For many patients diagnosed with breast cancer, a fundamental question is “why did this happen to me?” While the specific answer is rarely clear, genetic testing can help us identify the patients for whom we can offer a potential explanation.
For the 5-10 per cent of breast cancer cases caused by inherited genetic predisposition, genetic testing can offer a roadmap for critical decisions about one’s current and future health, as well as the health of their family.
Testing a patient for hereditary breast cancer aims to identify genetic conditions that predisposed them to developing their cancer. This also may be associated with an increased risk for other cancers, such as ovarian and prostate cancer. Genetic testing allows a patient to make informed decisions regarding their future cancer risks, including increased cancer surveillance or prophylactic surgeries for cancer risk reduction. It also may open personalized treatment opportunities, such as PARP inhibitor therapy. Additionally, identifying a hereditary cancer syndrome allows family members to access targeted genetic testing to assess their risk of breast and other cancers and pursue personalized risk management.
The goal of hereditary cancer genetic testing is straightforward, but the path to achieving it is not. Access to this essential service in Canada is currently a patchwork of inconsistent provincial guidelines, regional policies and institutional capacities.
At this moment, we are not meeting the needs of our patients. Many who could benefit from genetic testing and counselling do not make their way to our clinics due to inequitable and outdated guidelines, long waitlists and insufficient education of non-genetics physicians regarding to whom testing should be offered. As a result, patients miss opportunities to alter their surgical planning based on genetic results or to receive targeted therapies. Some patients develop new cancers or die prior to being tested. Family members may develop cancers that could have been prevented, due to delays or inability to access genetic testing.
In Quebec, where I practice, we do not have provincial genetic testing guidelines. In one part of the province, an oncologist might order testing; in another, a patient may face a months-long wait to see a genetics specialist before a test is even ordered.
This disparity is a tragic reality in Canada, where the timeliness and quality of care is too often dictated by where you live and where you are treated. In the context of this inconsistent and outdated model, we are sadly failing patients every day.
It is time to fix this issue. Too many people are being missed, and too many lives are lost due to long wait times and unanswered questions. It’s time to put patients first.
Last year, I joined colleagues from oncology, surgery and genetics to develop a pan-Canadian Expert Working Group that released a clear roadmap for the future of germline genetic testing for breast cancer. These recommendations are only as strong as the groups that will support them.
Of the 12 recommendations we developed, we are calling on governments to prioritize the most attainable, to ensure every Canadian with breast cancer receives equitable, timely and informed access to genetic testing.
Test all patients with breast cancer diagnosed at age 65 or under
Provinces should immediately align on a national standard for genetic testing eligibility, offering germline genetic testing to patients with newly diagnosed invasive breast cancer, a personal history of invasive breast cancer or ductal carcinoma in situ diagnosed at age 65 years or under. Testing should be offered to select individuals with breast cancer over age 65 who meet specific hereditary risk criteria or could benefit from targeted therapies.
Standardized multigene panel testing
Genetic testing should go beyond BRCA1/2 and be performed via multigene panel to identify other actionable pathogenic variants in high and moderate risk genes, which may inform the need for assessment of second primary cancers and familial risk. At a minimum, panels should include the following 13 genes: ATM, BARD1, BRCA1, BRCA2, CDH1, CHEK2, NF1, PALB2, PTEN, RAD51C, RAD51D, STK11, and TP53.
Test at initial assessments via mainstreaming
To improve patient flow, we must empower non-genetics professionals such as medical and surgical oncologists to integrate germline testing into their initial assessments. However, this depends on buy-in from genetics, oncology and health ministries. In particular, this depends on supporting oncologists in providing comprehensive counseling, and our labs being sufficiently equipped and funded to handle the increase in testing volume.
Empower patients with the information they need
Putting the patient first begins with transparency. Before a test is ordered, we must ensure every patient who is a candidate for testing is given the information they need to provide informed consent, enabling them to actively participate in their own care decisions. Patients with actionable results should be offered timely, individualized post-test genetic counselling in clinical cancer genetics to navigate uncertainty, manage anxiety and serve as a home base for genetics-related care and for the patient and their family.
To bring about change, we need to push the boundaries of Canada’s health-care systems. Every patient deserves to know if their breast cancer is hereditary, if their treatment could be more precise and if their loved ones are at risk. By coming together as health-care providers, policymakers, industry leaders and advocates, we can shape national practices and ensure that every patient with breast cancer in Canada receives equitable care, and that nobody is left behind.
