News

Genetic screening under-utilized for women with ovarian cancer

December 15, 2008

Ontario women with invasive serous ovarian cancer (the most common type of ovarian cancer) are eligible for free genetic screening, but new research shows that only a few are referred for the testing.

‘Although approximately 10 percent of women with ovarian cancer have a BRCA1 or BRCA2 mutation, the majority of women are not being referred for genetic testing,’ says Dr. Kelly Metcalfe, an associate professor at the University of Toronto's Lawrence S. Bloomberg Faculty of Nursing, and an adjunct scientist at Women's College Research Institute.

BRCA1 and BRCA2 are two inherited genetic mutations that dramatically increase a woman’s risk of developing breast or ovarian cancer. These mutations mean an 80 percent lifetime risk of breast or ovarian cancer for these women and for family members who may also carry the gene.

‘Women [in Ontario] may not know they are eligible for free genetic testing and counselling,’ said Metcalfe, ‘or health-care providers may not be making the referrals. This puts an entire family at risk because family members are unaware that they may also be at a very high risk of developing breast or ovarian cancer,’

Dr. Metcalfe’s study included 491 Ontario women with invasive serous ovarian cancer. The study was funded by the Canadian Institutes of Health Research and recently published online in the December issue of the journal Gynecologic Oncology.

In 2001, the Ontario Ministry of Health and Long-Term Care extended the criteria for genetic testing to include all women with a diagnosis of invasive serous ovarian or fallopian tube cancer because of the prevalence of the BRCA1 and BRCA2 gene mutations in these women. The purpose of the study was to assess the impact of this expanded policy for genetic testing in Ontario. This testing is now available to all women in Ontario, whether or not they are part of a study. Other Canadian provinces including British Columbia, Alberta and Quebec have similar guidelines.

Women were more likely to be tested if they were white (20.6%), had children (21.3%) or had a family history of breast cancer (47.2%), ovarian cancer (55.2%), or a personal history of breast cancer (62.1%).

According to the study, the low level of genetic testing observed means that more than one-third of ovarian cancer patients with the BRCA1 and BRCA2 mutations will be missed in Ontario. Generally, patients rely on physician referral for genetic testing. Metcalfe concluded that relying on physicians to refer patients for genetic testing is inadequate and greater physician education and public awareness is needed.

Source: University of Toronto

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