Ovarian cancer sufferers rarely referred for genetic testing

by Lucianna Ciccocioppo
An Ontario study of 491 women with invasive ovarian cancer found only a small proportion, 19 per cent, were referred for genetic testing of BRCA1 and BRCA2, the breast cancer genes, which means family members are not informed of their cancer risk.
Professor Kelly Metcalfe of U of T'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 recently in the journal, Gynecologic Oncology.
"Although approximately 10 per cent 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 counselling or healthcare 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," Metcalfe said.
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 per cent 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 per cent);  had children (21.3 per cent); and had a positive family history of breast cancer (47.2 per cent) or ovarian cancer (55.2 per cent) or a personal history of breast cancer (62.1 per cent).
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.
The study was funded by the Canadian Institutes for Health Research and is available at:
www.sciencedirect.com.