Using AI to help physicians diagnose rare genetic diseases affecting children

Researchers used an OpenAI reasoning model to identify 18 new diagnoses in previously unsolved cases of rare childhood genetic diseases, suggesting a meaningful clinical role for AI in complex diagnostic workflows. The work is careful to frame AI as augmenting physician judgment rather than replacing it, which is the right framing. If the results hold under broader scrutiny, this is one of the more credible demonstrations of AI delivering concrete medical benefit.