Tim Caulfield can’t help wonder how different his life might have been if he’d known such things as a child. Growing up, the University of Alberta health-law expert and ethicist loved to run – and he was fast, unbeatable in nearly every school he attended. So the biggest surprise to pop out of his genome, which he recently had scanned at the California-based company 23andMe, is that he lacks quick-twitch muscle fibres. The company report declared him “an unlikely sprinter.” If his parents had been able to test his genes, he says, he may have never pursued the sport.
“Maybe I would have detested the endurance sports I am apparently genetically suited to pursue and done nothing but sat on my posterior,” Prof. Caulfield writes in his recent book, The Cure For Everything. “The biggest problem with parents having the code,” he says, “is over-interpretation.”
Erin George sees it from the perspective of a child. The Toronto woman learned at age 25 that she has retinitis pigmentosa, a genetic condition that would steal her sight. Would she have wanted to know, growing up, that she would lose her vision in adulthood?
“I absolutely would not have wanted to know. Perhaps it would have meant I wore sunglasses more diligently when I was lifeguarding as a teenager,” says Ms. George, who now works for the Foundation Fighting Blindness. “But I wouldn’t have been motivated to develop that skill set … if I had thought it might be useless one day due to impending sight loss.”
Ms. George says there’s about one chance in a million that her 17-month-old daughter, Quinn, has also inherited retinitis pigmentosa. To develop it requires both parents to pass down the mutation, and Ms. George has no idea if her husband is a carrier, and so far, they have opted not to know. “In my darker moments, I worry that I’ve potentially passed this blinding eye disease to my daughter,” she says. But with no effective treatment or cure, Ms. George has put her faith in the future, joining the Foundation’s patient registry that will help connect her to any researcher working on a therapy for her particular mutation.
Despite concerns about the effects of decoding kids’ DNA, few dispute there can be sound medical reasons to sequence the whole genomes of children – and brand-new babies.
About one in 20 newborns end up in intensive care with a mysterious genetic disease. Yet figuring out which disease in time to treat, or save, them, can be a nail-biting struggle that can take weeks, or even months. Scanning a whole genome, quickly and cheaply, as doctors in Kansas City reported this fall, can point to an answer in just a couple of days.
Speed can make all the difference, Dr. Friedman agrees. The FORGE project recently pinpointed the faulty gene behind a rare disorder that had killed two children, 8 and 4, in one family. Only after the gene was identified did doctors realize the children may have been saved by a bone-marrow transplant.
At the new Genome Clinic opening at Sick Kids next year, doctors are launching a research project to sequence the whole genomes of children whose conditions have eluded diagnosis so far. Along with the medical impetus to find an answer, there’s an economic imperative as well.
Provincial governments pay thousands of dollars to sequence just one or two genes in search of a mutation, and regularly ship patients’ DNA to labs in the United States and Europe to perform those tests. Meanwhile, the bill to sequence a whole genome will soon be just a fraction of that. “Once you start scaling up from a dozen genes [to be tested], cost-wise you may as well look at 20,000,” says Stephen Meyn, the Sick Kids geneticist heading up the new clinic and its inaugural project.