RD-Action reviews two years of progress and celebrates 20 years of Orphanet
Last 10-11 of October, the annual meeting of RD-Action took place in Paris. RD-Action, a European Joint Action brings together 40 countries to support data and policies for rare diseases. The key elements of the Joint Action are to support the development and sustainability of the Orphanet database, and conduct political actions at the European level, in particular to a codification of rare diseases in health information systems. RD-Action is also 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. The three major topics of the annual meeting were the establishment of the European Reference Networks (ERN) and their interaction with Orphanet, and RD-Action; Orphanet’s sustainability and the evolution of the database; and Member States activity regarding rare diseases (RD)
Ana Rath, RD-Action coordinator and Director of Orphanet), and Stefan Schreck, Head of Health Information Unit, European Commission (DG Health Consumers) opened the annual meeting, notably highlighting the changing rare disease landscape following the designation of 24 European Reference Networks for Rare Diseases (ERNs), before the different partners of the Joint Action presented the latest advances. Victoria Hedley (Newcastle University, UK), leading the policy work package, focused on the support provided by the Joint Action to the ERNs and the crucial need to use a common terminology for all networks to share scientific knowledge. In terms of codification, a number of guidelines to facilitate the implementation of Orpha codes and the Orphanet nomenclature in health information systems have been developed and were presented.
Concerning the Orphanet database, the Orphanet Knowledge Management System, a new interactive tool developed by the Garvan Institute in Australia to render the curation of Orphanet’s scientific data more efficient and transparent was presented. This tool will be used, in particular by the ERNs, to harness the expertise in these networks to improve the data in the Orphanet database. Orphanet is in the process of establishing close partnerships with the ERNs in a global way to ensure that expertise is captured and optimised via Orphanet. To improve the visualisation of the offer provided by ERNs, a tab was added to the Orphanet website which displays the geographical situation of the ERNs. Valentina Bottarelli (EURORDIS) underlined the key role played by patients in the construction and implementation of the 24 ERNs via the establishment, with the support of EURORDIS of specific European Patient Advocacy Groups.
Orphanet’s sustainability was again a major issue discussed during the meeting: Patrice Dosquet (Ministry of Health, General Directorate of Health), on behalf of the evaluation work package highlighted the necessity of sustained financial support at an institutional level for Orphanet, an indispensable resource for rare diseases. The first part of the annual meeting was closed by the announcement of Japan’s entry in the Orphanet consortium as the 41st country. It was also announced that the Orphanet nomenclature has been translated into Polish and that to improve transparency Orphanet quality management procedures have been made available on the site. The new look Orphanet website and OrphaNews newsletter were also presented and well received. The afternoon‘s discussions focused on the support provided by the Joint Action to the implementation of Orpha codes and the Orphanet nomenclature at a European level (Magdalena Marx, German Institute of Medical Documentation and Information) and health systems sustainability for rare diseases (Domenica Taruscio, Istituto Superior di Sanità). Simona Martin (European Commission Research Centre) presented the advances concerning the European Rare Diseases Registry Platform and Victoria Hedley presented an update on the State of the Art of Rare Diseases Activities in Europe online resource.
Yann Le Cam (EURORDIS) concluded the day by again highlighting and reflecting on the essential role of RD-Action in making the link between the actions of the European Commission (e.g. establishment of ERNs), and the Member States. RD-Action partners are questioning how to essential role played by the Joint Action can be carried on, as there is no visibility concerning its continuation, and the Commission Expert Group on Rare Diseases has not been renewed since its last meeting over a year ago.
The meeting was closed by a dinner celebrating Orphanet’s 20 year anniversary. For the occasion, Stefan Schreck has highlighted Orphanet’s progress and accomplishments at a European level, and Yves Lévy (Chairman and Chief Executive Officer of Inserm) who reasserted Inserm’s total support to Oprhanet. Ségolène Aymé, founder of Orphanet and the evening’s guest of honour, was presented by Ana Rath, on behalf of Orphanet teams both past and present, a symbol of recognition and gratitude for her action and involvement as founder of Orphanet.
