Context of the ECRD 2022
European policies are influenced by the individual priorities of member countries. A priori, rare diseases are on the agenda of the Council of the EU, which will be presided over in turn by France, the Czech Republic and Sweden from January 2022 to the end of June 2023. ECRD 2022 has been labelled as an official event of the French Presidency 2022 of the Council, which shows considerable support and willingness to prioritize rare diseases.
At the international level, the adoption in December 2021 by the United Nations of a Resolution calling for "addressing the challenges faced by people living with a rare disease" is equally exciting, especially as it provides an opportunity to align the UN and EU agendas.
It is therefore time to consider a new European framework for action on rare diseases in Europe. This framework would set three main objectives and several secondary objectives to address the challenges observed in Europe:
These goals correspond to several of the Sustainable Development Goals (SDGs) of the United Nationswhich would help Europe to achieve them more quickly.
The ECRD will be the perfect opportunity to reflect together on how to put these proposals into practice.
ECRD 2022 program
ECRD 2022 has been labelled an official event of the French Presidency 2022 of the Council of the EU.
The ECRD 2022 program reflects the above-mentioned opportunities and policy objectives. It also gives voice to European and international institutions, opinion leaders in the field, and people living with rare diseases to define the best possible framework for action.
ECRD 2022 will be held entirely online for 5.5 days, building on the success of the last edition, which was already held via videoconference, extending its reach to key stakeholders, highlighting strong political support, and creating momentum for implementation. ECRD 2022 will also be one of our most inclusive and green conferences to date!
The Conference will open with a plenary session to set the stage. This will be followed by an orientation and networking session, along with several sessions with thought leaders.
Over the next three days, we will discuss how to achieve our 3 visionary goals for people with rare diseases, inspired by Rare2030 and to be realized in a new framework for action.
On the fifth day, the Closing Session will remind the audience that rare diseases need a European (beyond the EU) and even global approach. Participants will leave with a clear call to action, in the short, medium and long term.
To learn more, click on the topic titles:
Empowering people to live healthy lives and promoting wellness for all people with rare diseases, at all ages.
Sustainable Development Goal (SDG) 3, to enable all people to live in good health and promote well-being for all at all ages, is closely linked to the concept of universal health coverage (UHC). Achieving universal health coverage is about providing access to timely diagnosis, effective, appropriate, safe and affordable care and treatment to achieve better health outcomes.
The rare disease community envisions a future where countries, with increased solidarity, overcome healthcare fragmentation and access inequalities, through comprehensive and interconnected health and social insurance systems that meet the evolving needs of the 30 million people living with rare diseases in Europe.
While theRare2030 Foresight Study provides general guidance on how to achieve such a vision in the next 10 years, the rare disease community still needs to define the organisational and institutional arrangements that will help us realise this ambitious scenario, to transform care delivery and achieve better health outcomes. The first step is to identify specific measures to strengthen the institutional arrangements of health systems in order to address the well known access challenges faced by people living with rare diseases, and the second step is to propose innovative solutions to address the emerging issues that require a more profound transformation of our health systems.
Sessions A will address well-known "access" challenges, exploring immediate steps, approaches at hand, to improve access for all people with rare diseases to effective diagnostic tools, highly specialized care services, and associated treatments and interventions. Sessions B will seek to imagine new solutions to emerging issues related to early risk detection, such as the expansion of genetic screening. They will invite reflection on the pan-European arrangements that will underpin the future EU health system for rare diseases with the aim of ensuring ultra-specialized care for ultra-rare diseases and enabling the provision of advanced therapy drugs.
Each set of sessions will include a good practice workshop with supporting evidence, followed by a policy workshop. Workshops and sessions will address both upstream (screening and diagnosis) and downstream (health care and treatment) aspects with the aim of developing policy proposals that take into account the interdependencies between upstream and downstream health services as much as possible.
Other key elements of UHC, such as financial protection, promotion of well-being and social inclusion, will be addressed in the sessions under Objectives 2 and 3.
Reduce inequalities within and between countries by ensuring a level playing field for people with rare diseases
Focusing on the equitable treatment of people with rare diseases means identifying and removing systemic barriers through targeted measures, so that people with rare diseases have the same opportunities as others to achieve optimal health and well-being. Hence the need for a holistic approach, which takes into account the close links between physical, mental and social health and well-being, and which encompasses the whole life course.
A major barrier to improving the inclusion and participation of people with rare diseases and their families in society is the lack of knowledge and expertise in the field and insufficient awareness. Systems are not adapted to the complex needs of people with rare diseases. As a result, this population is psychologically, socially, culturally and economically vulnerable, facing discrimination and specific difficulties in health care and social assistance, education, employment and leisure. A situation that impoverishes and isolates them even more. People with rare diseases may face these difficulties at any time, or throughout their lives, which may be compounded by other factors such as gender, living in rural areas, or belonging to a racial or ethnic minority. The Covid-19 pandemic has had a major impact, straining already inadequate systems.
