Edition of 11 December 2020

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Editorial

Rare 2030: Backcasting the future of European Reference Networks

Despite the current world health crisis, digital workshops have abounded over the past couple of months in the scope of Rare 2030, a two-year policy foresight EU Pilot Project, commissioned by the European Parliament and coordinated by EURORDIS, aimed at guiding reflection on rare disease policy in Europe through the next ten years and beyond, based on foresight exercises. The project will deliver recommendations in early 2021 towards the future scenario deemed most desirable through a broad consultation with over 200 stakeholders.

Kicking off the fourth step in the foresight process, a series of consultations and workshop sessions were organised in September and October 2020 to agree on the policies required to reach the desired future scenario. The Rare 2030 Foresight Study has decided to pay particular attention to the place of European Reference Networks (ERNs) in the future scenario, given their central importance to the rare disease community. The (staggered) workshop focused on four main themes of strategic interest to ERNs:

Governance and Strategic positioning of ERNs
Integrating ERNs to national systems and frameworks
Role of ERNs in virtual care delivery and cross-border healthcare
ERNs, research, and the data ecosystem of the future

The online workshops brought together 73 participants altogether, including ERN representatives, ERN Hospital Managers, ePAG advocates, EURORDIS, Board of Members States, key members of the European Commission, and partners of the Rare2030 project. Each workshop was organised around a number of proposed preliminary recommendations directed towards ERNs. Participants spent some of the session time reviewing and ranking these individually, and the rest of the time working in groups, to identify the recommendations the participants considered to be of greatest strategic importance to ERNs fulfilling their potential in 2030. The groups also brainstormed on the feasibility of each recommendation, with the reminder to think ambitiously. The participants also proposed steps which would be needed to implement some of these strategic recommendations.

The highly interactive workshop sessions were followed by a closing plenary session on 26 October 2020 to review the main conclusions, which was open to a wider audience. Prior to the plenary, the recommendations deemed most relevant were extracted - and amended where necessary- and were incorporated to a survey: 33 recommendations were identified in total. This survey asked respondents to consider all 33 and to rate them according to their strategic importance to the future of ERNs. The early results of the survey were presented in the plenary, and expert perspectives and reactions were sought. The survey attracted 205 complete responses, which are currently being analysed; however, the Rare 2030 team can here present the 5 recommendations rated most highly across the board:

(Of greatest strategic importance): ERNs need a long-term funding framework which should consider ALL possible sources of funding: such a framework needs to be defined urgently and should include a definition of all central functionalities and policies to support ERNs’ financial management and governance
The concept of a centre of expertise for rare diseases should be revisited at country level: countries should ensure they designate all such centres in a comprehensive and transparent way, and make the result of such a mapping and designation publicly available, demonstrating how ERN HCPs and ‘affiliated’ centres fit within wider national networks (where applicable). The EUCERD Quality Criteria for Centres of Expertise for Rare Diseases remain a robust resource here
Disease-specific registries (where positively evaluated by ERNs based on rigorous criteria OR created anew by ERNs in future) should be interoperable with the new ERN registries and any robust national RD registries: these should all be connected (sustainably) to ERDRI* to provide a fully functioning registration ecosystem
Renewing or updating national plans and strategies for rare diseases should remain a key priority for all countries - all such documents should stipulate the strategy to engage bidirectionally with ERNs, and support in this task should be provided by a group/body with a remit to encompass all RD topics, beyond ERNs alone
ERNs should be specifically and adequately funded to develop and conduct natural history (and where possible accompanying biomarker) studies, a minimum of 5 every 2 years, to build the knowledge base and capacity for clinical research in neglected diseases/areas lacking research

This input will facilitate the prioritisation of recommendations in policy-making activities over the coming months and years. The views of the wider RD community are also being sought through a EURORDIS Rare Barometer Survey (see European Policy News in this issue for more details).The final outcomes from the ERN workshop will be reported in a separate Rare 2030 report in January 2021 and the key outcomes will be included in the wider recommendations resulting from the Rare 2030 Foresight Study. These full results will be presented to the European and national policy makers and key opinion leaders during the Rare 2030 Final Online Conference which will be held on 23 February 2021, in the Rare Disease Week, with recommendations to be made on the most critical areas requiring robust policies.

Those interested can find more information on the project and how to join the final event on the project website.

Read the preliminary results from the event

Spotlight

People living with a rare disease experienced disruption of care during first COVID-19 wave

EURORDIS, the European Organisation for Rare Diseases, has published results of a multi-country survey on the effects of the first wave of Covid-19 on the estimated 30 million people living with a rare disease (RD) in Europe. The results outlined the hardship experienced day-to-day living, in terms of care, treatment, and living conditions, of nearly 7 000 RD patients who responded to the survey.

According to the survey conducted between 18 April and 11 May 2020, the first wave of Covid-19 created extra risks for RD patients with 84% of RD patients faced disruption of care following the first wave of Covid-19. 64 % of respondents indicated that the first wave of Covid-19 had an impact to their health or to the health of a RD patient they care for. Different areas were impacted due to the pressure placed on healthcare systems during the pandemic, for example medical interventions, diagnostic tests, and care disruptions, with consequences on the mental health of people living with a rare disease (6 in 10 RD patients saw their psychiatry follow-up interrupted).

For EURORDIS, the reintroduction of lockdowns throughout Europe need appropriate measures to mitigate the aforementioned impact on vulnerable populations, such as those living with rare diseases. EURORDIS issued a series of recommendations during the first wave of Covid-19. The measures proposed include a minimum support service and assistance for vulnerable people, such as RD patients, concrete measures to meet the complex needs of RD patients (of care and services for RD patients, and use of virtual consultations, telemedicine) and in-home care when applicable.

EURORDIS also called for continued and reinforced efforts to protect the vulnerable in general, and RD patients in particular. For those interested in accessing more information on Covid-19, EURORDIS has made available a collection of rare disease orientated documentation via an online information resource centre.