Perspectives are commissioned from an expert and discuss the clinical practice or public health implications of a published study. The original publication must be freely available online.
Affiliations Bioinformatics Institute (BII), Agency for Science, Technology and Research (A*STAR), Singapore, Singapore, Maternal and Child Health Research Institute, KK Women’s and Children’s Hospital, Singapore, Singapore, Genetics Service, KK Women’s and Children’s Hospital, Singapore, Singapore, SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore, Duke-NUS School of Medicine, Singapore, Singapore Affiliation Rare Care Centre, Perth Children’s Hospital, Perth, Western Australia, Australia Affiliations Genetics Service, KK Women’s and Children’s Hospital, Singapore, Singapore, SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Singapore, SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Singapore Artificial intelligence (AI) can transform rare disease care when organized around the patient journey. We outline a patient–clinician–AI triad spanning early detection, diagnosis, clinical trials, and individualized therapies.
Citation: Groza T, Baynam G, Jamuar SS (2026) Reimagining care of people living with rare diseases with artificial intelligence. PLoS Med 23(2): e1004966.
https://doi.org/10.1371/journal.pmed.1004966 Copyright: © 2026 Groza et al.
PLOS Medicine published a clinical update in Research Highlights on 26 Feb 2026.
The item focuses on Reimagining care of people living with rare diseases with artificial intelligence.
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