A family history of cancer
When Kim's mother, Amelia, tested positive for a genetic mutation that predisposes women to breast and ovarian cancer, Kim was worried but not surprised by the result. Her mom had been diagnosed with breast cancer at 40 and then ovarian cancer at 53. "We thought she would have the cancer gene," says Kim, who was then 34, with two young children.
The genetic test that revealed Amelia carried a mutation in the BRCA1 gene also meant that Kim had a 50 per cent chance of inheriting the same mutation as her mother. And if she had it, she could pass it on to her two-year-old daughter, Shaelyn. She was scared.
Kim recognized, however, that a genetic test could give her more accurate information about her own cancer risk. Unlike her mom, she would have an opportunity to be tested for the mutation before developing breast or ovarian cancer. She could then make informed choices about her future cancer prevention and screening strategies based on the test result.
Is it better to know?
Kim preferred the certainty of knowing to uncertainty. "I wanted to know if I had the cancer gene. Knowing was important. I had my children to think about, and I want to be there for them for a long time," she says. "If I had the gene, I wanted the doctors to be aware that I have a higher risk for cancer so I could take steps to prevent it."
In June 2000, Kim flew to Edmonton from her home in Fort McMurray, Alta., to meet with genetics counsellor Stephanie Kieffer at the Northern Alberta Cancer Genetics Clinic. They discussed the implications of both a positive and negative result. Was she psychologically prepared to handle that information?
For Kim, the decision to be tested was easy. But the choices she may face after receiving her test result would not be. If she tested positive for the BRCA1 mutation, would she choose to remove her breasts and ovaries to prevent cancer? Or would she choose intensified screening, which would increase her chances of detecting cancer early but do nothing to prevent the disease?
Kim had the DNA blood test done that day. She would know the results in four to six weeks.
A medical breakthrough
Kim is one of a growing number of Canadians who may be candidates for genetic testing, one of the most exciting breakthroughs in medical technology in recent decades. It's proving to be a key weapon in the battle against disease, all thanks to innovative research, such as the Human Genome Project, because genetic tests help us prevent and treat disease more effectively.
Genetic testing can be a powerful tool to help women make informed choices about their health. "In the days before genetic testing, women had preventive mastectomies and oophorectomies based on family history alone. Today, if the family history warrants, we can test for the gene first and women can then choose what to do based on that information," says Dr. Anne Summers, medical director of the genetics program at North York General Hospital in Toronto.
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