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Optimising the use of data and digital health

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Data and digital health are crucial in improving care for people with rare diseases, offering better diagnosis, treatment, and access to information. Diagnosing rare conditions is frequently hindered by low awareness and limited clinical understanding, leading to protracted diagnostic odysseys that all too often culminate in misdiagnosis or a lack of diagnosis altogether. By enhancing the collection and analysis of health data, healthcare providers can identify rare diseases earlier, and more accurately. 

Digital health tools, meanwhile, are changing the game by enabling personalised treatment plans, which use patient data and genetic information to meet individual needs. For individuals with rare diseases, finding accurate information and support is challenging due to the conditions’ rarity. Digital health technologies can help fill the gaps in information and support by providing educational content, support networks, and telemedicine services, thus improving patient care and support. 

Furthermore, the scarcity of data for research is a significant challenge in advancing rare disease treatment. Digital health tools help by facilitating data collection and analysis, accelerating the research on new treatments and opening new avenues for discovery, thereby propelling the field of rare disease care forward. 

The implementation of the European Health Data Space (EHDS) at the EU level is set to significantly enhance the use of data and digital health tools for the benefit of people living with rare diseases, while ensuring data privacy and security. It is imperative that European and national policymakers seize every opportunity to optimise the use of data and digital health, improving outcomes for those living with rare diseases. 

The potential of harnessing data

According to a EURORDIS Rare Barometer survey, rare disease patients want to share data, in a way which is safe, and in accordance with ethical and legal norms.  

In the survey of 2,013 participants, who either lived with a rare disease or were family members of someone who did, it was revealed that: 

97% were willing to share their health data for research on their disease.*

97% were willing to share their data to develop new treatments for their disease.* 

97% were willing to share their data to improve diagnosis of their disease.* 

95% were willing to share data to improve research on diseases other than their own.* 

*EURORDIS Rare Barometer (2020) Share and protect our health data!. (Patients’ willingness to share data is also dependent on assurances relating to data protection, patient privacy, respect for patient choices, and clear information about how health data may be used.)

The European Health Data Space 

Initially proposed by the European Commission, the European Health Data Space (EHDS) is currently on the way to being implemented, with the goal of revolutionising EU health data management. It will aim to improve the use of data and digital health tools, benefiting over 30 million Europeans with rare diseases by ensuring data sharing for healthcare service provision, research, policy-making and innovation. 

As a central figure in improving healthcare for those with rare diseases, EURORDIS is crucial in shaping the EHDS, representing the interests of our community. 

EURORDIS objectives on data and digital health

EURORDIS is at the forefront of improving health data management for rare diseases across the EU, with a focus on implementing Electronic Health Records (EHRs) to support early diagnosis, treatment, and research for rare disease patients.  

We advocate for the standardised use of patient data to advance research and develop personalised healthcare solutions.  

We also push for the establishment of secure, reliable telemedicine services to ensure patients have access to specialist care regardless of location, addressing significant challenges in accessibility and logistics. 

Furthermore, EURORDIS emphasises the importance of digital literacy in the rare disease community, promoting educational initiatives and resources to empower patients, healthcare professionals, and stakeholders to effectively use digital health tools. 

All of these efforts are crucial components of EURORDIS’ mission to enhance healthcare outcomes and access for Europe’s rare disease community. 


Delivering Electronic Health Records at the European level 


Establishing harmonised approaches for rare disease patient data secondary uses 


Creating trustworthy and safe telemedicine services for rare disease patients 


Developing digital skills in the rare disease community 

EURORDIS initiatives, projects and networks

  • Rare Disease Day: An annual event held on the last day of February each year to raise awareness of rare diseases, including the need for improved data optimisation and digital health deployment.
  • Rare Barometer Programme: A survey-based initiative that collects data from rare disease patients and their families to better understand the challenges they face, including issues related to data and digital health. In 2020, EURORDIS Rare Barometer published the factsheet: Share and protect our health data! Rare disease patients’ preferences on data sharing and protection. This factsheet reported on the key findings of a survey of 2,013 participants, who either lived with a rare disease or were family members of someone who did, on the topic of health data sharing.
  • Digital and Data Advisory Group (DAG): The DAG is comprised of volunteer patient advocates nominated for a term of three years. They pursue all aspects regarding digital policies and procedures and advise EURORDIS in matters that range from situation assessment to strategic decision making.

