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Direct-to-consumer genetic testing comes to Canada


Genetic profiles are being offered directly to consumers online for relatively reasonable sums of money.

These websites are not yet widely known to Canadian consumers. 

Doctors and the public need to be educated to better understand what the results of these tests mean. 

E-commerce has exploded over the past decade, and now you can buy everything from laundry detergent to a car with the click of a mouse.

In the past few years, new start up websites aimed at providing detailed health information to consumers through genetic profiling have gotten in the game of e-commerce. The sites are mostly based in the United States but have started to target a Canadian audience. They require a small saliva sample, and in one example (23andMe) promise that their results provide consumers with information about “ancestral origins, risk factors for 95 diseases and predicted responses to drugs – from blood thinners to coffee.”

Is all this information helpful?

What is Direct-to-Consumer Genetic Profiling?

Genetic profiling aims to provide consumers with information about their risk for several diseases.

Websites such as 23andMe, FirstMark ONC, deCODEme and Navigenics provide consumers with this form of genetic testing for around $200. The sites suggest that people will benefit by better understanding their health risks, leading them to better health practices and healthier lifestyles. However, many doctors worry about the relevance of the test results to actual disease risk for patients, as well as challenges for patients in interpreting the results of these tests.

Click here to see a sample of test results from 23andMe.

Would you pay for a genetic screening test?

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Direct to consumer genetic testing sites suggest that they offer consumers information — and that this information should not be used to make diagnoses. These sites do offer referrals to genetic counsellours, at an extra cost, or else ask users to seek additional guidance or help from their primary care doctor.

Some doctors have suggested that  findings from these tests may have a negative impact on the health care system, as patients or their doctors might request additional procedures or treatments at a cost to the public system, even if  the link between genetic results and disease is not well understood.

An American genetics research group published a recent study that assessed the impact of these sites, and the information they provide, on consumers. The study tested whether the genetic profiling information from these sites influenced the psychological, behavioral and clinical wellbeing of 2000 people who took the tests.  Overall, the study found no effect on the psychological health, diet, activity level or use of screening tests by those who had received genetic profiling information. The researchers were skeptical about the health benefits of genetic profiling.

Going beyond conventional screening approaches

Genetic testing is an important form of screening for diseases arising from mutations in single genes, like the cystic fibrosis gene associated with lethal lung disease, or the BRCA1/2 genes that dramatically increase the risk of breast and ovarian cancer.  For these diseases there are also evidence-based, aggressive approaches to treatment. Patients often have close relatives (such as a sibling or parent) who might also be affected with the disease, and they too benefit from genetic testing. Right now, Ontario supports genetic testing for screening purposes for those known to be at a higher risk of certain diseases.  When people receive genetic tests within the Ontario health care system they are often referred to a genetic counselor, who is a specialized health care provider who helps patients interpret information about their results and understand how genetics contribute to a disease.

What are Canadians doing?

We spoke with Eric Chan, a naturopathic doctor practicing in Vancouver who uses the website FirstMarkONC as a tool to assess his patients. Chan characterizes the patients who he tests using the FirstMarkONC site as “people who go to their doctor every year for a physical, and are health conscious people looking for everything that they can do” to ensure they maintain good health. Chan did note that a major drawback of these direct to consumer testing sites is fear – because for certain conditions there is little or nothing that people can do to prevent or treat the illness. Furthermore, unlike the genetic tests that are publicly funded — like the cystic fibrosis test — the direct-to-consumer tests are usually not definitive enough for prenatal or preconception testing. Chan does note that genetic test findings can lead to patients following up with him for additional tests and procedures, or with their family doctor. Of course, this results in additional costs — either to the patients, if they see Dr. Chan again, or to the publicly funded health care system, if the patients follow up with their family doctor.

Dr. June Carroll, a family doctor and researcher at Mount Sinai Hospital in Toronto notes that “many Canadians aren’t yet aware of direct to consumer genetic testing”. Whether on-line genetic testing will have a spillover effect, where private dollars end up pushing some patients towards seeking out additional investigations and diagnostic services through the public system is “the big question” according to Carroll.

Only time will tell how many of us pursue these tests, and how we react to the results.

Should the public purse be charged with follow-up to privately-paid genomic scans that show an elevate risk of disease?

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This article has been closed to comments. 5 comments

  1. Mike Spear

    Canada is certainly lagging behind the U.S. in the adoption of direct-to-consumer genetics testing and the policy issues are also not being addressed in the same way as south of the border. However you’d be surprised how much uptake there is here.
    I’ve had tests done by 23andMe, deCode,Navigenics, and the DNA Ancestry Project as an outreach tool for our organization and out of curiosity. I posted the first results online back in 2008 at http://www.genomealberta.ca/PersonalGenotyping/default.aspx and have come across a growing number of Canadians within the online communities maintained by these companies.
    It has been the subject of a couple of conferences here and I often speak about the experience so i know the interest is out there.
    The Navigenics test I had done was through the MedCan Clinic in Toronto which offers the test, a genetic counsellor and follow-up so they at least ensure the consumer understands the results.
    It is an emerging are of interest and many of the consumers I come across are surprisingly well informed but I agree that doctors and the public need to up their knowledge level.

    • andreas

      thanks mike. dumb question, but why do you post the results of your genetic tests on the web?

  2. Tom Auger

    The article is definitely interesting – thanks for bringing it to the debate. I would have like to have a little more depth to the article, personally (hence my rating).

    I personally am extremely troubled by any trend which could lead to a partisan, authoritarian body gaining access to a database of non-anonymous characterizing information on members of the public. So maybe genetic testing is inevitable in the long run, but I’m certainly going to vote against the collection of this kind of information for as long as it makes sense to do so.

  3. Kirk Nylen

    These sorts of genetic assays have been used in science labs across the country for well over a decade now – but have only recently become affordable enough to use at a population level. An important question is “what linkages with government need to be made to ensure these things don’t “sneak up” on the healthcare system again?”

    Also, we need to educate people around the predictive ability of these genetic assays – which really only paint a limited picture. Certainly, genotype can have a strong correlation with phenotype – but there are many more variables at play than what meets the eye. Many “things” (likelihood to develop a disease, ability to throw a 9-mph fastball, etc) are mutifactorial and are the product of genes, yes – but also all of the processes involved in reading the genes, transcribing the genes, building the proteins, translocating the proteins, etc. These epigenetic factors are important to consider in conjunction with the gene sequences themselves, and is one of the pitfalls of these direct-to-consumer assays (as far as I can tell these assays to not assess epigenetic factors). In other words, it don’t matter how accurate your bread recipe is if you spill half the flour on the floor and are out of eggs!

  4. Ann Marie

    Having recently watched the movie “gattaca” – where uma thurman swipes the dna of a potential partner for analysis prior to dating him – I can’t help but wonder how this unregulated industry will evolve in the coming years.

    Should these sites require some proof that you are who you say you are when providing a saliva sample for analysis? After a quick peak at the 23andme website, it looks like I could easily send off saliva for my partner, my kids, my employees… without their knowing (if I got really creative re: saliva collection, and lied a bit when making the account). Or, with their consent, if I was a life insurance provider and required it as part of an application.

    How might the insurance and other industries use this information in the future? The 23andme ‘terms of service’ state that “While the Genetic Information Nondiscrimination Act was signed into law in the United States in 2008, its protection against discrimination by employers and health insurance companies for employment and coverage issues has not been clearly established. In addition, GINA does not cover life or disability insurance providers. ” Yikes.

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