Here’s what a birth announcement might sound like not long from now:
“Congratulations Mr. and Mrs. Jones,” the doctor might say, “you have a bouncing baby boy, an eight-pound bruiser – he’ll have sticky ear wax, be lactose intolerant, nearsighted, and some day, perhaps, bald. Watch his diet, he’s prone to obesity, though he’s got the muscles for marathons – so long as his heart doesn’t give out. Junior carries a risk gene for cardiomyopathy.”
The prospect of decoding the DNA of a baby at birth – and falling under the mountain of data that comes with it – is no longer a futuristic fantasy. With the ability to read DNA becoming ever faster and cheaper, researchers in Canada and other countries are already experimenting with sequencing the whole genomes of children, and newborns, to see what there is to be gained – or lost – from decoding a life from the start.
Most Canadian projects now under way are aimed primarily at finding the genes behind mysterious childhood disorders that have so far stumped medicine. But in the process, researchers are also eager to explore what happens to children, families and the health system after they open a Pandora’s box of genetic potential and pitfalls.
Any deep dive into the genome can turn up disorders that might be treatable, but also something catastrophic and incurable. It can point to health risks that might not strike for decades, if they strike at all. It can deliver a bloated tally of a child’s possible strengths, and weaknesses, yet most of it only as a crude estimate of probabilities.
Should doctors tell parents everything they find? How will it shape the way a child is raised? Should parents tell their children? And what happens to the child who grows up feeling that his future has already been charted by a genetic road map?
“It’s taking a lot of deliberation from lab scientists, genetic counsellors, doctors and bioethicists to figure this out,” says Cheryl Shuman, director of genetic counselling at Toronto’s Hospital for Sick Children, where new sequencing machines are being installed this fall. “Genes and DNA hold tremendous value for information, but ... we wouldn’t want anyone to think that everything is predetermined. We shouldn’t be reduced to our genes.”
After all, she adds, in the burgeoning field of epigenetics, evidence that our codes can be influenced by our environments – from the womb and beyond – is growing.
Yet despite the caveats, early signs suggest many parents – acclimatized to a culture of information, including prenatal genetic tests that can be performed long before a baby is born – will want to know everything they can.
“Parents tell us that, ‘We want to know everything – tell us when you don’t know what you’ve found, or that you don’t understand what you’ve found. Just tell us,’” says medical geneticist Jan Friedman, acting executive director of the Child and Family Research Institute at BC Children’s Hospital.
This year, Dr. Friedman, a co-leader of FORGE, a national project sequencing the genes of sick children in search of the mutations behind their rare diseases, co-authored a report from focus groups in Vancouver where parents of ailing kids, and those from the general public, argued it was their right to know everything genetic sequencing turns up. Parents said they would “accept the consequences of any potential anxiety or uncertainty.”
“I think we’re a little behind the general public’s views on this,” Dr. Friedman says of the medical community, “But we don’t want to hurt anybody.”
Many parents are already turning to private testing firms for a peek at their kids’ genes. “Gain valuable information about your child’s cognitive, athletic and physical tendencies. Make better decisions that will nurture your child’s genetic potential,” says the website of themakingsofme.com, a mail-order DNA testing firm in Arizona that offers seven gene tests for children for $79.