Key points:
- A project to sequence newborn DNA has led to medically actionable information for infants and at-risk family members.
- Ten percent of 159 infants who underwent DNA screening had unanticipated mutations.
- The mothers of three of the infants with an elevated genetic risk for cancer underwent risk-reducing surgeries.
In a study published Monday, 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.
The encouraging results are part of the ongoing BabySeq Project, the world’s first comprehensive sequencing program for newborn infants. After birth, the infants were followed for 3 to 5 years.
The 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.
The first phase of the BabySeq Project studied 325 infants and families from nurseries at Brigham and Women’s Hospital, Mass General Brigham and Boston Children’s Hospital between 2013 and 2018. Half of the newborns received genomic sequencing, which looked for variants related to genetic risk for childhood-onset and childhood-actionable conditions, as well as actionable adult-onset conditions.
The sequencing data not only revealed the risk of future disease, but in some cases uncovered hidden conditions that were already present. For example, in one of the healthy newborns enrolled in the study, researchers detected a harmful change in the ELN gene, which can cause supravalvular aortic stenosis, a condition that if untreated, could lead to heart failure. On follow-up testing, a previously unsuspected narrowing of the aorta was detected.
“The results of this study indicate that conducting thorough genetic sequencing of newborns has the potential to significantly improve health outcomes for infants and their families,” said Alan Beggs, Director of The Manton Center for Orphan Disease Research at Boston Children’s Hospital, and co-leader of the BabySeq Project.
In a separate study recently published by BabySeq investigators, a remarkable 88% of rare disease experts agreed that DNA sequencing to screen for treatable childhood disorders should be made available to all newborns.