Understanding Testing in Breast Cancer: Genetic, Genomic, and Biomarkers Explained

Genetic, genomic, or biomarker testing – what does it all mean? In this episode, Dr. Brandon Sheffield explains the key differences between genetic testing, genomic testing, and biomarker testing and how patients can make sense of the terminology to know when and why they are receiving a particular test and how it will inform their diagnosis. This podcast episode was supported by Hoffmann-La Roche Limited.

About Dr. Brandon Sheffield:
Dr. Sheffield is a pathologist, Medical Director of Immuno-histochemistry and Molecular Pathology and Physician Lead, Research at William Osler Health System.

Terms, tools and tips mentioned in this episode:
‘Genetic Testing’ is a type of medical test that identifies changes or mutations in a specific chromosome, gene, or protein. The results of a genetic test can confirm or rule out a suspected genetic illness or help determine a person’s chance of developing and/or passing on a genetic condition, such as some forms of breast cancer. Find more information about Genetic Testing here.

‘Genomic Testing’ looks at all your genes to understand how your body works on a molecular level, while genetic testing looks at a single gene. Genomic Testing in breast cancer looks for biomarkers that can provide information about an individual’s specific tumour. This testing is an important aspect of precision medicine, which can accurately assess if someone will benefit from certain treatments. Find more information about Genomic Testing here.

‘Biomarkers’ are molecules found in blood, bodily fluids or tissues that can indicate a condition or disease. In breast cancer, each person has a unique pattern of biomarkers (or tumour markers) that provide information about the cancer, with some of these biomarkers affecting how certain cancer treatments will work. Types of biomarker tests in breast cancer include estrogen receptor (ER), progesterone receptor (PR), and human epidermal growth factor receptor 2 (HER2). Find more information here.

Other helpful links and resources:
For more information about genetics and genetic testing including the benefits and risks, check out CBCN’s Questions and Experts Session Guide on Genetics.

To learn more about access to treatment options in breast cancer, speak with your doctor or listen to our episode: Having a Say: How To Navigate Challenges & Barriers in Breast Cancer Care.

Want more Breast Cancer Connection? Check out our other episodes here.

About the Canadian Breast Cancer Network
CBCN is Canada’s leading patient-directed breast cancer health charity that voices the views and concerns of breast cancer patients through the promotion of information sharing, education, and advocacy activities. CBCN connects patients, caregivers, health care professionals, researchers, public health agencies and industry stakeholders to improve knowledge translation and promote optimal health outcomes for Canadians with breast cancer. Learn more at cbcn.ca