Wall Street Journal: Genome Sequencing in Babies to Begin as Part of Study
Children's Mercy Hospital reported results of past efforts to sequence sick infants in a paper published this month in the journal Science Translational Medicine. In the study, 100 families with children affected by neurological and developmental disorders had whole genome or exome sequencing. Some of the families had been seeking a diagnosis for their children for years, while others had newborns who were very ill at birth. The analysis found that 45% of the families got a diagnosis using genomic testing. Numbers were even higher for critically ill newborns, with 73% receiving a diagnosis.
Source: The Wall Street Journal