STAT June 5, 2023
Ten years ago, clinicians in a handful of hospitals around the United States began sequencing the genomes of apparently healthy babies, seeking to understand how the technology might turn up hidden genetic disorders that aren’t being caught by routine newborn blood testing. New research from one such trial suggests the impact of having that kind of information extends far beyond the baby whose DNA is being decoded.
In a study published Monday in the American Journal of Human Genetics, researchers from Mass General Brigham and Boston Children’s Hospital reported that of the first 159 infants to undergo screening through genomic sequencing, 17 were discovered to have unanticipated mutations in disease-associated genes.
Over the next three to five years, in the...