Medical Xpress October 18, 2023
Today, nearly 900 disorders caused by a single gene are known to be treatable. Yet the recommended “heel stick” testing for newborns only covers about 60 inherited, treatable disorders, and many individual states screen for fewer. What if newborns could instead have their entire genome sequenced at birth, with the results shared and acted on as appropriate?
That was the premise behind the original BabySeq study. That study ran from 2013 to 2019 at the NICU and other ICUs at Boston Children’s Hospital, and at the well-baby unit at Brigham and Women’s Hospital. Of 159 newborns whose families opted to participate, 11% had unanticipated genetic variants associated with disease. All findings were medically actionable, meaning that the child could benefit...
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