Realising the potential impact of artificial intelligence for rare diseases – A framework
Tudor Groza,
Chun-Hung Chan,
David A. Pearce,
Gareth Baynam
Affiliations
Tudor Groza
Rare Care Centre, Perth Children’s Hospital, Nedlands, WA 6009, Australia; Bioinformatics Institute, Agency for Science, Technology and Research (A⁎STAR), 30 Biopolis Street #07-01 Matrix, Singapore 138671, Singapore; Telethon Kids Institute, 15 Hospital Avenue, Nedlands, WA 6009, Australia; SingHealth Duke-NUS Institute of Precision Medicine, 5 Hospital Drive Level 9, Singapore 169609, Singapore; School of Electrical Engineering, Computing and Mathematical Sciences, Curtin University, Kent St, Bentley, WA 6102, Australia
Chun-Hung Chan
Sanford Research, Sioux Falls, SD 57104, USA
David A. Pearce
Sanford Research, Sioux Falls, SD 57104, USA; Sanford School of Medicine, University of South Dakota, Sioux Falls, South Dakota 57105, USA
Gareth Baynam
Rare Care Centre, Perth Children’s Hospital, Nedlands, WA 6009, Australia; Telethon Kids Institute, 15 Hospital Avenue, Nedlands, WA 6009, Australia; Western Australian Register of Developmental Anomalies, King Edward Memorial Hospital, 374 Bagot Road, Subiaco, WA 6008, Australia; Faculty of Health and Medical Sciences, University of Western Australia, 35 Stirling Hwy, Crawley, WA 6009, Australia; Corresponding author at: Rare Care Centre, Perth Children’s Hospital, Nedlands, WA 6009, Australia.
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.
