From Unseen to Seen: Why Making Rare Diseases Visible Matters for Access to Care in the United States

Across the United States, more than 30 million people are living with a rare disease.¹ Yet for too many patients and their families, these conditions remain unrecognized within healthcare systems. On average, an accurate diagnosis can take five years or more,¹ though access to care varies by geography, and the full physical, social and economic impact of rare diseases is obscured by fragmented data systems.

A new World Economic Forum (WEF) white paper, Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion Dollar Opportunity, makes the case that better data infrastructure is the key to unlocking progress. When rare disease patients are represented in data, they can be accounted for in policy, healthcare delivery and investment in innovation—and that has powerful implications for access to treatments and care in the US and beyond.

Rare disease as a proving ground for innovation

The US healthcare ecosystem is uniquely positioned to advance the concepts outlined in the WEF paper. It has rich clinical data, advanced research and development capabilities, and a regulatory environment that has historically adapted to diseases with high unmet needs. But those strengths coexist with fragmentation: data is siloed across health systems and states, making it difficult to accurately diagnose patients early, track disease progression or understand the full burden of rare diseases.

Rare diseases are where many healthcare breakthroughs happen first. Approximately 80% of rare diseases have a genetic origin,² and advances in genomics and precision medicine are frequently piloted in rare disease settings before reaching mainstream medicine. Small, geographically dispersed populations necessitate AI enabled decision support, flexible regulatory approaches, and patient informed development, the use and development of which all shapes the entire healthcare ecosystem.

Access to care starts with visibility

In the US, healthcare challenges are magnified by geography and socioeconomic status. Access to specialists, advanced diagnostics and coordinated care can vary dramatically from state to state and community to community. Patients with rare diseases—who already face long odds of timely diagnosis—are disproportionately affected by these gaps.

The WEF paper highlights how connecting and more intelligently analyzing existing data sources—electronic health records, registries, diagnostic platforms, and analytics tools—can change that equation. When these systems work together, patients who have been overlooked can be flagged for further evaluation, shortening the path to diagnosis and reducing unnecessary testing. Earlier identification creates earlier opportunity: for intervention, for coordinated care and for better outcomes.

This is why data standards, trusted data sharing, and responsible use of AI matter. They are not technical exercises; they are mechanisms for ensuring that patients are not lost simply because their condition is uncommon.

Collaboration is the multiplier

No single organization can deliver the scope of change required. Reducing diagnostic delays, modernizing health systems and embedding equity into care require sustained engagement across patient communities, healthcare providers, payers, regulators and industry. In the US, scientific advancements happen when these groups move in lockstep—aligning incentives, modernizing policy frameworks, and embedding patient experience into decision making. Rare diseases show what is possible when systems are designed around real people rather than isolated data points.

Why this matters now

Rare diseases affect more than healthcare outcomes; they shape economic participation, family stability, and workforce productivity. When patients wait years for answers, costs accumulate across systems. When systems work better, everyone benefits.

For the United States, this is an opportunity to continue leading by showing how smarter data infrastructure can advance equity and how rare disease innovation can strengthen healthcare for all.

Read the World Economic Forum white paper to explore how better data can help make rare diseases count.