Women’s Cancers and Genetic Testing

To be tested or not? Princess Margaret genetic counsellors can help you decide

Cancer specialists have determined that between 5 and 10 percent of cancer cases diagnosed today are due to an inherited gene mutation(s). There is no doubt that certain families have more than their fair share of cancer, and if you are a member of such a family, you may wonder if there is anything you can do.

In 1992, The Princess Margaret established a clinic to assist women with a history of ovarian cancer, and in 2006, the clinic expanded and also now assists women who may have a history of breast cancer. The clinic is called the Familial Breast and Ovarian Cancer Clinic (FBOCC), and it is a multi-disciplinary clinic offering the services of genetic counsellors, plus breast specialists and gynecologic oncologists who can consult with women or men at high risk. If you have a family history of breast or ovarian cancer, speak with your doctor, and s/he can refer you to this clinic.

A visit to the clinic consists of an evaluation of family history with a genetic counselor, as well as a discussion of genetics, hereditary cancers, specific cancer risks and management options, plus the implications of genetic testing. The Ontario Ministry of Health has specific guidelines, including 13 criteria that define who is eligible to have the testing done and covered by OHIP. For patients who are interested in and eligible for genetic testing, a blood test would then be arranged.

Travelling all the way to Toronto is not required to obtain the benefits of FBOCC. Meetings with a genetic counsellor can take place via videoconference through the services of Telehealth Ontario. Language interpretation services are also available for patients/clients who are not proficient with English.

Once the results of the genetic testing are available, the counsellor meets with each client to discuss management options and recommendations. If the test confirms a hereditary predisposition to either cancer, the options could range from close monitoring to a preventative mastectomy or hysterectomy. The counsellor is available to answer any questions and to book appointments with breast or ovarian oncologists if necessary. “The goal,” says Rochelle Demsky, a genetic counsellor with the clinic, “is to provide the information women (and men) need in order to make the best possible health decisions for themselves and their families”.

It is known that women who carry mutations of the BRCA1 or BRCA2 genes are at higher risk of both ovarian and breast cancer, and, at a minimum, they need to be checked regularly for any signs of the disease. Other genetic abnormalities that increase risk of the disease have been identified.

The clinic can provide follow-up counselling for other family members who need to be aware of their higher risk, and their options for dealing with that higher risk. With more breast and ovarian cancer being diagnosed among younger women, this service is becoming more critical.

As with all clinics at The Princess Margaret, FBOCC is engaged in research to determine how genetic counselling services can be more effective and serve patients and their families better. For example, analysis of the data collected at the clinic indicates that women and their doctors are not paying enough attention to paternal family history of breast or ovarian cancer. There are five times as many women referred to the clinic who have a maternal history of breast or ovarian cancer vs. a paternal history of either disease. This indicates that there is not a clear understanding or appreciation that genetic mutations like BRCA1 and BRCA2 can just as likely be passed down from a father as from a mother.