How can data, healthcare access and global collaboration advance health equity in rare diseases?

Living with a rare disease is inherently inequitable. More than 400 million people worldwide live with a rare disease, yet in many countries, it can take years to receive a diagnosis.¹ Even once a diagnosis is confirmed, fewer than 10% of known rare diseases have an approved treatment.¹

People living with rare diseases face inconsistent access to diagnostics, specialist care and treatments. These disparities are amplified in rural and lower-resource settings. The result is a persistent global gap between what is scientifically possible and what is practically accessible.

Patients often navigate fragmented health systems where incomplete data keeps them unseen, contributing to delayed and misdiagnoses, and barriers to care resulting in significant economic strain for families, health systems and economies. As a lead partner in the development of the World Economic Forum’s report “Making Rare Diseases Count,” Alexion has collaborated with patient groups, healthcare stakeholders and industry to bring this issue into sharper focus, underscoring the need for stronger evidence to improve outcomes and greater health equity for people living with rare diseases.

How can rare disease data improve diagnosis and health equity?

A significant hurdle to improving outcomes is visibility. Health systems cannot effectively serve populations they cannot fully see. When patients are represented in data, their lived experience can be reflected in policy, healthcare delivery and investments in innovation. Yet today, rare disease data remains dispersed across health systems and countries, and in many cases is not captured at all. Even when it is collected, it is incomplete or fragmented, mirroring the disconnected nature of the care journey itself.

Strengthening data infrastructure through interoperable systems, shared standards and responsible data use can help close this evidence gap. Registries and integrated data sources help advance understanding and enable earlier identification of patients. Visibility is more than a technical challenge. It is the foundation for equitable care.

The impact of not being represented is profound. Global estimates of the economic impact of rare diseases puts this impact at trillions of dollars annually, costs that are absorbed by families, health systems and countries. Closing the data gap systematically would unlock opportunities for earlier intervention, improved patient outcomes and the ability to demonstrate lasting impact for patients, families, and healthcare systems over time

Yet significant evidence gaps remain. In many regions, much-needed data on the health, societal and economic impact of rare diseases is still lacking, leaving patients underrepresented in the evidence that informs healthcare priorities, policy decisions, and resource allocation.

How can innovation and AI improve rare disease diagnosis and access to care?

Rare diseases have long served as a proving ground for innovation. Advances in genomics and digital health are transforming how diseases are detected and understood. However, effective genetic screening and diagnostic tools remain out of reach for many, even though most rare diseases have a genetic basis. This creates a disconnect, where innovation is moving forward, but access is lagging.

Accelerating diagnosis can open a vital window for intervention, improving outcomes and reducing the burden on patients and healthcare systems. Emerging technologies, including AI, hold tremendous promise to help bridge this gap by identifying patterns in complex datasets and helping clinicians recognize rare disease signals that might otherwise be missed during routine care.² The challenge now is ensuring these innovations reach patients everywhere.

When the patient experience is absent from the data, patients risk becoming invisible in the decisions that shape their care. Deeper understanding of the patients’ perspective, combined with a commitment to ensuring advances in diagnosis and care reach all communities, not just those served by well-resourced health systems, will be critical to realizing the promise of innovation for people living with rare diseases.

Why Is rare disease health equity Important for patients and communities?

The burden of rare diseases affects more than health outcomes. It affects education, employment, economic participation and family stability.³ When patients wait years for answers or cannot access care, the impact is widespread. Better data, a stronger evidence base and global collaboration present a unique opportunity to improve outcomes and advance health equity

But progress starts with visibility. When patients are seen in data, in policy and in healthcare systems, they can be diagnosed earlier, treated more effectively and supported more comprehensively.

The path forward is clear: strengthen data systems, expand access to innovation and work collaboratively to close persistent gaps across regions and populations. Done right, progress in rare diseases can strengthen health systems for everyone. At Alexion, we are committed to partner with the rare disease community to help make the invisible, visible and drive change for patients worldwide.

To learn more about how better data can drive visibility, unlock innovation and advance health equity people living with rare diseases, download the World Economic Forum white paper, Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion Dollar Opportunity.