New Constellations 2019 | Page 32

NEONATOLOGY EVERY 1,300+ Neonates treated per year #4 Department of Neonatology as ranked by U.S. News & World Report 1 of 11 Centers worldwide recognized at the platinum level from the Extracorporeal Life Support Organization LEADERSHIP: Randall Wilkening, MD Chief, Neonatology, The Lenore T. Stoddart- La Cache Endowed Chair in Neonatology For neonatology healthcare professional resources, visit childrenscolorado.org/NeonateHCP. LETTER OF THE GENOME The first whole genome sequencing took 15 years. For a growing number of centers around the country, that timetable is down to less than a week. That’s good news for some of the hospital’s sickest neonates. About 20 percent of the newborns admitted to Children’s Hospital Colorado’s Neonatal Intensive Care Unit have no diagnosis to explain their need for intensive care. That’s not unusual for a Level IV NICU, especially not at a regional treatment hub for the rarest and highest-risk conditions. But for many of those infants, every hour is crucial. “In the past we’ve looked at chromosomes under the microscope or maybe sent a panel of genes for testing,” says geneticist Austin Larson, MD. “But those can take a couple of weeks to get back.” “And sometimes you don’t find anything,” says neonatologist Cassidy Delaney, MD. “Then you go back to the drawing board.” For a newborn with, say, rapidly progressing organ failure, the drawing board could be deadly. By the time another panel goes out and comes back, it might be too late. “Now we’re going all the way,” says Dr. Larson. “We’re looking at every single letter of the genome.” At around 3 billion base pairs, a whole genome represents a daunting amount of information. The first successful sequencing, the Human 30 NEW CONSTELLATIONS 31