Researchers who lead the world’s first comprehensive sequencing program for newborn infants have published the next chapter in the ongoing study of the BabySeq Project, with new findings on infants and families who have been followed for 3-5 years. In a study published today in the American Journal of Human Genetics, researchers from Mass General Brigham and Boston Children’s Hospital reported that over 10 percent of the first 159 infants to undergo screening through DNA sequencing were discovered to have unanticipated mutations in disease-associated genes, all of which were medically actionable, meaning that the child would likely benefit from early treatment or surveillance. When their families were followed over the next five years, these findings prompted genetic testing, specialty consultations and even procedures among infants’ at-risk family members. Most striking, the at-risk mothers of three infants identified with previously unrecognized elevated risk for adult-onset cancer chose to undertake risk-reducing surgeries.
