AI-based platform quickly detects genetic diseases 

Researchers at the Rady Children’s Institute for Genomic Medicine and elsewhere report they’ve found a way to quickly and effectively diagnose children with serious genetic diseases. Using machine learning and natural language processing, scientists combed through electronic health records and data from genome sequencing tests of 95 children who had together been diagnosed with 97 diseases. Compared to human experts — who diagnosed 95 of the 97 diseases — the platform was able to identify 94 of the 97 diagnoses. Genetic disease in three children in the ICU were also identified in real time. The platform, which is still in development, made its diagnoses in about 20 hours, whereas in clinical practice such diagnoses usually take 37 hours. The authors write that “a faster time to result is critical for optimal outcomes.”