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Dr. Robert Hegele is shown in this 1998 photo. (Tibor Kolley/The Globe and Mail)
Dr. Robert Hegele is shown in this 1998 photo. (Tibor Kolley/The Globe and Mail)

How the diabetes-linked 'thrifty gene' triumphed with prejudice over proof Add to ...

Biological anthropologist Emöke Szathmàry, a former president of the University of Manitoba, says the popularity of the thrifty-gene hypothesis "has always amazed me." She studied the Dogrib people of the Northwest Territories in the 1980s, and found it hard to believe they had evolved a gene that stored extra calories from carbohydrates when their traditional diet was mostly protein - fish, moose and caribou. Given the sub-Arctic's two-month growing season, their bodies would have required every bit of glucose when and if they got it.

But raising such critical questions made her "a voice in the wilderness," she says. "Anthropology papers are not necessary reading for those who read the medical literature."

To her, the thrifty gene reflects, to some extent, "the old 15th-century view that, if you see one American Indian, you've seen them all. ... What I didn't understand is why public-health agencies glommed onto it - that was nuts."

Dr. Szathmàry suspects that because it was regarded as "settled science," the theory may have compromised efforts to investigate other causes of the diabetes epidemic.

Dr. Reading agrees. "Lots of research grants have been funded hunting for the thrifty gene." Yet, despite eight years spent compiling ethics guidelines for conducting research in aboriginal communities and three requests for a long-term study of native children, nothing has been approved.

"It's a curious omission," he says, "since here's a population, with the poorest health, that could benefit most from it."

At least the alarm was raised

Twice before he died in 2000, Dr. Neel refined his thrifty-gene hypothesis as evidence grew to challenge it. But in the end, he still saw it as viable, as many researchers still do. Dr. Harris, who first sounded the alarm at Sandy Lake, is one who keeps the faith - "even though we don't have the genes."

Mount Sinai's Dr. Zinman says it has "been a disappointment" that the genetic story is not simple. "At the end of the day, it's wrong to say there is a thrifty gene, but maybe there will be a thrifty genotype" - a collection of genetic traits that contribute to type 2 diabetes.

He disagrees that this "stigmatizes" anyone, as the thrifty gene would have been a positive, protective trait if it existed. "You have to be careful not to confuse the science with the politics."

For now, it's clear that "the environment trumps your genetic susceptibility and in certain environments the risk is greater."

Dr. Harris, now a professor of family medicine and epidemiology at Western's Schulich School of Medicine and Dentistry, is calling for even more community and clinical-care programs to help solve the problem. His latest studies of Canada's aboriginal people paint a bleak picture - with more and younger children being diagnosed with diabetes and 18 times more end-stage kidney failure than the general population.

Mr. Meekis, the former deputy chief, was diagnosed with diabetes two years ago, but reports that he hopes Sandy lake will be a success story. The community programs the research helped to launch continue. A covered arena has sprung up, along with two new schools with athletic facilities, and the kids, Dr. Harris says, play broomball and hockey, and go to a diabetes camp where they learn about nutrition.

Fresh produce is still flown in, but few residents can afford it, and fast-food outlets have moved into the region. Is progress being made? Dr. Harris hoped to conduct another study last year to learn if two decades of effort have paid off, but could get no funding. He plans to try again this year.

Either way, he says, the Sandy Lake story "played a key role in prompting the government to pay attention to the problem." He is certain it spurred Ottawa's multimillion-dollar national campaign to educate native people about the disease.

This summer marks the 20th anniversary of the researchers' collaboration with Sandy Lake, which plans to mark the occasion with "a celebratory feast."

Carolyn Abraham is The Globe and Mail's medical reporter.

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