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Few Ontario women with invasive ovarian cancer referred for genetic testing of breast cancer genes

(TORONTO: December 4, 2008) - An Ontario study of 491 women with invasive ovarian cancer found only a small proportion, 19%, were referred for genetic testing of BRCA1 and BRCA2, the breast cancer genes, which means family members are not informed of their cancer risk.

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, led the nursing study, which was published online yesterday in the journal, Gynecologic Oncology.

"Although approximately 10% of women with ovarian cancer have a BRCA1 or BRCA2 mutation, the majority of women are not being referred for genetic testing. Women may not know they are eligible for free genetic testing and counseling, 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," says Metcalfe.

According to Metcalfe's study, lack of genetic testing referral for such women will miss more than one-third of those with BRCA1 and BRCA2 mutations. These mutations mean an 80% lifetime risk of breast cancer for these women and for family members who may also carry the gene.

The study also found women were more likely to get tested if they were:

  • White (20.6%)
  • Had children (21.3%)
  • And had a positive family history of breast cancer (47.2%) or ovarian cancer (55.2%), or personal history of breast cancer (62.1%)

In 2001, the Ontario Ministry of Health extended the criteria for genetic testing to include all women with a diagnosis of invasive 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.

Generally, patients rely on physician referral for genetic testing. The study concludes reliance on physicians for patient referrals for genetic testing is inadequate and greater physician education and public awareness is needed.


Contact: Lucianna Ciccocioppo
University of Toronto

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