However, there are many opportunities to improve the recognition, understanding and knowledge of rare diseases and their impact on people living with them. Other actions or solutions can also be put in place to address these structural barriers. This is an essential approach to ensure that the rights of people living with rare diseases are respected (right to life, personal liberty, security, education, employment, adequate standard of living, access to the highest attainable standard of physical and mental health). In addition, ensuring a level playing field for people with rare diseases can serve the public interest of society as a whole. Such advances will benefit the millions of people with rare diseases and their families, while reintegrating a productive population into our economies, with crucial improvements in health care, social support and innovation far beyond the realm of rare diseases alone.
Create resilient infrastructure, promote an inclusive and sustainable industry, and foster innovation for people with rare diseases.
Session E will seek to create a seamless rare disease health data ecosystem in line with the resilient infrastructure that is referenced in SDG #9.
"In the coming decade, it will become a habit to leverage any relevant outcome and data to accelerate diagnosis, guide care and its management, improve care coordination, drug development, HTA and regulatory decisions, and inform health policy."
This vision of a seamless European health data ecosystem for rare diseases, as described by the Rare2030 Recommendations, is to create a coherent data landscape in which epidemiological, health, research, quality of life and treatment data are shared and linked, where possible, at the European and global levels. Data sharing for different purposes is optimized across infrastructures and countries, using common coding systems (Orphanet nomenclature), harmonized standards and interoperability requirements. According to this vision, the national data ecosystems are linked to the European ecosystem following "FAIR" (Findable, Accessible, Interoperable and Reusable) approaches to data processing.
Such an ecosystem, centered on the European reference networks and, by extension, their clinical research capacities, the European Rare Disease Registry Infrastructure and other major infrastructures would be well anchored within the European Health Data Space. It would benefit from this new data sharing framework while helping to build this space by taking into account the specificities of rare disease data, but also the needs and expectations of the rare disease community.
So how do we turn this vision into reality? Is the rare disease community ready to seize the opportunity that the European Health Data Space represents to address the challenges faced by people living with rare diseases? The answer is "not yet".
Using the health data journey as a compass to structure the discussions, these two sessions will help provide clarity among the myriad of existing initiatives and spark an honest discussion among stakeholders to understand what data is being collected, when stakeholders need it and why, and what would be acceptable terms for sharing the health data collected and managed by each party.
How do we ensure that data collected and used upstream (e.g., by research, for diagnosis, or for prescribing care) can be reused downstream (quality of care improvement, therapeutic development, regulatory process, decision making to implement policy measures and HTA) and vice versa, and how do we orchestrate it? What immediate steps should be taken to lay the foundation for a seamless European health data ecosystem for rare diseases that both leverages and contributes to the European Health Data Space?
The F sessions will focus on the second part of SDG #9, i.e. innovation, Europe's attractiveness for investment and drug development, and sustainability. The two main objectives:
- How to preserve Europe's attractiveness for therapeutic development for people with rare diseases?
- Can Europe be both attractive and sustainable?
To address these two questions, we will focus on what needs to be done to address the framework issues that will persist if we continue to operate within the current ecosystem of therapeutic development and patient access. What choices should we make if we are to create a society based on solidarity and equity, in line with the Rare2030 Recommendations?
First of all, if we analyze the life cycle of drugs, from their development to their accessibility, several friction points must be addressed. The first of these is the "valley of death" that exists between basic research and early development on the one hand, and the end of clinical trials on the other. This "valley of death" is not only problematic for rare diseases, but there are several specific issues and ways to reduce the risks associated with drug development in this area that need to be addressed. Another major hurdle is the methodological, operational and/or financial challenges associated with clinical trials conducted in small patient populations. This point illustrates the importance of the Directive on the Application of Patients' Rights in Cross-Border Health Care for clinical trials and funding mechanisms (investment funds, public funds, private funds, public-private partnerships). The third, but not least, sticking point is the fragmentation of the EU market: medicines are subject to a centralized European marketing authorization, but pricing and reimbursement conditions are subject to national or regional decisions. The ongoing review of the EU Orphan Drug Regulation and the general framework for the pharmaceutical sector will help the legislator to address some of the issues, but it will not solve everything. Innovative solutions for R&D and access to medicines will need to be considered to unlock the potential for diseases that are neglected today, to ensure the continued generation of evidence, and to enable market defragmentation, including new models of collaboration and financing.
In addition to these technical improvements, we will need to think about the society we want to live in and how people living with rare diseases want the ecosystem to evolve, while keeping rare diseases among the top political priorities. Referring to the Rare2030 Recommendations and the principles of solidarity, equity and social justice, what policy choices should be made in order to combine the attractiveness of the EU for business - ensuring that Europe is a good place to invest and innovate - and the resilience of health systems to the expenses associated with orphan drugs, but also the reduction of inequalities across countries and rare diseases? The central question is: how do we align values along the development chain? From a policymaker's perspective, what criteria should govern the allocation of resources across health budgets; how do we turn payers into buyers? On the developer side, where do we stand on ESG (environmental, social and governance) approaches in the perspective of the SDGs? What are the options for working upstream on assets, fair pricing, value-based pricing, procurement, sustainable bonds, etc.? How can we move from profit-driven approaches to approaches that generate social and environmental benefits? Would benefit corporation status be a good solution for companies? Should this type of indicator be associated with this values-based decision-making process? These are all questions we would like to discuss with you all!
