A program that maps out the genes of newborns has allowed researchers to identify risks for some inherited childhood conditions, many of which can be prevented.
The so-called BabySeq Project discovered that slightly more than 9 percent of infants carry genes that put them at risk for medical conditions as they reach childhood.
"The BabySeq Project is the first randomized trial of sequencing in newborns and the first study to fully examine the wealth of unanticipated genetic risk information in children," said Dr. Robert Green, co-director of the study and a professor at Harvard Medical School.
"We were stunned by the number of babies with unanticipated genetic findings that could lead to disease prevention in the future," he said in a news release from Boston's Brigham and Women's Hospital.
DNA sequencing can identify risks for a wide range of disorders that may not be detected otherwise, the study authors noted. Finding these mutations early may lead to helping newborns live better lives and ease the worries of their families.
For the study, Green and his colleagues randomly assigned 128 healthy newborns and 31 ill infants to have their DNA sequenced.
Among all the babies, 9.4 percent had a gene mutation that increased the risk of a disorder that arises or is manageable during childhood, or a mutation that conferred a moderate risk for a condition for which treatment during childhood might prevent devastating outcomes later in life.
Mutations included those linked to several heart conditions that affect how the heart functions, according to the report. These conditions can be monitored, and families have been referred to cardiac specialists.
One newborn had a risk for biotin deficiency, which can lead to skin rash, hair loss and seizures. That child's diet is now being supplemented with biotin, which should prevent any symptoms, the researchers said.
Senior study author Alan Beggs explained that "sequencing results have potential to raise questions that may be upsetting for parents, but could also lead to helpful or even lifesaving interventions." Beggs is director of The Manton Center of Orphan Disease Research at Boston Children's Hospital.
"Only time will tell how the costs -- both financial and in terms of extra medical testing and family stress -- balance out against the benefits. That's what we're really trying to find out," he said.
The researchers also offered parents information about their child's risk for adult-onset conditions. Three of 85 infants whose parents agreed to receive this information had these types of gene mutations. These variants were also found in the mothers of the three children.
Green said, "Disclosing genetic risk for adult-onset conditions in children has been discouraged in traditional genetics in order to protect the child's 'right not to know,' but our results demonstrate that many parents want access to this information about their child."
He added that the "findings suggest that thoroughly sequencing newborns reveals potentially lifesaving information in both infants and their parents far more commonly than was previously thought, and should encourage our entire field to re-evaluate the value of comprehensively analyzing and disclosing genomic information at any age."
The report was published Jan. 3 in the American Journal of Human Genetics.
For more on genetic sequencing, visit the U.S. National Institutes of Health.
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