Newborn DNA Sequencing – Should it become part of every baby’s future?

October 25, 2016 Brigham and Women's Hospital

The BabySeq Project, a Boston-based study led by researchers at Brigham and Women’s Hospital and Boston Children’s Hospital, is exploring the impact of genomic sequencing on newborn infants and their families.

Will future routine newborn wellness screening include sequencing of the baby’s genome? Researchers at Brigham and Women’s Hospital (BWH) and Boston Children’s Hospital (BCH) are leading a study to determine if knowing the results of a newborn’s genetic sequencing is beneficial to the health and wellbeing of babies and their families. Early findings of the BabySeq Project, a Boston-based study exploring the impact of genomic sequencing on newborn infants and their families, were released last week at the American Society of Human Genetics (ASHG) Annual Meeting in Vancouver.

“We have made some very interesting – and in some cases surprising – observations to date,” said Dr. Robert Green, a medical geneticist in the Division of Genetics at BWH and co-leader of the BabySeq Project.

To date, the study has enrolled more than 150 families with infants from the neonatal intensive care units (NICUs) at BWH and BCH and the well-baby nursery at Brigham and Women’s Hospital and enrollment is ongoing. The babies in half of these families received whole-exome sequencing (WES), including analysis of about 7,000 genes, as well as follow-up counseling. Genetic counselors return only those results for genes strongly implicated in childhood-onset illnesses or clinically actionable in childhood, meaning that an intervention might change a baby’s risk. The families completed surveys at enrollment, after receiving their sequencing results, three months after sequencing, and ten months after sequencing. The other half of the families received the current standard newborn screenings.

The researchers have reported WES results to 51 of the families enrolled in the study, identifying potentially harmful genetic variants in a handful of families. One case involved mutations linked with an enzyme deficiency, where the baby will likely receive nutritional supplementation as a precaution. In another three cases, WES revealed variants linked with heart complications in infants with no family history of genetic disease. Those infants have received follow-up evaluations, including echocardiograms and EKGs. But it’s not yet known how much this knowledge will affect families’ medical choices and outcomes for the infants.

“While it will take many years of follow-up to determine the ultimate benefits and harms, we are already learning a tremendous amount about creating the process for returning genomic information in newborns, parental hopes and concerns, and the kinds of results that are emerging,” said Dr. Green. “Parents have indicated concerns about receiving unfavorable or uncertain results, insurance discrimination, and confidentiality and privacy. These all reflect societal attitudes about genetic testing that are likely to impact implementation of newborn DNA sequencing in many clinical settings.”

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