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The Role of Genetic, Genomic and Tumor Profiling Tests

Every cell in your body contains your unique genes, which are made of DNA, or the chemical blueprint for your body. Sometimes our DNA changes, or mutates, disrupting the cell’s normal function. In some cases, this can increase our risk for developing certain cancers.

Just as you inherit your genes from your parents, you can also inherit genetic mutations from them. Knowing more about our inherited genetic mutations can tell us if we’re more likely to develop certain diseases, such as breast cancer.

The video below helps to explain the difference between a genetic test, a tumor profiling test and a genomic test, and when each should be used. While each test is different, they all look at a person’s DNA to better understand his or her unique makeup.

A genetic test uses blood, saliva or cheek cells to look for specific, inherited gene mutations linked to an increased risk of breast cancer, or other diseases. For those who have breast cancer, genetic tests can determine if the cancer is due to an inherited gene mutation. This information can help plan treatment. It can also help family members understand their risk of breast cancer. Speak to a genetic counselor if you’re considering genetic testing.

For someone who already has breast cancer, a tumor profiling test looks in the breast cancer cells for specific changes in a gene or panel of genes. This information is used by doctors to help guide treatment decisions, and sometimes, to help predict if the cancer will spread.

Lastly, a genomic test uses samples of blood, saliva, cheek cells or breast cancer cells to look at mutations across all the DNA in a cell, not just the specific gene or sets of genes. Genomic testing can be done on normal cells to detect all a person’s inherited mutations, or on the tumor cells to detect all mutations in the cancer cells.

To summarize, genetic tests look for specific gene mutations a person has inherited. Tumor profiling tests look at specific gene mutations in a tumor cell. And genomic tests can be done on normal cells to detect all a person’s inherited mutations or on tumor cells to detect all the mutations in the cancer.

It’s important to consult with a doctor about these tests, and which, if any, might be right for you.