A genetic test offered as part of a trial found that outwardly healthy baby Cora had a disease-causing mutation, CBS News reports.
Cora's parents were offered the genetic scan as part of the BabySeq project a day after Cora was born. It found that she has a variant that leads to a partial biotinidase deficiency, which, if untreated, could lead to a drop in intelligence. Cora is now receiving a vitamin treatment, according to CBS News.
Harvard Medical School's Robert Green and Alan Beggs are leading up the BabySeq project, which aims to sequence both healthy newborns and newborns in the NICU to understand the implications of sequencing infants. They've found that many parents demur when asked if they want to take part in the project because of privacy, discrimination, and other concerns, even when initial surveys of parents found them to be interested. Green reported last year that only a sliver of new parents actually signed up for sequencing.
"I always think that more knowledge is power. And so anyone who is wavering, I think even though the results may be scary, I think it's more scary to play the guessing game," Cora's mother, Lauren Stetson, tells CBS News.