Research Report 2018

Kelly Metcalfe, PhD | Senior Scientist

I have hereditary cancer, now what?

With the discovery of BRCA1 and BRCA2, the genes linked to hereditary breast cancer, there was an urgent need for healthcare providers to also understand the clinical implications of a positive mutation diagnosis. Research identified a heightened risk for breast and ovarian cancer for BRCA mutation carriers, however there was little information on how to counsel patients on what it meant in terms of prevention and treatment options. Kelly Metcalfe, PhD, has focused her research on closing this gap and understanding the psychosocial implications of genetic testing for BRCA mutations in women, men and their families.

Metcalfe is a part of the Familial Breast Cancer Research Unit, which has developed the largest known database of North American women with hereditary cancer, including pathology and treatment. Using her background as an oncology nurse, Metcalfe has focused on identifying gaps in hereditary cancer research that have significant impact on patients’ experiences and outcomes. Her research has shown that bilateral mastectomy and oophorectomy, as a treatment for breast cancer, can reduce the risk of dying by half, helping women with BRCA mutations make informed decisions regarding the prevention and treatment of their breast cancer.  

Metcalfe is currently investigating the benefits of providing rapid genetic testing at the time of breast cancer diagnosis so that women can personalize their treatment based on BRCA status. Genetic testing has improved immensely in both quality and speed, allowing healthcare providers to share valuable information with women before they need to make decisions around surgery and treatment. Metcalfe launched the study to examine how knowledge of a BRCA mutation at the time of breast cancer diagnosis could influence decision-making, as women with a BRCA mutation are more likely to choose to undergo preventative surgical options to minimize their risk. The study is also assessing how women feel before and after receiving the results of their genetic testing to ensure that providers are not creating an undue hardship on these women. Metcalfe hopes that the results of this research will help to expand the availability of rapid genetic testing for BRCA1 and BRCA2 to newly diagnosed breast cancer patients across the country.