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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)
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)

Would you want to know the genetic road map of your child? Add to ...

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.

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