EHDS: A Key Future Piece of the Rare Disease Data Puzzle?

In my previous blogs, I covered the complex data puzzle of rare disease real world data (RWD) generation, highlighting the challenges posed by patient dispersal and the need to rethink traditional hierarchies of evidence. Today, I turn my focus to the future, to a ground-breaking initiative that promises to address some of these challenges: the European Health Data Space (EHDS). This initiative has the potential to revolutionize rare disease RWD generation by improving data sharing, standardization, and collaboration across Europe, given that patients with rare diseases are more likely to seek or require cross-border care. But much can still go wrong as shown by similar initiatives in the past so let’s explore how the EHDS could be a game-changer for the rare disease community and investigate its current state and future.

Understanding the EHDS

The primary goal of the EHDS is to enable secure, efficient, and standardized exchange of health data across member states, fostering a more connected and collaborative healthcare environment. For rare diseases, where patient populations are small and dispersed, the EHDS could be particularly transformative.? The EHDS envisions two uses for patient data; the primary use of data refers to the use of health data for providing direct care to patients. This includes accessing and sharing patient records across different healthcare providers to ensure continuity of care regardless of geographic location. This can lead to better-informed clinical decisions, reduced medical errors, and more personalized care.

The secondary use involves using health data for research, policy-making, and innovation. For rare disease research, this is particularly important as it enables access to a much larger and more diverse dataset than ever before. For those of us who have struggled to find sufficient patient samples in country-specific data sources even in the cases of health conditions with decent prevalence, this is paramount.

Yet perhaps the most important element to understand is that there’s still ample time to shape the initiative.? The EHDS is still in its development phase, following a political framework having been agreed in the spring of 2024.? Several pilot projects have demonstrated the potential for improved cross-border health data sharing, but moving the initiative forward will require additional changes to the legislative framework, expanding the necessary digital infrastructure, and a roll out across the EU. Continuous improvement will be a priority, which means that a good starting point would be to avoid failed initiatives in this space in the past.

Think of Care.data program launched in the UK to integrate patient data from general practices with hospital records to improve healthcare services and research. The program faced significant public backlash due to concerns over data privacy and consent, leading to its eventual cancellation.? Imagine the importance of these issues in rare diseases…?

Think of the HITECH Act in the US, which aimed to promote the adoption of electronic health records.? Lack of explicit focus on standardization and integration led to the development of fragmented systems and limited the effectiveness of the initiative.? Think how much more difficult this will be across the European country with different reimbursement systems and multiple languages.

Alright, it's easy to be sceptical and focus on the potential pitfalls. But if I had the opportunity to weigh in, especially with a focus on RWD generation in rare diseases, here's what I would suggest.

Why Do I Believe the EHDS Will Revolutionize Rare Disease RWD Generation?

Let’s start with the fundamentals.? One of the central goals of the EHDS is to improve the continuity and quality of care for patients across Europe, something particularly important for patients with rare diseases. Healthcare providers will have seamless access to a patient’s complete medical history, regardless of where care was provided within the EU.? For rare diseases, where patient history is crucial for accurate diagnosis and treatment, the EHDS will ensure that all healthcare providers involved in a patient’s care can access up-to-date and comprehensive health records. This reduces the risk of errors, unnecessary tests, or delayed treatments due to incomplete information.? This will extend to cross-border care. Easy access to data and a reduction in the logistical and administrative burden on both patients and healthcare providers is one less challenge to be dealt with for individuals who are striving to improve outcomes.?

My focus in this blog series, however, is on the secondary use case and the improvement to RWD generation for rare diseases for life sciences.? Ultimately, delivering on the primary use case will have a positive impact on the secondary use case as the underlying data will be of greater quality.? By standardizing health data across Europe, the EHDS will create one of the largest and most comprehensive data sets in the world. For rare diseases, where collaboration is essential due to the small and dispersed patient populations, this level of accessibility is a game-changer. Researchers will be able to combine data from multiple countries to conduct large-scale studies, improving the statistical power and reliability of their findings.? Time and cost savings should be significant.? For drug developers, access to a large, standardized data set, developers can more efficiently identify suitable candidates for clinical trials, understand disease progression, and assess treatment outcomes. This could lead to faster and more cost-effective drug development, bringing new therapies to market more quickly.

What Needs to Happen in the Next 5 Years for EHDS to Impact RWD Generation in Rare Diseases

To significantly impact RWD generation in rare diseases, I believe several specific actions need to be taken.

·?????? First off: scale pilot projects.? The research world is littered with failed pilot projects and lessons missed.? The pilot projects currently testing the feasibility of cross-border health data sharing need to be scaled up and do so quickly. For example, the “MyHealth@EU” pilot project, which allows patients to access their health data across borders, should be expanded to include rare disease-specific data. This expansion could involve integrating data from rare disease registries across multiple countries, allowing researchers to analyse larger, more diverse datasets. Scaling this project successfully would demonstrate the EHDS’s capability to handle the complex and diverse data needs of rare diseases.

·?????? Second, make sure to integrate data from multiple sources.? Make interoperability and harmonization core to this action.? Don’t just think routine data collection via electronic medical records or claims data. Rare disease registries across Europe should be integrated into the EHDS to create a comprehensive, centralized database. This would require not only technical integration but also aligning the registries with the standardized data formats and protocols established by the EHDS.? Think what International Consortium for Health Outcomes Measurement (ICHOM) attempted to do in this space, evolve it and apply.

·?????? Third, don't let data privacy and confidentiality be barriers to research—use stringent privacy measures to support and enhance it.? Robust measures must be established to build trust among patients and healthcare providers. The “eHealth Digital Service Infrastructure” project, which supports the cross-border exchange of health data while ensuring compliance with data protection laws, can serve as a blueprint. The EHDS should adopt similar security frameworks, ensuring that rare disease data is handled with the utmost care.

·?????? And finally, engage… engage… engage…? Engaging patients, healthcare providers, and other stakeholders is crucial for the success of the EHDS. The EUPATI initiative, which educates patients about the medical research process, could be expanded to include information about the EHDS and its benefits for rare disease research. By involving patients early and ensuring they understand how their data will be used and protected, the EHDS can build a more collaborative and supportive environment for RWD generation.

Cautious Optimism but Can We Afford the Wait?

The EHDS is the right step forward – it’s a good solution but is still years away from being real.? That’s why we must continue exploring and investing in other innovative ways to generate RWD in rare diseases. As we move forward, it’s essential to keep thinking globally and collaboratively, recognizing that rare diseases know no borders. We must also prioritize the development of solutions that are both cost-effective and rapid, ensuring that we can collect and analyse data in ways that are accessible to all regions, including those with fewer resources. By combining the strengths of the EHDS with other innovative, agile approaches, we can build a more comprehensive and inclusive strategy for advancing rare disease research and improving patient outcomes worldwide. In the next post, we’ll explore these alternative strategies, shedding light on cutting-edge methods that can complement the EHDS and further accelerate our progress.