Rapid exome sequencing in PICU patients with new-onset metabolic or neurological disorders

Effective decision making in the Pediatric Intensive Care Unit relies on quickly ascertaining diagnostic information in order to deliver a tailored clinical response. The utility of rapid genetic testing of critically ill patients has been demonstrated several times, owing to their relatively high diagnostic yield. However the cost and slow turnaround of results have been major barriers in the past to the widespread uptake of this technology in the clinical setting. In this episode, we meet Professor Steve Kernie from Columbia University Irving Medical Center and Morgan Stanley Children's hospital, who conducted a pilot study to assess what impact the use of rapid exome sequencing would have on the length of stay of a subset of children admitted to the Pediatric Intensive Care Unit. Have a listen! Related article: https://www.nature.com/articles/s41390-020-0858-x