RD Action: “State of the art” Report 2018
The ‘State of the Art of Rare Disease activities in Europe’ is a well-established Resource providing valuable, detailed information for all stakeholders in the field of rare diseases (RD) and orphan medicinal products. Since 2012, the reports have been funded through two successive European ‘Joint Actions’ for Rare Diseases. The second of these, RD-ACTION, has just published the 2018 Overview Report, which provides a high-level summary of rare disease activities in Europe against the backdrop of various policy frameworks and developments. This Overview Report is one of three key components of the ‘State of the Art’ Resource, alongside the country-specific data collection activities and the (forthcoming) topic summaries.
The latest Overview Report aims to highlight key policy frameworks, legislation/’soft’ law, Recommendations and projects of particular relevance to the European rare disease field from the vantage point of mid-2018. It was compiled using data from various sources, including extractions from the Orphanet database and information provided directly by national representatives.
The Overview report begins with a ‘Political framework’ section, which addresses (amongst others) the following topics: Political framework at European Level; Key policy documents; Work programmes at European level; Political framework at Member State level; Political framework in other world regions (this section is essentially a summary of global RD policy frameworks and national achievements outside of Europe, created by synthesising news and updates featured in OrphaNews). Next, there is a section dedicated to ‘Expert Services in Europe’, encompassing chapters on Centres of Expertise in Member States; Expert Clinical laboratories; and European Reference Networks (the new ERN section summarises the ERN ‘status quo’ in early 2018 whilst highlighting Joint Action support across the last six years). This latest version of the Overview Report includes an extended section summarising key (disease-agnostic) initiatives of relevance to RD research and RD registries; for instance, readers can find the latest plans for the European Platform for RD Registration, and gain insights to the goals and structure of the recently-approved European Joint Programme Co-Fund for RD. Finally, the Report summarises the status quo regarding orphan medicinal products in Europe, and highlights the key achievements of Orphanet, EURORDIS and other patient organisations/patient-initiated ventures for rare diseases in Europe.
The 2018 Overview Report illustrates that, in many ways, this is a very positive time for Europe’s rare disease community. For instance, it emphasises that:
- 25 EU Member States have now adopted a national plan or strategy for rare diseases, compared to only 4 in 2008;
- 2016 saw the approval of European Reference Networks (ERNs) for rare diseases, and 24 ERNs are now operational;
- Collaboration between the “healthcare” and “research” domains is increasing, and will continue to grow (bolstered, it is anticipated, by the European Joint Programme Co-Fund for Rare Disease research);
- Patient organisations such as EURORDIS continue to grow and play leading roles in initiatives such as Joint Actions, Tender and Projects thus driving forwards progress;
- Orphanet continues to be supported by the European Commission on its the path towards sustainability.
However, the Report also highlights a number of concerns: after 3 years of the EUCERD (European Union Committee of Experts in Rare Diseases) and 3 years of the Commission Expert Group on Rare Diseases (CEGRD), there is no replacement body to fulfil this role. Although ERNs play a pivotal role, they cannot reasonably be expected to impact on all aspects of European policies for rare diseases. A further concern is that there are no plans for any future joint actions in the field of rare diseases policy (although Joint Actions in other areas - such as health inequalities and eHealth - have recently commenced operations), making stakeholder input to strategic planning somewhat difficult.
After the RD-ACTION funding ceased in summer 2018, the country data collection activities of the ‘State of the Art Resource’ will be sustained –and indeed reinvigorated- by the team at Newcastle University, to allow a prompt updating of the webpages and country-specific reports (which describe each Member State’s strategic activities to support people living with a rare disease). The next formal data review will take place in October, and will enable the creation of up-to-date topic summaries comparing the status quo of important activities and issues across European countries (for instance, the situation regarding national plans/strategies for RD; newborn screening; RD registration; etc.)
