
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.
1
Delivering Electronic Health Records at the European level
2
Establishing harmonised approaches for rare disease patient data secondary uses
3
Creating trustworthy and safe telemedicine services for rare disease patients
4
Developing digital skills in the rare disease community