Profile of Kelly Metcalfe

“Women need to know their options” Nursing’s Kelly Metcalfe discusses the importance of genetic testing for women with breast cancer

20 October 2022

For close to two decades Kelly Metcalfe, Associate Dean of Research, and a Professor at the Lawrence Bloomberg Faculty of Nursing, has explored better treatment paths for women diagnosed with breast cancer specifically those with the BRCA1 and BRCA2 genetic mutation. Helping women at this vulnerable stage in their cancer journey navigate their treatment options, which can include decisions about undergoing breast conserving surgery or double mastectomy, has a significant impact on their psychosocial well-being and their rates of survival. To make a well-informed decision, women need to understand their options and what Metcalfe calls their “genetic status.”

“Most women who receive a breast cancer diagnosis are not aware that they have a genetic mutation,” says Metcalfe of the need for broader access to genetic testing. “We know from previous evidence that those who do have the BRCA1 or BRCA2 mutation should receive different treatment for their cancer as it may impact their survival.”

Bloomberg Nursing’s communications lead Rebecca Biason, spoke with Metcalfe who is also a Senior Scientist at Women’s College Research Institute, about an alternate model of care using Direct Rapid Genetic Testing or DRGT that she and her team are currently evaluating. Metcalfe shares how her pilot study could help bring genetic testing and changes to treatment decisions to high-risk Canadians when they need it most.

What does this new model of care look like and how does it support a woman diagnosed with breast cancer?

This proposed alternate model of care sees women who have received a breast cancer diagnosis, self-refer for Direct Rapid Genetic Testing or DRGT. Following a brief phone conversation, they are sent an at home saliva kit, they spit into a tube, and they mail in their specimen. Results can be received within a week, and what makes this process more accessible is that women can conduct this test from the comfort of their homes and without having to first speak with a genetic counsellor. Instead, they are provided with access to virtual information videos and counselling sessions that decrease the amount of time needed for them to make an informed decision about their surgical options. We are in essence, revolutionizing the way we provide genetic testing to these women.

What are the benefits for a woman who is considered high-risk of having a genetic mutation?

In traditional models of care, genetic testing is provided through a genetic testing clinic. Generally, these clinics are located in large urban centres which can limit access for many Canadians. There are also a few more steps involved that can seem daunting for someone who has just been informed they have cancer. Patients are required to meet with genetic counsellor, pay for parking, meet with their surgeon and oncologist. It can make it difficult for someone to make decisions about their care plan.

Understanding your risk and genetic status is an important part of the treatment process. For the average woman with breast cancer, having a lumpectomy and radiation results in a similar survival rate for a woman who chooses to undergo a bilateral mastectomy. However, our research has shown that women with the BRCA 1 or BRCA 2 genetic mutation should have a bilateral mastectomy because it increases their rate of survival, due to the high risk of developing a new breast cancer.

What’s next for the future of this model of care?

We are currently in the evaluation phase and are testing this new model to make sure women are satisfied and that they understand the information they are receiving. We are also evaluating how better access to genetic testing impacts their treatment decisions.

In our previous research, which focused on offering genetic testing at diagnosis but through a different process that included a blood test and meetings with a genetic counsellor, we were able to show that eighty per cent of women were found to have a mutation did elect to have a bilateral mastectomy.

We have also found evidence that there is no negative psychosocial outcome for women by providing genetic testing at time of breast cancer diagnosis. The majority want to know.

Right now, with respect to our current trial and study our hope is to be able to provide evidence to policy makers that this is an effective model to provision treatment at time of breast cancer diagnosis. If it were up to me every woman would have access, and I need to see that change, but in order to make that a reality, we need evidence to support that this model of care and this change in how treatment decisions are made, would be beneficial to patients.