Learn more about EURORDIS initiatives

  • European and Joint Project on Rare Diseases (EJPRD) : A programme aiming to create an effective rare diseases research ecosystem for progress, innovation and for the benefit of everyone with a rare disease, by funding research, bringing together data resources & tools, providing dedicated training courses, and translating high quality research into effective treatments.
  • The joint action Towards the European Health Data Space (TEHDAS) : Ended in August 2023, with the aim to help EU member states and the European Commission to develop and promote concepts for the secondary use of health data to benefit public health and health research and innovation in Europe. This was so that in the future European citizens, communities and companies would benefit from secure and seamless access to health data regardless of where it is stored.
  • FACILITATE: The project is looking at ways to return data to patients participating in medical trials, aiming to implement best practice for handling personal data protection regulations, and generate recommendations on which, when, and how data should be returned to study participant. It will also create a framework to allow the re-use of clinical trial data. Patients will be at the centre of data governance thanks to advanced communication tools and participatory technologies.

 Learn more about EURORDIS projects and partnerships 

  • The European Reference Networks (ERNs) – the integration of data within the ERN framework enhances collaboration, innovation, and patient-centred care, ultimately improving outcomes for individuals with rare and complex diseases across Europe.
  • The European Commission’s eHealth Stakeholder Group – members of the eHealth Stakeholder Group are all umbrella organisations and associations with a european outreach, representing the health tech industry, patients, healthcare professionals and the research community. They provide advice and expertise to the Commission, particularly on topics set out in the Communication on enabling the digital transformation of health and care.

Learn more about EURORDIS projects and partnerships

“ A lack of data on specific rare diseases and a lack of joined-up health records were big obstacles to finding a diagnosis for my son. It should not have taken seven years for my son to receive a diagnosis.”

Iuliana Dumitriu, a rare disease advocate and the mother of a son with Coffin-Lowry Syndrome, Romania

Call to Action and Policy Recommendations

People living with a rare disease benefit from optimised health data management and digital health innovations, fostering better healthcare outcomes.

The recommendations are:

  • Harmonise and Optimise Electronic Health Record (EHR) Systems: To ensure timely and safe cross-border health data sharing, there must be a concerted effort to harmonise and optimise Electronic Health Records (EHRs) across EU countries, thus facilitating improved cross-border healthcare.
  • Guarantee Health Data Ethical Usage: EURORDIS calls for the establishment of ethical guidelines governing the secondary use of health data, allowing for its use in research, innovation, policy-making, and more. Access to such data should follow a trusted governance framework, with clear rules and European Reference Network(ERNs) guidance.
  • Promote Digital Health Literacy: Aiming to inform decisions on sensitive health data categories, EURORDIS highlights the need for educational programmes to enhance digital health literacy among patients and professionals.
  • Foster Patient Engagement: EURORDIS emphasises the importance of involving patients and the public in policy and programme design to ensure that digital health and data-sharing initiatives align with the needs and expectations of those living with rare diseases.

How can you and your patient organisation make a difference in the realm of data and digital health?

People with rare diseases and their groups are key to advancing digital health efforts. You can champion the need for more digital health tools by linking with experts in your field, help shape these tools to suit your requirements, start or add to digital registries to share patient data for service improvement, participate in surveys to voice your digital health preferences, and take an active role in data and digital health initiatives.

Patient representatives can also become integral to the development and refinement of digital health tools by taking the online EURORDIS Open Academy courses focused on data sharing and digital health. These include courses on patient registries and data sharing.


EURORDIS Open Academy courses on data and digital health

Registries: how can you work with existing registries or set up a registry?
Duration: 1h30

Sharing patient data
Duration: 4h30

Podcast episodes

EURORDIS Podcast: Rare on air

Transforming Healthcare through Sharing Data

Rare on Air host Julien Poulain delves into the crucial role of effective health data-sharing systems for patients with rare diseases.

Latest events

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Contact person

Jelena Malinina,
Data Director