All About Babies

Can Genome Sequencing Save Your Baby's Life?

genome-sequencing
If there's anything new parents are hungry for -- besides sleep -- it's reassurance that their baby is healthy. That the crying, sleep patterns, and mystery poop diapers are all perfectly normal. Thanks to advances in technology, we now have all sorts of sources of information, from an app that can help detect jaundice to "smart" diapers that analyze urine for signs of dehydration or infection to a wearable baby monitor that track sleep movements.

So is it any wonder that a growing number of new moms and dads have expressed interest in what's happening with their newborn on a genetic level? According to a new study led by researchers at Brigham and Women's Hospital and Boston's Children's Hospital, the majority of parents surveyed expressed some interest in having their baby's genome sequenced, once they learned about genes and the role they play in baby's health. During genomic testing, all 20,000 or so genes are sequenced and any variations -- some of which could lead to disease -- are identified.

Of the 514 parents surveyed within two days of their child's birth, 82.7 percent said they had some level of interest in testing; 36 percent were somewhat interested; 28 percent were very interested; and 18 percent were extremely interested. The early adopters were of differing age, race, ethnicity, level of education, gender, and family medical history. The parents who were less likely to sign up for screening were typically married and already had health concerns about their baby.

"Several other studies have measured parents' interest in newborn genomic screening, but none focused on new parents in the first 48 hours," explained Robert C. Green, geneticist and researcher at Brigham and Women's Hospital and Harvard Medical school, and the study's senior author. "Since this is when genomic testing would be of the greatest value, it is especially important to study parents' attitudes immediately postpartum." This, of course, makes perfect sense. I don't know about you, but my husband and I felt completely overwhelmed in the first days after our son was born. If someone asked us if we wanted to find out if he had genetic variations that could lead to diseases like Type 1 diabetes, Alzheimer's, or prostate cancer, I'm fairly certain we would have jumped on board, too.

Three and half years later, though, and I'm not so sure I'd be as eager to know. Though it's a truly remarkable advancement, genetic sequencing is hardly perfect. The information it yields isn't always accurate, and it can only predict with some degree of certainty whether your particular variation will lead to certain diseases. Meanwhile, the jury is still out at the FDA over whether screening is even worthwhile. But even if I could bank on the information from a screening, how much would my son benefit from knowing early on that, say, he's genetically predisposed to Alzheimers? Would he read too much into a momentary memory lapse as he gets older or fret any time he takes a little longer to balance his checkbook?

I know that genetic screening can be a blessing for a number of families. It can and has already saved the lives of many children who have an unknown disorder or brain abnormality, by helping doctors either come up with a new diagnosis or choose a different treatment altogether. While genome sequencing has been consistently useful when it comes to solving postnatal health issues -- and it could have a major positive impact on public health -- I think more guidelines and support for parents are needed before screening goes mainstream.

Tell us: Would you want to have your baby undergo genome sequencing? Why or why not?

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