Realising the potential impact of artificial intelligence for rare diseases – A framework

Abstract

Rare diseases (RD) are conditions affecting fewer than 1 in 2000 persons, with over 7000 largely genetic RDs affecting 3.5 %-5.9 % of the global population, or approximately 262.9–446.2 million people. The substantial healthcare burden and costs, such as the $1 trillion annual expense in the USA, highlight the urgent need for improved RD management. The International Rare Diseases Research Consortium (IRDiRC) addresses this need through global collaboration, aiming for timely and accurate diagnosis, development of 1000 new therapies, and methodologies to measure impact by 2027. IRDiRC's initiatives include biannual meetings and workshops, like the AI-focused workshop in October 2023. This identified AI as crucial for advancing RD research and proposed a Framework for AI to enhance the RD patient journey by addressing efficiency and quality of life through modular solutions mapped to critical stages. The Framework integrates diverse data sources to improve diagnosis, treatment, and impact assessment, reflecting a holistic, cross-sector approach. By guiding multi-stakeholder efforts, the Framework aims to harness AI’s potential to significantly improve rare disease care.

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