If you could learn your baby’s inherited traits and predisposition to disease, would you want to know? The Dec. 29 Boston Globe reports that decoding the human genome, the complete set of genetic information that is stored in DNA sequences, is coming to the newborn nursery.
With the rapid advances in sequencing technology, healthcare professionals see DNA analysis as a way to not only determine rare conditions, but to also dig deeper into a child’s health. However, while researchers eagerly anticipate the ability to consult a child’s “book of life” to determine health issues over a lifetime, some doctors worry that the information could lead to issues with medical insurance and other biases in the future. In addition, there is considerable concern about the effect the information could have on family relationships.
To determine how sequencing can be used in infancy as well as its impact on family dynamics and parent-child bonding, the National Institutes of Health (NIH) sought pilot projects that would provide evidence on how to best use this diagnostic tool.
”Are we going to get more bang for the buck if we use this extra technology?” asked Tina Urv, program director at the National Institute of Child Health and Human Development, in the Boston Globe.
“If you’re screening a child at a young age, you might be identifying conditions that don’t manifest until they’re much older. What do you do with that information? That’s why we want to set up pilot programs,” added Urv.
To examine the repercussions of such testing, Alan Beggs, PhD, director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital, joined forces with Robert Green, MD, a geneticist at Boston’s Brigham and Women’s Hospital, to design a trial that would measure the benefits and risks of newborn sequencing.
In their proposed randomized trial, half of the infants in the study would have their DNA sequenced and half would not. Researchers would track how the information influenced the baby’s health and treatments and whether it altered family relationships, caused parents excessive worry, or led to more trips to the pediatrician. They proposed disclosing only information that would be relevant to the child’s immediate health and not risks that might lie decades away.
Brigham and Women’s Hospital has already seeded a version of the proposal. Called BabySeq, the study was granted $100,000 and the NIH plans to review their proposal along with others early next year to decide recipients of additional funding.
There is no denying that the technology to break down the human genome has transformed medical care in recent years. DNA profiles of tumors now refine cancer diagnoses and treatments and help identify the source of rare inherited diseases. At Boston Children’s Hospital, patients’ genomes are being used to find such diseases. So far, 60 children with suspected genetic conditions have been sequenced and nine disease-causing genes have been identified.
Still, even Alan Beggs, BabySeq’s co-author, has some reservations.
“The exact same technology, the ability to sequence the genome, can obviously be used to learn about the makeup of all of us, not just the rare patient with a rare disease,” said Beggs. “There are significant potential risks, and I say potential because I think nobody really knows….I think it’s a little bit like the genie in the bottle, and it’s coming out of the bottle right now.”