Genomic testing unlocks new options within the oncological care process.

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When Elizabeth Wilson first noticed a lump in her breast, she didn’t think anything of it. She was 33 years old at the time, and “as a young person, I didn’t know I could get breast cancer,” she recalls. It was more than a year later, after pregnancy and having her baby girl, that she noticed an indented line on her breast in addition to the lump. “It turned out I had a four-centimetre tumour.”

One year after her diagnosis, Wilson found out her cancer had metastasized to her bones. It was then that she decided to get genomic profiling.

What is genomic profiling and its role in precision oncology?

Genomic profiling refers to the analysis of a tumour sample to look at the activity level of specific genes that affect the behaviour of cancer, including how likely it is to spread and how it may respond to different treatments. “It’s one aspect of precision oncology,” says Dr. Karen A. Gelmon, professor of medicine, University of British Columbia and medical oncologist, BC Cancer. “Precision oncology involves knowing about the tumour and the patient, and using this information to assess appropriate treatment.” 

In Canada, many centres use genomic profiling for various cancers in some capacity, but its use for breast cancer is not yet standard. The Canadian Breast Cancer Network (CBCN), Canada’s only patient-directed national breast cancer health charity, issued a report about precision oncology and breast cancer in 2021, informed by engagements with patients and oncologists focusing on the gaps and needs in this space. The CBCN report calls for a coordinated national framework to guide genomic testing use, to ensure equitable and timely patient access to testing and treatment.

The evolution of precision oncology allows physicians to deliver a more individualized treatment model, with the goal of matching the right drug to the right person at the right time. Through genomic profiling, clinicians can better predict what a tumour will do and how it will respond to specific targeted treatments.

The utility of genomic profiling may be different in various stages of breast cancer in an individual. In Wilson’s case, genomic testing–did not present new therapy options, but it empowered her with the knowledge to make decisions about her current and prospective treatments. “If we did genomic testing as standard of care, we could catch mutations and start therapies earlier,” says Wilson. 

Integrating precision oncology into standard breast cancer treatment

Health Canada has approved several targeted therapies, but they require testing for molecular biomarkers prior to use. This speaks to another recommendation coming out of the CBCN report–working toward a more flexible and faster approach to the approval and funded access to innovative cancer therapies. 

Covid-19 demonstrated that rapid testing standards and expedited approvals of new therapies are possible. Applied to genomic profiling and new cancer therapies, accelerated reviews would improve outcomes for those living with breast and other forms of cancer.

Education is also essential as patients partner with their care providers to navigate disease management towards a cure.

Cathy Ammendolea, CBCN board chair, has experienced a personal breast cancer diagnosis. As a strong advocate for precision oncology, she says it offers patients hope for tailored and individualized treatment and care that can result in better outcomes. “We can do better for cancer patients by turning this hope into a reality.” 

To help understand the different perspectives and values on precision oncology in breast cancer and the role of testing and data, the Canadian Breast Cancer Network hosted two national virtual roundtables with patients and oncologists. Findings are outlined in the report, Precision Oncology and Breast Cancer: Considering Canada’s approach in an Evolving Landscape.