Professor Kelly Metcalfe of the Lawrence Bloomberg Faculty of Nursing has received funding from the Canadian Institutes of Health Research (CIHR) to develop a notification and support system to increase access to genetic testing for women with breast cancer.
Recent changes to Ontario’s genetic testing guidelines mean more women under 50 with a history of breast cancer, are now eligible to access genetic testing that can determine if they carry a BRCA1 or BRCA2 mutation (pathogenic variant). Previous testing guidelines meant that only women under the age of 35 at the time of diagnosis and with a family history of breast cancer, were eligible for testing.
There is currently no standardized mechanism to update women and their care providers about these changes, which is why Metcalfe is developing a provincial notification system to increase access to genetic testing for women whose eligibility may have changed since they were diagnosed.
This is significant, she says, because understanding genetic risk allows women to receive more personalized treatment options that can improve their outcomes, and may also benefit family members who can undergo testing sooner, as these mutations are passed down from generation to generation.
“There are tens of thousands of Canadian women with a history of breast cancer who are now eligible for genetic testing, it’s a failure of the system if we don’t identify them sooner,” says Metcalfe, who is also a Senior Scientist at Women’s College Hospital.
That is because knowing their genetic risk can inform care providers about whether these women and their family members, are at risk of developing new breast cancer or ovarian cancer. Research shows that the average Canadian woman has a 13 per cent life-time risk of developing breast cancer, while women with a BRCA1 and BRCA2 pathogenic variant have up to an 80 per cent lifetime risk.
To improve their outcomes, they may be offered increased monitoring and the option to receive preventive treatments, such as prophylactic mastectomy or oophorectomy – removal of the ovaries.
“Ovarian cancer is often discovered at a later stage of the disease and prognosis is often poor. Having a pathogenetic variant puts women at a higher risk for this cancer and that is why is it critical we identify who is at risk and increase access to genetic testing,” says Metcalfe.
As part of the CIHR-funded project, Metcalfe will co-design the notification system with individuals who have been assigned female at birth, are between the ages of 26-45 and who have received a breast cancer diagnosis, along with health care providers, to determine barriers and facilitators to testing, as well as what would increase uptake of genetic testing once they have been notified.
Metcalfe anticipates that testing guidelines will continue to evolve and that more women will be come eligible for genetic testing in the coming years. She believes this is a positive step forward in preventing new cancers in women with breast cancer, as well as their relatives.