Rapid genetic testing offers women a choice when it comes to breast cancer treatment – U of T Nursing Study

26 March 2021

Cropped image of group of young multiracial woman with pink ribbons are struggling against breast cancer. Breast cancer awareness concept.

A new U of T led study has found that women with breast cancer who are offered rapid genetic testing (RGT) for BRCA1 and BRCA2  mutations and are able to receive their genetic test results prior to selecting treatment, choose to have a bilateral (double) mastectomy.

This type of surgery involves the removal of both breasts, and for those with a BRCA1 or BRCA2 mutation, can reduce their risk of dying of breast cancer by more than half. For those without the mutation, current guidelines recommend against bilateral mastectomy due to surgical complications and other risk factors.

The problem, is that most women do not know if they have a BRCA mutation at the time of their breast cancer diagnosis, making it difficult for them to make decisions about their treatment.

“We know that treatment for breast cancers resulting from mutations should be different,” says Kelly Metcalfe, a professor at the Lawrence Bloomberg Faculty of Nursing and lead author of the study. “For women without a BRCA1 or BRCA2 mutation who have what we call sporadic breast cancer, research has shown that a double mastectomy is not necessary, there is no survival advantage.”

This is why, Metcalfe notes, women need to understand their options and “know their genetic status,” before making treatment decisions.

Profile of Kelly Metcalfe

Kelly Metcalfe

As part of Metcalfe’s study, rapid genetic testing was offered to just over 1000 women in Toronto, who were able to travel to the city and provide a blood sample. Those who tested positive for the mutation received their results within 10 business days, and over 70% made the decision to have a double mastectomy while also indicating there was a limited negative impact on their psychological and social well-being.

“The results show that rapid genetic testing is effective for women in providing them with a choice,” says Metcalfe, who is also a senior scientist at Women’s College Hospital. “But this is not the norm, and RGT is not accessible to most women outside of the GTA.”

Typically, women diagnosed with breast cancer are referred by a physician to a genetic testing center if they meet certain criteria, such as a family history of breast cancer or they are a certain age at diagnosis. Prior to taking a test and after they receive their results, women must meet with a genetic counselor to discuss the advantages and disadvantages of the procedure. However, genetic counsellors are also in short supply, and not all women have access to testing centres which are often located in urban areas.

Additionally, for the purposes of the study, Metcalfe and her team of researchers relaxed the criteria for rapid genetic testing, and as a result, found many more women with BRCA1 and BRCA2 mutations.

“We can see why the current model of care needs to be re-evaluated,” says Metcalfe, “we need to be making it easier for women to access genetic testing and ensuring it is sustainable to scale up outside of local city centres.”

To further assess the effectiveness of RGT, Metcalfe has been awarded additional project grant funding from the Canadian Institutes of Health Research to evaluate an alternate model of care that involves Direct Rapid Genetic Testing or DRGT. DRGT provides genetic testing and counselling to women at the same time as their breast cancer diagnosis, with limited to no pre-test counselling.

This new model would allow women to self-refer for genetic testing and use an at home saliva kit which can be sent back in the mail. Instead of traditional genetic counselling, women will have access to virtual information videos and counselling sessions decreasing the amount of time needed for them to make a decision about their surgical options.

“By evaluating the effectiveness of this model of care we are hoping to change the way genetic testing is delivered and reduce the limitations women may face in making personalized and targeted decisions about breast cancer treatments,” says Metcalfe.

The study is published in the Annals of Surgical Oncology.