Erin George and her daughter Quinn, 18 months, are photographed in their Toronto home on Nov 28 2012. Now 36, Erin was diagnosed with Retinitis Pigmentosa when she was 25. The degenerative genetic condition will eventually cause her to lose her eyesight . Legally blind, she can get around ok except at night when she needs to use a white cane.Fred Lum/The Globe and Mail
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.
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.
In the United States, the National Institutes of Health is considering the launch of pilot projects to sequence healthy newborns. In Ontario, the province is aware of the potential savings, Dr. Meyn says, and has been reaching out to the genetics community. Sequencing children's whole genomes, says Dr. Meyn, may not only reveal potentially treatable conditions, but also predict which drugs or treatments might be best for the child: "It may be something to consider doing routinely … to guide health care. We're assuming it's going to be useful. But if you want OHIP to pay for it, you have to prove it."
Some experts warn that cheap DNA sequencing could still amount to a new burden on the health system, as parents, or siblings, rush out for other tests to confirm or investigate a vexing result. As Dr. Meyn says, decoding DNA cheaply is not a problem – it's figuring out what the DNA says and having enough lab expertise to identify a meaningful mutation.
Most health experts agree parents should be told when doctors stumble across a disorder that begins in childhood and can be medically treated. The trickier issue is what to do when sequencing reveals a disease that will not develop until adulthood. One concern, Dr. Meyn says, is that the child's right to decide what he wants to know about his future has been forfeited.
"It could impact their psychological health, affect their career choices, or their reproductive choices," he says. Meanwhile, parents might say, "Oh well, Johnny has this gene, and Sarah doesn't … and it makes him the sick one in the family."
Researchers involved in FORGE, which includes more than a dozen centres across the country, decided they would tell parents only about conditions or disorders that could be "medically actionable," even if they don't appear until adulthood.
At Sick Kids, researchers are still hammering out the details. Ms. Shuman says they recently debated what to do if they found a child carried, say, a breast-cancer-risk gene like BRCA1. Ordinarily, you might not tell the child. But the discovery would reveal that one of the parents must be a carrier – so would researchers have an obligation to tell?
If they didn't and the parent developed cancer, and even died, Ms. Shuman says – "would we be morally responsible in some way, or practically?" since early diagnosis could have resulted in a different outcome.
"These are the kinds of things we sit mulling and mulling," she says.
She suspects they will opt for a consent form that gives parents, and "capable minors" the option to decide, before testing, what they want to know.