Children's Hospital of Eastern Ontario

AI Models Accelerate Rare Disease Diagnosis at Boston Children's and CHEO

- AI initiatives at Boston Children's Hospital and Children's Hospital of Eastern Ontario are helping to diagnose rare diseases by analyzing clinical and genomic data. - CHEO's ThinkRare algorithm scans electronic health records and has led to 21 new rare disease diagnoses with a 70% success rate so far. - Boston Children's Hospital's reasoning model reviews unsolved cases and suggests disease candidates, significantly speeding up the diagnostic process. - Researchers caution that clinicians must guard against errors produced by these models, but further validation could transform rare disease care.