CTV Investigates: Genetic Testing

Part 1: Genetic testing gives Waterloo couple health reassurance

Breast cancer runs in Kim Fielding’s family.

Worried that she too could fall victim to the disease, Fielding sought peace of mind from genetic testing.

After visiting MedCan, a private clinic in Toronto, paying $1,600 and spitting into a vial, she learned that she was not genetically predisposed to breast cancer.

It doesn’t mean she’s guaranteed to never contract the disease, but it does mean she doesn’t share the DNA “marker” that often signifies an increased likelihood of it.

“You do sort of feel a bit of relief, even though it’s not a concrete answer,” she tells CTV News.

Breast cancer isn’t the only disease that can be potentially foretold by genetic testing – Alzheimer’s disease and obesity are two others that tests are offered for.

The testing looks for genetic mutations, which may have been inherited from parents or acquired through chance.

However, just having the mutations doesn’t make it definite that you’ll find yourself battling the disease in question.

“It doesn’t necessarily mean you’ll get the disease,” says Dr. Mala Bahl, an oncologist and haematologist at Grand River Hospital in Kitchener.

“Certain gene abnormalities carry with them a risk of cancer, but they’re never a 100 per cent risk.”

Fielding and her husband Andy were tested for the whole range of diseases MedCan offers testing for.

“To actually see that it’s available now, it was pretty neat,” says Andy Fielding.

“It felt like Star Trek a little bit – how can you test this with what we did?”

Andy’s results helped give him a push to stay in control of his health.

“It said here I was diabetic … so I made a conscious decision to reverse that, and I was able to do that,” he says.

Part 2: Angelina Jolie gives profile boost to genetic testing

Until recently, genetic testing was something a lot of people didn’t know much about – if they knew about it at all.

But when Angelina Jolie revealed earlier this year that she had undergone genetic testing as a result of genetic counselling, and then undergone a double mastectomy after learning she had a high risk of breast cancer, she set off a flurry of worldwide attention on the practice.

The cancer centre in Kitchener’s Grand River Hospital was no exception to the sudden busyness.

Employees there say they’ve seen a spike in calls related to genetic counselling.

“The biggest part of a genetic counselling assessment is reviewing the family history to try to figure out just how likely is it that these cancers in the family are hereditary,” says GRH genetic counsellor Kathleen Buckley.

“From there, we’ll determine which people qualify for that genetic testing and weigh the pros and cons with them.”

In Ontario, 72,000 people are diagnosed with cancer each year.

A small percentage of those 72,000 will have inherited a gene that increases their risk of cancer – and that’s where genetic testing can help sound an early alarm.

Anne Smith was diagnosed with breast cancer after a routine mammogram late last year.

Her diagnosis came as a surprise, and although a double mastectomy reduced her risk of recurrence, she still wanted to know more about her family’s medical history.

Because she was adopted, she turned to genetic testing as a way to learn more.

“It’s as simple as any other blood test,” she says.

“It’s ‘Take a little bit of blood from your arm, and away you go.’”

Smith is still waiting to hear back on her results, but says whatever information she gets will help not only her, but her children as well.

“Regardless of what the result is, it will help give me an answer on one, why I got this (and) two, what further risk is with ovarian cancer,” she says.

OHIP only covers genetic tests for Ontarians who meet certain criteria, such as being able to prove at least two blood relatives have had cancer.

Otherwise, the tests can cost in the neighbourhood of $2,000.

Part 3: Genetic testing results not as important as what comes next

Genetic testing is one of the services Dr. Deepa Takhar provides out of her Cambridge clinic.

She’s done it often enough to know that some of her patients need to be prepared for any possible result.

“Even before we do the testing, I tell you ‘If you come across this or this, how do you feel?’” she says.

“So you have a plan set up even before you have the testing.”

Robin Thomas was run through that process when she visited Takhar hoping genetic testing would help her learn more about her chronic fatigue.

“I thought if I did the genetic testing, it would give a precursor to what is going on with my system,” she says.

She’s still waiting to learn about her results, but Thomas has already learned that what happens after the rest results are in are as important as the decision to take the test.

Statistics from MedCan show that 65 per cent of Canadians who undergo genetic testing make changes to their physical activity after receiving results, 69 per cent change their diet and 46 per cent seek additional tests or screenings.

Thomas says she’d go even farther if her results showed something abnormal.

“I want to be proactive and I’m ready to deal with the result,” she says.

“For instance, if there was a precursor for breast cancer – immediate double mastectomy.”

But not all outcomes of learning genetic testing results are positive.

In Canada, results showing predispositions to certain diseases can cause people to be denied life insurance, health insurance, and even employment.

“It is absolutely shocking that when we talk to Canadians, many don’t know that the information can be used against them,” says Bev Hein-Myers, CEO and executive director of the Huntington Society of Canada and chair of the Canadian Coalition for Genetic Fairness.

American legislation prevents residents of that country from being discriminated against based on genetic information, but Canadians have no similar protection – although this week’s federal throne speech outlined plans to introduce a similar law.

CTV’s Rosie Del Campo is looking at the ins and outs of genetic testing in a special series airing this week on CTV News.