Rapid, AI-Powered Genetic Disease Diagnosis for Critically Ill Infants

The researchers at Rady Children’s Institute for Genomic Medicine (RCIGM) are known for working quickly. In February of last year, they broke the Guinness World Record for the fastest diagnosis through whole genome sequencing, with an average of 19 hours. Continuing that work, they have built an automated pipeline to analyze data from electronic health records and genome sequences from dried blood spots to deliver a potential diagnosis for hospitalized, often critically ill, children with suspected genetic diseases. The pipeline required minimal user intervention, increased usability, and shortened time to diagnosis, delivering a provisional finding in a median time of less than 24 hours.