Making Rare Diseases Count 2026

Rare diseases are under-prioritized in many health systems, even though a growing evidence base indicates that well-targeted investments deliver significant returns. The benefits extend far beyond the patients, families and communities most directly affected; they also accrue to healthcare systems, employers, payers, governments, industry and investors (see Figure 2). Rare disease investments can take many different forms: funding research and therapy development; scaling screening and diagnostics; investing in rare disease medicines; deploying digital tools and AI; and strengthening system capacity. Across all of these areas, investment in data serves as both an enabler and an amplifier. While the opportunity for immediate financial return varies across contexts, targeted and low- cost investments in data can yield substantial and compounding benefits, including in low- and middle- income countries (LMICs) with constrained health budgets. Even simple actions such as establishing a patient registry or improving diagnostic reporting can enhance visibility, coordination and efficiency across a given health system. The sections that follow first describe the global challenge of rare diseases, then explore how sustained investment in rare diseases can reshape economies and healthcare systems.The case for investing in rare diseases How rare disease investments benefit everyoneFIGURE 1 FIGURE 2The challenge Rare disease opportunity Broader systemic impact Human health7,000+ rare diseases affect 300 million+ globally, with a disproportionate impact on childrenReduced patient suffering through earlier diagnosis and coordinated, data-driven careGreater socioeconomic participation for patients, caregivers and families, strengthening overall economic productivity Economic impact>$7T in annual global impact, largely from hidden, indirect and avoidable costsLower avoidable costs for rare disease patients, healthcare systems, employers, payers and governmentsResources liberated and redirected towards prevention, innovation and other socioeconomic priorities Science and technology~95% of rare diseases lack treatments approved by a major regulatory agencyNew treatments and care models enabled by data-driven research and developmentInnovation spillovers that accelerate progress across healthcare, industry and society Source: Rare Diseases International; IQVIA and Chiesi Global Rare Diseases Patients and caregivers Healthcare systems Employers Better care Lower out-of-pocket costs Greater workforce participation Improved quality of lifeSignificant cost savings Accelerated research translation More innovative careLower insurance premiums Stronger employee retention Enhanced corporate reputation Payers Governments Investors and industry Lower long-term costs Stronger evidence for coverage and reimbursement Improved member outcomesHigher economic productivity Better population health Less strain on social services Greater equityNew market opportunities De-risked R&D Faster time to market Improved return on investment Source: World Economic Forum, Rare Disease Community analysis Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 6