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.
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.