CAROLYN ABRAHAM
From Wednesday's Globe and Mail Published on Wednesday, Jan. 23, 2008 4:58AM EST Last updated on Monday, Mar. 30, 2009 2:47PM EDT
A California company is offering Canadians a chance to delve into the secrets of their DNA - to learn about their ancestry, their susceptibility to certain diseases, and what their genes might reveal about their behaviour.
The Google-backed genetic-testing firm also hopes to turn its customers, and their genetic information, into study subjects for researchers and pharmaceutical companies.
The co-founders of 23andMe, which began selling its $1,000 genetic scan in Canada this week, said they are in talks with drug firms to figure out how customers can be used as a data pool for research.
Since genome studies typically demand hundreds, if not thousands, of subjects to make reliable connections between DNA and common medical conditions, the company believes its customers could help push genetic research forward.
Linda Avey, a biotechnology executive who started the firm in 2006 with health-care investor Anne Wojcicki, wife of Google co-founder Sergey Brin, said that customers would decide for themselves, perhaps through an online survey, if they would participate, either as someone afflicted with a condition, or as healthy control subjects.
"I think people really want to help other people," Ms. Avey said. "We wouldn't want people to think that pharmaceutical companies have access to this information.
"They would only release information they are comfortable with .. .they could say, 'I think I will take a pass on this one ...' "
As costs to sequence DNA have dropped dramatically in recent years, several direct-to-consumer DNA-testing firms have sprung up, banking on the idea that people will pay to learn what's written in their genetic codes. Many experts criticize the trend, arguing that DNA can now be cheaply read but it is still poorly understood.
Yet no one disputes that scientific progress depends on having huge numbers of people pony up their DNA and personal health information for study. Only this way can researchers tease apart the effects of the multiple genes and environmental factors behind common diseases.
An international consortium of academic scientists announced yesterday, for example, that it intends to recruit 1,000 volunteers from different regions around the world to compile a more detailed map of the genetic variation among people. Earlier this month, Cartagene, a publicly funded project in Quebec began recruiting the first of 20,000 adults to study their lifestyles and genes. The information is to be compared with similar bio-banking projects under way in other countries.
Steve Scherer, a senior scientist at Toronto's Hospital for Sick Children, which is involved in the Autism Genome Project that involves 8,000 people, called the 23andMe plan to pool data for research an "interesting, unusual business model." But he said it might work well only for conditions that can be clearly diagnosed.
Still, Dr. Scherer said that while "the instinctive reaction of many is that the science [of these private testing companies] is suspect," he noted that high-end firms such as 23andMe and Navigenics, another California DNA testing company, use the same testing technology as hospital labs.
"The point is the information that you can get from the tests will only improve as the science advances. ... Personal genomics is here - personalized medicine is still a long way off."
Personalized medicine is based on the idea that health care could be customized to match the genes and lifestyle of individuals.
23andMe has attracted particular attention in the field with backers that include biotech giant Genentech Inc. and Google Inc., which invested $3.9-million (U.S.) in the Mountain View, Calif., startup. As Dr. Scherer put it, researchers "are interested to see how Google will develop a genome browser."
The privately held firm also boasts an advisory board that includes well-respected academic researchers from institutions including Harvard and Stanford universities. Up until this week, its tests - in which DNA is extracted from a mailed-in saliva sample - were sold only in the United States, because the firm hadn't completed arrangements for cross-border shipping of biological specimens.
The company will not reveal how many customers it already has in its database. But the founders said they had already received many e-mails from eager Canadians.
The 23andMe test scans 580,000 mutations across the genome known as single nucleotide polymorphisms - or SNiPs, for short. These SNiPs are akin to single-letter typos that have been linked to particular traits, or conditions to which a person might be predisposed, or from which a person might be protected.
Customers can learn a wide range of information about themselves - such as their possible risks for diabetes, Crohn's disease, or whether they carry the genetic quirk that makes their urine smell after eating asparagus.
Tim Caulfield, director of the Health Law Institute at the University of Alberta, called the site slick and very sophisticated. But he warned generally that "consumers should make sure they know what they're paying for ... the science has not caught up to the marketing."
Ms. Avey and Ms. Wojcicki disputed the idea that consumers are not ready to receive their own genetic information.
"There is a lot of paternalism in the medical communities," Ms. Avey said. She likened it to doctors' onetime concerns that women would be unable to handle the results of home pregnancy tests on their own.
"We're taking great strides to try to be as responsible as possible in translating this information," she said.
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