Genome testing

Days, weeks, months and even years can pass between the observation of a seriously sick child and the identification of a rare disease as the cause.  Often, the diagnosis comes too late to save the patient.  But at Rady Children’s Institute of Genomic Medicine (San Diego, CA), researchers have used rapid whole genome sequencing and artificial intelligence for a highly accurate diagnosis in less than one day.  “Rady Children’s Institute began performing genomic sequencing in July 2016. As of the end of March 2019, the team had completed testing and interpretation of the genomes of more than 750 children. One-third of those children have received a genetic diagnosis with 25 percent of those benefitting from an immediate change in clinical care based on their diagnosis.”  MORE

Image Credit:  Kessler.af.mil