Making Rare Diseases Count 2026

Summary of rare disease data strategies and stakeholder roles TABLE 3 Define and track a minimum dataset across countries Why How Who Lack of alignment in data collection creates blind spots around one of the largest cost areas in healthcare systems, weakening the collective case for investmentStandardize data collection to build a global knowledge base, starting with a core set of metrics aligned with international data standards and able to collect across all health systemsHealth authorities lead, with governments providing resources, patient groups ensuring relevance and payers and employers contributing data and insights Strengthen patient engagement in data collection Why How Who Disease registries and other patient- centred datasets yield insights and evidence that improve care and help clinicians, drug developers, regulators and payers make better decisionsDesign and fund data systems that are participatory, equitable and interoperable across borders, engaging patients as co-creators in governance and implementationPatient groups lead, supported by public and private funders, with efforts aligned and integrated into registries initiated by industry, government and healthcare systems Improve newborn screening and diagnostic capacity Why How Who Early diagnosis leads to better health outcomes while generating more accurate and unbiased prevalence estimates, strengthening the overall evidence base for rare diseasesStrengthen newborn screening and diagnostic testing, using next-generation sequencing and AI where appropriate, and ensuring data is preserved, shared and used to improve careHealthcare systems lead, working with private screening and diagnostic firms, laboratories and payers to align incentives Enable trusted data sharing across health systems Why How Who Fragmented and siloed data systems limit the visibility, usability and trustworthiness of rare disease data, causing duplication of effort and slowing innovationBuild secure, federated data systems that connect datasets across health systems, aligning technical standards, governance models and regulatory approaches to enable ethical, transparent and interoperable data sharingRegulatory authorities lead, partnering with health ministries, technology firms, industry and patient organizations to ensure effective implementation Use AI and digital tools to address evidence gaps Why How Who Rare disease data is often unavailable, fragmented or hard to analyse, limiting its value for patients, researchers, healthcare systems, payers and policy-makersApply AI and digital tools to generate, integrate and analyse data while maintaining privacy, interoperability and utility across settingsTech providers lead by developing solutions, with implementation driven by patient groups, healthcare systems, payers, employers, governments, industry or other users Source: World Economic Forum, Rare Disease Community analysis With better data and smarter investment, countries can align around a shared agenda for rare diseases and unlock a multitrillion-dollar opportunity for economic and social value. Rare disease research and innovation have already reshaped what medicine can achieve; with global coordination, they can help build a fairer, more resilient future for all. Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity 29