Abstract
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Looking to spread the success it has achieved in fast genomic screening of severely ill newborns, Rady Children’s Hospital–San Diego is using $2 million from Medi-Cal to launch Project Baby Bear, a pilot project with four California hospitals to offer rapid whole genome sequencing (WGS) for critically ill newborns.
Since 2016, the hospital—under the guidance of Stephen Kingsmore, M.D.—has sequenced nearly 1,200 children. More than one-third (34%”) received a genomic diagnosis enabling physicians to make life-changing adjustments in care for 70% of those diagnosed.
“Here at Rady Children’s, we’ve seen that using whole-genome sequencing to diagnose and guide the care of babies hospitalized with rare diseases is reducing suffering and infant mortality, decreasing hospital stays, and healthcare costs,” said Kingsmore, president and CEO of Rady Children’s Institute for Genomic Medicine. “It’s our belief that rapid whole-genome sequencing should become a first-line diagnostic test and standard of care in neonatal intensive care units everywhere.”