重视罕见疾病：更好的数据如何解锁数万亿美元的机会（英）

Making Rare Diseases Count:How Better Data Can Unlock aMultitrillion-Dollar Opportunity W H I T EP A P E RF E B R U A R Y2 0 2 6 Contents Foreword3Executive summary41Why investing in rare diseases matters51.1The human impact of rare diseases71.2Reducing costs and unlocking economic gains91.3Advancing scientific discovery and healthcare innovation101.4The virtuous cycle: How rare disease investments compound122Unlocking impact with better data: Five strategies for success132.1Define and track a ‘minimum dataset’ across countries142.2Strengthen patient engagement in data collection152.3Improve newborn screening and diagnostic capacity172.4Enable trusted data sharing across health systems192.5Use AI and digital tools to address evidence gaps213Tailoring strategies to local contexts233.1Building healthcare system capacity in LMICs243.2Maximizing impact in high-income countries26Conclusion28Contributors30Endnotes32 Disclaimer This document is published by theWorld Economic Forum as a contributionto a project, insight area or interaction.The findings, interpretations andconclusions expressed herein are a resultof a collaborative process facilitated andendorsed by the World Economic Forumbut whose results do not necessarilyrepresent the views of the World EconomicForum, nor the entirety of its Members,Partners or other stakeholders.©2026 World Economic Forum. All rightsreserved. No part of this publication maybe reproduced or transmitted in any formor by any means, including photocopyingand recording, or by any informationstorage and retrieval system. Making Rare Diseases Count:How Better Data Can Unlock aMultitrillion-Dollar Opportunity February 2026 Foreword Shyam BishenHead, Centre for Health andHealthcare; Member of theExecutive Committee, WorldEconomic Forum Elizabeth HampsonUK Life Sciences and HealthInnovation Partner, Deloitte Soraya Bekkali Senior Vice-President, Europe,Canada and International, Alexion,AstraZeneca Rare Disease Rare diseases are one of the largest areas ofunmet need in global health. While individuallyuncommon, they collectively affect more than300 million patients around the world. When familiesand caregivers are included, the circle of directimpact expands to more than 1 billion people,¹resulting in immense human and economic costsacross societies. By some estimates, the totalglobal cost exceeds $7 trillion each year.² The benefits extend to other stakeholders, too. Raredisease investments reduce pressure on healthsystems, enhance workforce productivity, improvethe efficiency of insurance systems and strengthenfiscal sustainability for governments. The challengenow is to make these gains visible, measurable andreplicable across societies. Better data is the foundation that makes thispossible. Data illuminates unmet needs, guidesinvestment and enables collaboration acrosssectors and borders. When used responsibly, datahelps turn a multitrillion-dollar challenge into ashared opportunity for innovation and impact. Yet the story of rare diseases is also one ofextraordinary progress. The innovations incubatedin this space – from diagnostic platforms toadvanced therapeutic modalities, digital healthtools and data-driven care models – have not onlydelivered life-changing solutions for people livingwith rare conditions but also underpinned scientificinsights and healthcare innovations that havetransformed medicine itself. This paper offers a roadmap for achieving this: fivestrategies to strengthen rare disease data systemsworldwide and unlock the full potential of theseconditions to drive progress for all. Executive summary Investment in rare disease datasystems will benefit society and theeconomy, drive medical progress andimprove the health and life outcomesof more than 300 million people. Investment in rare diseases represents a multitrillion-dollar opportunity to improve lives, strengtheneconomies and advance science. However, around95% of rare diseases have no treatment authorizedby a major regulatory agency, leaving most patientswithout effective treatment and so placing a heavyburden on families and caregivers. –Improve newborn screening and diagnosticcapacityto enable earlier detection, betterprevalence estimates and more efficient care –Enable trusted data sharing across healthsystemsby aligning standards, governanceand safeguards to make data more usable whileprotecting privacy This paper explores the case for greater societalinvestment in rare diseases and the central roleof data in assessing need, measuring impact andenabling progress. These investments generateimpact across three key dimensions: –Use AI and digital tools to address evidencegaps, turning scattered information intostructured, actionable insights These strategies are broadly applicable acrosshealthcare systems, although implementation willvary based on socioeconomic and cultural factors.In all contexts, success depends on tailoring theroadmap to local realities while ensuring alignmentwith int