Early results from a pilot program funded by the National Institutes of Health show that fast-acting genetic testing can influence the way doctors care for critically ill infants – even if the diagnosis means moving them to end-of-life care and support.
Researchers at Children’s Mercy Hospitals and Clinics in Kansas City, Missouri, made this discovery in a study released Monday in The Lancet Respiratory Medicine and presented at the annual Pediatric Academic Societies Annual Meeting. They used STAT-Seq, a genetic sequencing technology developed by the hospital’s Center for Pediatric Genomic Medicine that delivers results in 50 hours. This speed is crucial to doctors caring for gravely ill infants, allowing them to alter their approach to care when needed. Before this technology, genetic sequencing took weeks or months.
The majority of parents in the U.S. take their newborns home from the hospital soon after birth, but genetic disorders can put a child through suffering or even result in death while in the neonatal intensive care unit. Taken together, genetic diseases – 4,300 of which are known – are the leading causes of infant mortality in the U.S.
Up to a third of babies in the country who are admitted to a NICU have a genetic disease, and more than 20 percent of infant deaths are the result of genetic illnesses. Recent research has been able to identify disorders in infants more quickly, and researchers hope this understanding will result in better treatments and outcomes.
Infants can face a variety of conditions at birth, some of which are not genetic, says Dr. Laurel Willig, a pediatric nephrologist at Children’s Mercy and a lead author of the study. They could have a jaundice infection, lung disease or seizures. If infants begin to resist typical treatments, that can be a signal to doctors that something genetic may be happening.