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avril 2022

European Health Data Space: Unlocking the potential of health data for rare diseases


Sharing health data to advance scientific research and improve clinical practice is of particular importance to the rare disease community, where knowledge and expertise are limited, patient populations are geographically dispersed and their health data is scattered.

Next month, the European Commission is expected to propose a new governance framework for health data – a European Health Data Space (EHDS) – which aims to connect European national health systems to ensure a secure and efficient health data transfer across Europe. Henceforward, such exchange would foster evidence-based care, promote informed health policy decision making, reinforce healthcare delivery and encourage data re-use to support research and accelerate the development of new rare disease treatments, medicines, and medical devices. 

97% of people living with a rare disease are willing to share their health data to foster research on their own disease, and 95% are also willing to share their data to improve research on diseases other than theirs. [1]

Health data space and a promise of innovation for people with rare diseases

There are 6000 various rare diseases affecting over 30 million people across Europe, but only 6% of all known rare diseases have curative treatment. Health data, coupled with active patient engagement and connected clinical and research networks, is the recipe to transform care delivery and drive research and innovation. For this reason, data sharing should be optimised across infrastructures and countries, relying upon commonly adopted governance frameworks, standards and interoperability requirements, to foster innovative solutions that address the high unmet needs of the rare disease patient population.

The European Health Data Space will be built on 3 main pillars: (1) a strong system of data governance and rules for data exchange, (2) data quality, and (3) strong infrastructure and interoperability. This will help to leverage the technological advancements that enable health data sharing for primary (e.g. healthcare provision) and secondary (e.g. research) purposes. Overall, it promises to advance research, diagnosis, treatment and care for people with rare diseases through increased and meaningful data sharing.

Cross-border access to health data

Access to cross-border health data would become possible within a trusted governance framework based on clear rules and standards. A framework for the use and re-use of health data will be established, further facilitating the creation of a strong cross-border data management system and corresponding rules for health data exchange. This also includes setting up high standards for data quality and security, which are particularly important to prevent data-related risks for patients.

As such, this would also lead to better health outcomes for people with rare diseases, making it easier to share their data with different healthcare professionals and in different settings to enable the delivery of health care provision. As many need to travel to another country to receive adequate treatment and healthcare or for professional and personal reasons, safe and timely sharing of their health data across countries is key. Harmonisation and interoperability of electronic health records across Europe should be encouraged by introducing a mandatory certification scheme for the Electronic Health Record (EHR) systems. Increased access and data sharing in a cross-border environment are also likely to result in enhanced research opportunities, thereby building capacity for faster diagnosis and better management of rare conditions.

The European Health Data Space and data protection

In addition, the European Health Data Space aims to address some of the barriers to health data sharing in the European Union. Due to its high sensitivity, the EU’s General Data Protection Regulation (GDPR) classifies personal health data as a special data category and prohibits its processing, unless exceptions apply. Data exchange is further hampered by national legislation that imposes additional requirements and restrictions, and this varies from one country to another. Consequently, the lack of harmonised rules and standards on health data sharing across Europe becomes a burden to advancing rare disease research.

There is a clear need to find the right balance between ensuring that patient data is safe and secure and allowing this data to be made available for the development of new therapies and treatments. In particular we must prevent data from being used to enable discrimination for insurance, loans and work.  A cohesive data ecosystems should be developed at a national level, linking seamlessly via findable, accessible, interoperable and reusable (FAIR) data approaches to an integrated European ecosystem, positioned within the European Health Data Space and other key infrastructures. Legal and ethical guidelines should incentivise practices that best lead to addressing patients’ concerns while respecting European and national laws – particularly the preferences and privacy of people living with a rare disease and their families.

80% of people living with a rare disease wish to keep control over their data to avoid their information being used without their consent or in a different context from the one they disclosed. [2]

The role of patient engagement

To understand what people living with a rare disease expect from rare disease research and data sharing, it is important to engage them all along the process while making sure their wishes and needs are embedded within research and healthcare delivery design.

Over the last years, EURORDIS has actively identified and promoted the specific challenges and needs of people with rare diseases with regard to health data at the European and international levels. We have participated in several research projects to develop concepts and tools to address some of these challenges, used tools, such as Rare Barometer, to produce quantitative evidence of patient perspectives and fostered multi-stakeholder dialogue to promote rare diseases as a pioneering user-case and to formulate concrete proposals.

Given the high relevance of the upcoming legislative proposal to the rare disease patient community, EURORDIS will be actively contributing to shaping this legislation, which will be outlined in a position paper to be released this summer. In particular, we will make sure the legislation reflects patients’ needs – both in terms of developing robust standards to ensure secure, ethical and responsible data sharing and allowing health data to be seamlessly shared across borders to benefit every person living with a rare disease in Europe.

[1] EURORDIS-Rare. Diseases Europe: Share and protect our health data! Rare disease patients’ preferences on data sharing and protection, January 2020.

[2] Idem.


Stanislav Ostapenko, Communications Manager, EURORDIS