AI helps Boston Children’s Hospital diagnose rare diseases in kids

Researchers from Boston Children’s Hospital identified 18 diagnoses for children with rare diseases using OpenAI’s o3 model.

Over a thousand children visit Boston Children’s Hospital every day. Many get clear diagnoses and begin treatment, but a small subset of pediatric visitors with rare illnesses never get diagnoses at all. That has started to change with the help of AI.

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New research from the hospital’s center for rare diseases and the AI company OpenAI reveals that off-the-shelf AI tools can help identify which errors in patients’ genomes might be causing the children’s diseases.

The findings, announced Thursday in the New England Journal of Medicine’s AI-focused publication, NEJM AI, show that OpenAI’s o3 model helped clarify 18 diagnoses for children who had struggled to find causes for their illnesses and symptoms.