The last 27th October, the European Commission published the last Health programme of the Horizon 2020 research strategy. The programme has the ambition to face the most important challenges on health, demographic change and wellbeing in Europe, including those that are of main importance for rare diseases: the rising and potentially unsustainable health and care costs, and health inequalities and access to health and care. This programme is placed under the sign of openness: open science, open innovation and open to the world, and societal challenge. A particular focus is put on openness and collaboration within Europe and with global actors, and on building strategies allowing to give Europe a leading worldwide role in innovation for better health. Of importance is the fact that the ambitions go towards the effective translation of research in healthcare, by integrating, for instance, personalised medicine approaches into health systems, exploring the potential of digital innovation in health research and care, and exploring the application of advanced technologies for health improvement and regulatory science in order to stimulate innovation in the healthcare domain. The new health programme ambitions steam on the most important global commitments as the UN 2030 Agenda for Sustainable Development Goals, as well as on transversal European actions such as theDigital Single Market, the cross-border healthcare directive and the Council Conclusions on Personalised Medicine and on Pharmaceutical products.
Importantly, an Open science approach is an explicit requirement for applicants, who will need to address data sharing specifically. International cooperation is strongly encouraged as is a collaboration with European research infrastructures and European reference networks when appropriate, reinforcing the willingness to achieve an integrative approach between research and care. This approach was strongly advocated by the rare diseases community at the conference on the Development and Access of Medicines for Rare diseases held by Maltese Presidency of the EU Council in Malta by EURORDIS.
Three main calls and several focus areas in these are included. We will underline two of importance for rare diseases.
Within the call « Better Health and care, economic growth and sustainable health systems », the Focus area Personalised medicine includes a specific call for rare diseases: The Rare Diseases European Joint Programme Co-fund. The specific aim of this call is to create an effective pipeline from bench to bedside, by consolidating and integrating together the successful achievements of previously funded projects, databases and infrastructures and by addressing the yet uncovered areas. This integrative effort will allow contributing to achieving the new IRDiRC goals more efficiently. The programme should be structured in four main components :
- Research and innovation programme to be funded through transnational calls for proposals resulting in financial support to third parties, based on the annual work plans of the EJP Cofund; these transnational calls will be based on the rules of previous ERA-NET co-fund programmes .
- Development of a virtual platform for rare diseases information, research data, data based on samples, tools and standards to support and accelerate rare diseases research; this should contribute to the Health Research and Innovation Cloud, one of the thematic clouds of theEuropean Open Science Cloud.
- Capacity building to improve the research and innovation potential of key stakeholders and enhance uptake of research results.
- Strategic coordination and management.
Inclusiveness and networking are encouraged. Integration of patient organisations and of European Reference Networks will ensure a perfect alignment with and direct impact on healthcare implementation. The programme will limit fragmentation and multiplication of efforts. With these aims, the European rare diseases community is already working together to respond to the RD-EJP call.
The second call we want to highlight is included in the Focus area Innovative health and care industry and its scope is « Next-generation sequencing for routine diagnosis ». It is a pre-commercial procurement type of funding, with the final aim to allowing the introduction of NGS in routine for diagnosis and overcome the organisational, economic, technical, social, ethical and clinical barriers. The connexion with outputs of the EJP on RD and with ERNs is strongly encouraged as far as rare diseases are concerned. It is expected that new NGS platforms and new accepted standards and quality assurance schemes are adopted for the routine implementation of NGS in diagnosis, and that new data generated by it will also benefit research. Again, bi-directional integration of research and healthcare is highlighted in this call.
In conclusion, the Health Research Programme 2018-2020 of the European Commission will contribute to the improvement of diagnosis and patients management with rare diseases by enhancing the synergy of all the stakeholders, capitalising on previous efforts, and putting the patient at the centre of a health-oriented research.
OrphaNews November 28, 2017