Eurordis - Rare Disease Europe

JARDIN 101: The Purpose. The Plan. The Potential.

Rare diseases pose a significant challenge in healthcare due to the scarcity of specialist knowledge and treatment options. Across Europe, the medical needs of people living with a rare disease are often not adequately met at local or national levels.

This backdrop has necessitated collective EU action to concentrate expertise, facilitate knowledge sharing and access to specialised care, and improve patient outcomes, resulting in initiatives like the European Reference Networks (ERNs), which first launched in 2017. Most recently, collective EU efforts have included the EU Joint Action on Integrating ERNs into National Health Systems (JARDIN).

The 24 ERNs – which each connect healthcare providers, experts, and patient organisations across borders to exchange information, develop and curate knowledge and health data assets, and facilitate discussion on complex or rare diseases – have undoubtedly a huge potential to improve health outcomes if they are well connected with national health systems.

But what exactly is JARDIN? Where does it come from? What is its purpose? What is the plan for its implementation?

And, most crucially, what potential does JARDIN hold for improving the healthcare of rare and complex conditions?

We break down everything you need to know about the Joint Action.

In the early days of the ERNs, one year after their establishment in 2017, EURORDIS – Rare Diseases Europe set forth 10 recommendations for ERNs’ deeper integration at the national levels, which were followed by the ERN Board of Member States’ pivotal statement in 2019, which accepted most of EURORDIS’ recommendations. The multistakeholder Rare 2030 Foresight Study recommendations released in 2021 further underscored the relevance of integrating the ERNs with national health systems, identifying additional areas of work in this domain.

It was at the formal kick-off meeting in Brussels in March 2024 where the purpose and ambitions of JARDIN were further detailed, and where the European Commissioner for Health and Food Safety, Stella Kyriakides, declared: “When it comes to rare diseases, we can only change the lives of patients if we work ever more closely together.”

Health systems consist of myriad elements from individuals to organisations, infrastructures, and technologies. For these systems to promote, restore, and maintain citizens’ health, every component must be closely connected. It is therefore vital that decision-makers grasp the intricate interactions, dynamics, and feedback loops within these systems to tackle health challenges effectively.

Health systems are not linear structures, but complex multilevel ecosystems where decision-making at the national, regional, and local levels requires close coordination. Integrating the supranational level that ERNs represent adds additional complexity to health system management that needs to transcend national boundaries for collective action across Europe.

Thus far, the European Reference Networks (ERNs) have operated in a somewhat detached manner from national health systems, both operationally and from a governance perspective. Several issues are preventing the seamless integration of both levels; not surprisingly, some refer to aspects directly linked with national rare disease policies and the organisation of healthcare for rare diseases.

These issues include:

• Unfit national governance systems for rare diseases: This leads to major shortcomings such as unclear and fragmented healthcare pathways, a lack of transparent procedures for designating Expert Centres and establishing a national accreditation system., inadequate information systems to support decision-making, and poor oversight of a system’s performance.
• Lack of Awareness: People living with a rare or complex condition, local healthcare providers and health professionals may not currently be aware of the ERNs, what they do, how they work, or how to access their resources and services.
• Lack of validated methodologies and clear guidance: There is often no clear guidance on how to use and adopt ERNs’ knowledge assets, such as clinical practice guidelines, to optimise care delivery.
• Inadequate referral systems: There are insufficient systems to refer cases from the national level to the ERNs for expert advice, integrate ERN advice into patients’ electronic health records, and ensure follow-up.
• Fragmented national ecosystems: The national ecosystems of Expert Centres and patient organisations are fragmented, which hinders the possibility of experts and non-experts (who do not participate directly in the ERNs) to network, share knowledge, and build their capacities.
• No integrated pathway for undiagnosed patients: Systems often lack a pathway that connects the national infrastructures with the ERNs.
• Insufficient support for Expert Centres: A lack of support from health authorities and healthcare providers for the Expert Centres and teams collaborating in the ERNs hinders their ability to stay actively involved in the Networks, improve care processes in their centres using ERN-generated knowledge, and contribute to the training and capacity building of other health professionals and teams nationally.

Currently, these issues are preventing the rare disease community, as well as national health systems themselves, from reaping the full benefits that ERNs are designed to provide.

JARDIN will offer health authorities recommendations, models, and implementable solutions to guide their integration strategies, as they strive to create a seamless continuum of care at all levels.

JARDIN is committed to advancing the integration of the supranational level by developing recommendations and implementing solutions in real-world settings such as hospitals, Centres of Expertise, and health systems’ infrastructures. Continual feedback on these solutions’ effectiveness will inform further refinements to optimise healthcare outcomes.

