Potential of rapid whole-genome sequencing in critically ill infants

A study published in The Lancet Respiratory Medicine and presented at the annual Pediatric Academic Societies Meeting revealed the early results of the clinical usefulness of rapid whole-genome sequencing in neonatal and pediatric intensive care units (NICUs and PICUs).

Children's Mercy Kansas City's STAT-Seq test helped diagnose a genetic disease in more than one half of 35 critically ill infants tested, compared to just nine percent with standard genetic tests.

As a result of receiving a specific disease diagnosis, clinical care was refined in 62 percent of infants, including 19 percent who had a markedly favorable change in treatment, and palliative care was initiated in 33 percent. Lead authors of the study were Laurel Willig, MD, Josh Petrikin, MD, and Stephen Kingsmore, MB, ChB, BAO, DSc, FRCPath, of Children's Mercy Kansas City.