of a dedicated policy offer for RD at the Commission. During the roundtable, alternative sources of financing for rare disease projects were cited in the absence of plans for a 4th EU Health Programme, in particular H2020, Horizon Europe and the European Social Fund +. Apart from the position of rare diseases at a political and financial level, it was highlighted that the synergy between European Reference Networks and Orphanet will be key to knowledge generation for RD: these interactions will be formalised and coordination mechanisms put into place in the scope of the Orphanet Direct Grant.
The meeting concluded on a bittersweet, yet positive note: the past three years have seen the emergeance of a real multi-stakeholder consortium spanning the whole spectrum of fields, from data to policy, implicated in meeting the challenges of rare diseases, demonstrating the high added value of a transverse approach. Many key questions, notably concerning the sustainability of resources and policies, remain for the moment unanswered, and the RD community will continue to push at European and national level to see them addressed.
