Using AI to help physicians diagnose rare genetic diseases affecting children
OpenAI
Researchers used the OpenAI o3 reasoning model to help identify diagnoses for 18 previously unsolved rare pediatric genetic cases.Summary
Researchers from Boston Children’s Hospital, Harvard, and OpenAI utilized the OpenAI o3 Deep Research model to reanalyze 376 unresolved pediatric cases of rare diseases. By integrating fragmented clinical data and evolving scientific literature into testable hypotheses, the model enabled experts to identify diagnostic leads. Following clinical confirmation, 18 cases were successfully diagnosed, representing a 4.8% diagnostic yield. The study emphasizes that AI acts as an assistant to human experts, helping them revisit complex cases as scientific knowledge advances, rather than making independent medical decisions.
(Source：OpenAI)