In February 2026, the World Economic Forum published a seminal white paper entitled, Making Rare Diseases Count: How Better Data Can Unlock a Multitrillion-Dollar Opportunity (White Paper).
The White Paper outlines a practical roadmap for improving how data is collected, shared and analysed, and provides policy-ready guidance to help governments, healthcare leaders, employers, investors, payers and the health industry translate the growing recognition of rare diseases into coordinated action.
This work was a global effort including Australian expertise from Rare Voices Australia (RVA) Scientific and Medical Advisory Committee member Clin/Prof Gareth Baynam.
The White Paper highlights compelling statistics emphasising the human, economic, and scientific impact of rare diseases and the importance of data-driven strategies to address them. It also outlines several key data strategies for the path forward, worldwide, many of which align with key priorities in the Australian Government’s National Strategic Action Plan for Rare Diseases, and the Recommendations for a National Approach to Rare Disease Data. These data strategies include:
- Defining and tracking a minimum dataset across countries, via standardised data collection and core metrics.
- Strengthening patient engagement in data collection, through participatory data systems, patient-centred datasets and engaging patients in governance and implementation.
- Improving newborn screening and diagnostic capacity, by expanding screening using next generation sequencing and artificial intelligence (AI) where appropriate.
- Enabling trusted data sharing across health systems, by building secure, federated data systems that connect data across health systems, aligning standards and governance.
- Using AI and digital tools to address evidence gaps, generating, integrating and analysing data while preserving privacy, interoperability and utility.
RVA encourages the rare disease sector to leverage and reference the findings and powerful statistics in the White Paper in their advocacy messaging.
