Most parents, regardless of their demographic background, are keen to have genome sequencing for their newborns that can provide valuable personalised health information and help diagnose an array of disorders, a new US study has found.
The study, led by researchers at Brigham and Women's Hospital (BWH) and Boston Children's Hospital, found that the majority of parents surveyed were interested in newborn genomic testing.
As next-generation whole-exome and genome sequencing is integrated into clinical practice, researchers and clinicians are increasingly interested in genomic testing as a way to provide valuable personalised health information for newborns beyond what existing standard newborn genetic screening produces.
But such testing, done shortly after birth, will require the interest and consent of new parents.
"Several other studies have measured parents' interest in newborn genomic screening, but none focused on new parents in the first 48 hours," said Robert C Green, a geneticist and researcher at BWH and Harvard Medical School and senior author of the study.
The researchers surveyed 514 parents at the well baby nursery at BWH within 48 hours of their child's birth. After receiving a brief orientation to the genome and its impacts on human health, 82.7 per cent of parents reported being somewhat (36 per cent), very, (28 per cent) or extremely (18 per cent) interested in newborn genomic testing.
Results were similar regardless of parents' age, gender, race, ethnicity, level of education, family history of genetic disease, or whether or not the infant was a first-born child.
Parents who had experienced concerns about the health of their newborn, however, were less likely to be interested in genomic testing.
The study was also the first to survey parents separately. Most couples were in agreement about their level of interest in newborn genomic testing.
"About 75 per cent of couples were in concordance. This suggests that both parents should be involved when we are addressing concerns they may have about newborn genomic testing," Waisbren said.
The study was published in the journal Genetics in Medicine.