Central elements of JARDIN’s mission include strengthening national support for the Expert Centres involved in ERNs and optimising care pathways and referral systems. They also focus on establishing national reference networks or similar strategies to facilitate system integration at multiple levels and creating national programmes for undiagnosed conditions connected with the ERNs.

Additionally, JARDIN is supporting EU efforts to enhance health data sharing across local, national, and European levels, to support diagnosis, treatment, research, healthcare management and policymaking efforts.

JARDIN is structured around nine work packages, categorised into four transversal and five technical areas of work.

The five technical areas of work, or work packages:

• National Governance and Quality Assurance Models (WP5): This work package is developing frameworks for national rare disease governance and quality assurance.
• National Care Pathways and ERN Referral Systems (WP6): This work package is optimising care pathways tailored to patient needs and improving referral systems for accessing ERNs’ specialist advice.
• National Reference Networks and Undiagnosed Disease Programmes (WP7): This work package is proposing recommendations and models to create or enhance national networks and other mechanisms. These recommendations aim to improve coordination and knowledge sharing at the national level, serve as an interface with ERNs, and develop programmes for undiagnosed conditions.
• Data Management (WP8): This work package is focusing on improving the management and sharing of health data across ERNs and national infrastructures.
• National Support Options for ERN-Healthcare Providers (WP9): This work package is offering recommendations to improve support to Expert Centres that participate in the ERNs, including training, working conditions and resources.

The four transversal areas of work, or work packages:

• Coordination (WP1): This work package is supporting effective collaboration and alignment across JARDIN’s various components.
• Dissemination (WP2): This work package is focusing on raising awareness about ERNs and their value at a national level, targeting specifically health professionals and the patient community, while also focusing on communicating JARDIN’s objectives, progress, and outcomes to a wide audience.
• Evaluation (WP3): This work package is offering a critical assessment of JARDIN’s activities to measure impact and provide insights for continuous improvement.
• Sustainability (WP4): This work package is supporting strategies for maintaining and building upon JARDIN’s achievements beyond the lifespan of the project.

Supported by 58 partner institutions across 29 participating countries – including all EU countries, Norway, and Ukraine –JARDIN has a budget of €18.75 million for three years. The overall Joint Action is led by Professor Till Voigtländer, from the Medical University of Vienna in Austria.

By including Ukraine as an associate partner, JARDIN will facilitate the exchange of knowledge and expertise between Ukrainian patients and clinicians, and their EU counterparts. Additionally, JARDIN will extend support to the Ukrainian Rare Diseases Hub, assisting those living with a rare or complex condition in maintaining access to healthcare services amid the disruptions of war.

The project’s comprehensive and ambitious approach is a step in the right direction to ensure multilevel integration (local, national and supranational) and the interconnection of all systems components, potentially paving the way for improved care delivery and outcomes for people living with rare and complex conditions across Europe.

JARDIN’s outcomes over the next three years hinge on the commitment of national health authorities and the rare disease community at large in each country to engage with the Joint Action in a systematic and structured fashion. The project will require constant interaction with national stakeholders to ensure that the recommendations, models and solutions proposed are readily implementable. The challenge for JARDIN is the diversity of health systems in Europe and the varying readiness of each health system to connect with the supranational level.

JARDIN will propose solutions and simulation models. However, health authorities at national and subnational levels are ultimately responsible for implementing their own actions and planning their roadmap for integration, applying health systems thinking to envisage how the ERNs will interact with other system components in their country.

National solutions for integration must be built based on a detailed analysis of the population’s needs and a deep understanding of the health system’s leverage points, feedback loops, interconnections, and interactions. These interactions occur between the system’s structures, people, and functions.

Finally, the sustainability of the Joint Action is a major priority. This refers to the long-term impact that the initiative will have. Possibly by 2027, not all countries will have implemented all measures, reforms, and actions required to integrate the ERNs, but they should all have a comprehensive implementation plan for integration. Ideally, this plan should be anchored in the national rare disease strategy, with a clear timeline, milestones, and resources allocated to get integration across the finish line.

Crucially, the true success of JARDIN should be evaluated in 2030, based on the extent to which a well-integrated multilevel healthcare system for rare and complex conditions is contributing to improve health outcomes. This assessment should focus on achieving more equitable and sustainable improvements in access to specialised healthcare and better health outcomes for people living with rare and complex conditions.

Julien Poulain, Communications Manager