What is genetic testing?

Medical tests done to see the presence of certain abnormal genes is called genetic testing. Genes are like the recipe book of our body. Genes tell our body's cells how to make different things like proteins and define your looks and body functions. Unfortunately, genes can get mutated sometimes, resulting in a change in how the body makes certain protein. These mutations can cause disease.

Genetic tests look for mutations specific to various diseases. In this section, mutations that increase breast and ovarian cancer risk will be discussed specifically.

Which genes affect a person’s risk of breast and ovarian cancer?

Out of several genes affecting a person’s breast and ovarian cancer risk, two are especially important called BRCA1 and BRCA2. Mutations in either of them can lead to a high risk of breast cancer in both men and women and risk of ovarian cancer in women.

Genes are passed through generations, so anyone with relatives who have had breast or ovarian cancer, especially at younger ages, may want to have genetic testing to find out if they have mutated BRCA genes. With this information, they may take protective measures if mutation is found in them too.

Should I have a genetic test for breast and ovarian cancer?

Genetic testing for mutated BRCA genes is recommended in patients with a strong family history of ovarian or breast cancer.

Genetic testing is recommended in patients who:

• Have breast or ovarian cancer diagnosed in two or more close relatives (mother, sister or daughter for females and father, brother and son in males). It is especially recommended if one or more were diagnosed before 50 years of age
• Have family member with multiple cancers (e.g. breast cancer in both breasts, breast and ovarian cancer).
• Different generation family members having breast or ovarian cancer (e.g. sister, mother, grandmother, all having cancer). The father’s side (paternal) family history is equally important as mother’s side (maternal).

Remember that even though family history is important, it doesn’t mean that you have the mutated genes for sure too.

It’s better to get the family member who was already diagnosed with breast or ovarian cancer to get tested for gene mutation first (if they haven’t done that before). If they don’t have the mutation, then the chance of you having mutation is low.

What should I do before I get tested?

The results of genetic testing aren’t always clear-cut. Before getting tested for gene mutation, talk to an expert doctor and a certified genetic counselor to understand the test results and what the test results could mean for you and your family along with the cancer risk and test cost.

What if I test positive for BRCA1 or BRCA2?

Staying calm is the first thing to do. The changes of getting a cancer can be lowered in several ways.

First of all discuss in detail with your doctor and the genetic counselor what the results mean specifically for you. Discuss with them how you can lower the chances of developing cancer. Also strongly consider telling your family about the test results as it affects their health too and they might want to get tested as well!

How can I lower the chances of getting cancer?

The chances of developing breast or ovarian cancer in BRCA mutation positive people can be reduced by:

• Regular screening for breast and ovarian cancer. This won’t prevent the cancer directly but management is easy if detected in the earlier stages.
• Breast and ovary removal. (Ovaries can be removed by age 40 for biggest benefit)
• Medicines to prevent cancer from developing
• Combining more than one or all of these choices

Will my insurance cover genetic testing?

Some health insurance companies might completely or partially cover the testing cost, however your doctor or genetic counselor might have to write to the insurance company, explaining the reason for testing.