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Parents have widespread interest in genome sequencing for newborns, regardless of their demographic background, according to a recent study led by researchers at Brigham and Women’s Hospital and Boston Children’s Hospital. Researchers queried 514 parents within 48 hours of a child’s birth.1
Parents reported being not at all (6.4%), a little (10.9%), somewhat (36.6%), very (28.0%), or extremely (18.1%) interested in genomic testing for their newborns. Surveying parents about genomic sequencing did not prompt rejection of conventional state-mandated newborn screening.
Genetic testing of newborns “holds great promise, but too little is known now to encourage its widespread, routine or universal use,” says Kenneth W. Goodman, PhD, director of the Bioethics Program at University of Miami Miller School of Medicine.
The primary ethical concern is that most parents are unlikely to be aware of all that can be detected that is definitive, and all of the findings of uncertain importance that will be detected, according to Reed E. Pyeritz, MD, PhD, William Smilow Professor of Medicine and professor of Genetics at the University of Pennsylvania’s Perelman School of Medicine in Philadelphia.
“Even if the parents are truly informed, they will then be faced with difficult decisions when a result shows that their child will develop some serious condition late in life,” says Pyeritz. In addition, since many such conditions are autosomal dominant, it is likely that one of the parents actually has the same change but has not yet shown clinical signs of the condition.
There are two major ethical dilemmas if all 30,000 genes in newborns are sequenced, says Charis Eng, MD, PhD, FACP, chair of the Genomic Medicine Institute and director of the Center for Personalized Genetic Healthcare at Cleveland Clinic. “You will find many variants of unknown clinical significance in genes,” she explains.
When new research comes along classifying these variants into pathogenic mutations or completely benign, the question arises as to whose duty is it to find the newborn — who might now be an adult and living in a different country.
Parents should be able to opt out from knowing about mutations in genes that predispose newborns to adult-onset disorders, says Eng, until the newborn becomes an adult and can receive a genetic counseling session. This brings up the question of who should notify the child upon adulthood that there is genetic information he or she may wish to know, that their parents chose not to receive.
Ideally, says Eng, every single variant would be assigned with a clinical outcome, with patients informed how to manage the risk. “Also, the exome would need to be stored somewhere, so that new research can inform the variants in real time and somehow be able to alert their caregiver,” she adds.
“Genetic screening of newborns is a great idea if they are sick and if we do not know why,” says Goodman. However, the generation of large amounts of probabilistic genetic information can fuel “great and unnecessary” anxieties, he cautions.
“More data does not mean more information, and certainly not more knowledge,” says Goodman. “We want to avoid running tests because we can, and then struggle with what to make of the results.”
This is especially problematic when parents are not well-informed about what genetic testing reveals, or what it’s really good for. “We already overtest patients,” says Goodman. “Let’s not add to that unhappy burden without more research on the practical utility of genome sequencing.”