Resource on the State of the Art of Rare Disease Activities in Europe
The field of Rare Diseases (RD) in Europe is entering an exciting but also potentially challenging era. After over a decade of advocacy and dedicated policy support, European Reference Networks have become a reality. 2018 will hopefully see the approval and launch of the much anticipated 5 year European Joint Programme co-fund specifically for translational RD research. 24 EU MS have, at some time, adopted a national plan or strategy for rare diseases, as requested under the Council Recommendation of 2009. However, the reality is that some of the vital ‘machinery’ which contributed to some of these successes no longer exists; for instance, for the first time in a decade, there is no longer a European-level expert body (in the vein of the Rare Diseases Task Force, the EU Committee of Experts on Rare Diseases (EUCERD), or Commission Expert Group on Rare Diseases) to ensure multi-stakeholder debate and agree forward-looking actions to address the broad range of topics under the classical ‘rare disease’ spectrum. For the first time in over 6 years, there will be no Joint Action for Rare Diseases even if several RD-related call will be launched in the 2018 Health program. In this climate, tools such as the ‘Resource on the State of the Art of Rare Disease Activities in Europe’ are perhaps more important than ever, in view the core mission to gather information from across all EU Member States (and beyond) and the subsequent potential to monitor the trajectory of trends and challenges.
Since 2011, the ‘Report on the State of the Art of Rare Disease activities in Europe’ has been a valuable tool to provide information on the RD status quo across Europe (in particular). Initially funded under the EUCERD Joint Action, the INSERM/Orphanet team in Paris produced a 5-volume report annually between 2012 and 2015. This resulted in a substantial document, downloaded 15,000 times per annum. Under RD-ACTION, production of the State of the Art moved to Newcastle University, and now consists of several ‘components’:
- The Overview Report
- Country-Level Information
- Topic summaries/analyse
- The Overview Report
The 2017 edition of the Overview report is available to download from the home-page. This aims to provide a broad outline of the history and status quo of RD activities across Europe, with an emphasis on topics such as the RD legislative and policy framework, European Commission investment, achievements of the most relevant funded initiatives (e.g. Joint Actions), and research activity. Sections explore the status quo across Europe regarding topics such as the following: the existence and nature of National Plans/National Strategies (NP/NS) for Rare Diseases; The status quo regarding RD registries; National capacity for genetic testing of rare diseases, etc.
The report is compiled using data from various sources, including extractions from the Orphanet database, information provided directly by national representatives, and independent research. The Overview report is also home to a summary of global RD policy frameworks and national achievements outside of Europe (these sections on non-EU countries are based upon the highlights and updates featured in this Newsletter). The next Overview Report will be launched this May, and will update all existing sections whilst expanding its focus to include a greater emphasis on developments concerning the EJP, the topic of OMP availability and accessibility, the European drive towards a shared HTA process, the ERNs, and more.
- Country-Level Information
It is essential that information is openly accessible regarding the status quo of RD activities at the national level – this helps to demonstrate the continued commitment of European Countries to supporting people living with rare diseases, and also enables a pan-European assessment of trends and developments around key topics. Under RD-ACTION, the goal was to enable a more multistakeholder contribution to each national report, and to this end, a ‘Data Contributing Committee’ (DCC) was created for each EU MS. These DCCs consist of representatives of the Competent National Authority (traditionally the official national representatives participating in the EUCERD and subsequent Commission Expert Group on Rare Diseases), a National Alliance of RD patient organisations, and the national Orphanet team. Each member of the DCC is encouraged to participate in the collaborative completion of an online survey, which poses specific questions on many important aspects (19 broad areas, to be exact) of a country’s RD activities. These areas include the status quo and level of implementation of a NP/NS for RD; coding and registries; organisation of healthcare (e.g. Centres of Expertise and ERNs) and social integration of RD; policies relating to Genetic testing, Newborn Screening, and Clinical Practice Guidelines; Training, education, and information resources; research, Orphan Medicinal Products’ availability; and more. Importantly, the questions were carefully constructed to yield comparable information to explore practices between countries, and incorporated the Indicators agreed at the Expert Group level via the EUCERD Recommendations on Core Indicators for Rare Disease National Plans/Strategies. Data has now been received from almost all EU Member States (MS). Each country has its own page, on which visitors can find a detailed report and a short summary of the country’s activities pertaining to RD. The pages also host older archived reports and links to the national Orphanet site/National Plan/Strategy documents, where available. Countries are now being invited to review and update their responses to the master survey, and will be encouraged henceforth to convey updates whenever there are important national developments.
3.Topic Summaries/Analyses
With the second formal collection of data the focus in early 2018 is to generate analyses on the responses of all MS, to present the aggregate responses to key questions related to the EUCERD Recommendations on Core Indicators and shape these into topic-specific summaries. Meanwhile, brief summaries of key topics such as the Status Quo of NP/NS for Rare Diseases, RD registration, and Newborn Screening, will be published. For instance, regarding the ‘Status Quo of NP/NS for RD’:
- 24 EU MS had at some point adopted a NP/NS for RD:
- of these, 15 NP/NS were time-bound and still in date as of the end of 2016;
- 3 were time-bound and had expired by the end of 2016;
- 6 are ongoing i.e. appear not to be time-bound;
- and 4 MS had not yet adopted any NP/NS
- Of the 21 still ‘active’ at the end of 2016:
- 15 MS reported no dedicated funding
- 13 reported that a ‘dedicated advisory body/expert advisory group’ of some sort was in place to oversee the implementation or evaluation of the Plan, and that this body was Multistakeholder & fully functioning (meeting regularly)
- 5 Reported that such an advisory body existed but was partially functioning
- 3 Reported ‘No dedicated advisory/implementation body’ was in place to oversee the NP/NS implementation or evaluation.
These analyses will be published before the end of the RD-ACTION initiative (May 2018).
