Your questions about BRCA gene testing and genetic counseling for breast cancer, answered

A family of three generations of women talking with each other.


Knowledge is power when it comes to your breast health and managing cancer risk.


By Danielle Balavram, Licensed Certified Genetic Counselor, Nuvance Health


Breast cancer is the most common cancer diagnosed among women in the United States. While it is less common, men can also get breast cancer. Since it is so common among women, many of you might wonder about your breast cancer risk. Genetics and family history can play a role in breast cancer risk. But, how can you determine your risk?


A genetic counselor is a specially trained professional who can review your personal and family health history. A genetic counselor can also discuss your options for genetic testing, and if you are tested, what the results mean for you and your family.



What are the benefits and risks of genetic testing for breast cancer?




Through genetic testing, we can determine how your genes may influence the potential development of cancer for you and individuals in your family. There may be proactive ways to lower the risk of developing breast cancer if you have a hereditary predisposition to it.



Gathering information about hereditary risk for breast cancer can empower you to make decisions regarding your health. Understanding family history and genetic testing results can provide valuable information that may influence screening recommendations for you and your family. Genetic testing for those with breast cancer can also help care teams develop personalized treatment plans and post-treatment care during survivorship.





One of the risks of genetic testing is how someone interprets and uses the information. The information can sometimes be overwhelming, so we may recommend waiting until an individual is ready to handle the results.


What is the BRCA gene?


We are all born with genes that have certain functions in the body. These include BRCA1 and BRCA2 genes that we inherit from our biological parents.


BRCA genes help fight breast cancer and ovarian cancer by stopping cells from growing and dividing uncontrollably. BRCA genes can also help fight against prostate cancer, pancreatic cancer and melanoma. Changes to BRCA1 and BRCA2 genes are called mutations. BRCA gene mutations can prevent them from working normally and fighting cancer-causing cells.


You can inherit a damaged BRCA gene from your biological mom or dad. If your biological mom or your dad has a BRCA1 or BRCA2 gene mutation, you have a 50% chance of inheriting the same gene mutation.


What does a BRCA gene mutation mean?


A damaged gene or mutated gene does not function properly. A BRCA gene mutation means it may increase the chance that cells grow out of control, which can lead to cancer. A BRCA gene mutation increases your risk for breast cancer, ovarian cancer and other cancers. 


According to the U.S. Centers for Disease Control and Prevention, about 50% of women with a BRCA1 or BRCA2 gene mutation will get breast cancer by the time they are 70 years old, compared to about 7% of women at average risk of breast cancer. About 30% of women with a BRCA1 or BRCA2 gene mutation will get ovarian cancer by the time they are 70 years old, compared to less than 1% of women at average risk of ovarian cancer.


BRCA gene mutations can also increase breast cancer risk in men as well as prostate cancer. These gene mutations can also increase the risk of pancreatic cancer in men and women.



How is the BRCA gene tested?


Your genetic counselor can initiate a genetic test for you. Together, you can decide what gene sequencing to include in your test. Depending on your goals of genetic testing and personal and family health history, you may decide to test a few or many genes known to cause certain conditions and diseases. You will provide a saliva or blood sample for the test.


What can I expect from genetic counseling for breast cancer?


Your initial meeting with a genetic counselor will be about an hour and can be in person or a video chat. We will discuss your health goals and if genetic testing may play a role in meeting them.


We will ask many questions about your personal and family health history. If we recommend genetic testing, we will discuss the benefits, risks and limitations. We will also discuss how the results might affect your life.


If you decide to pursue genetic testing, we can initiate it right at the first appointment by getting a blood or saliva sample. It takes about two to three weeks to get the results.


What do genetic testing results mean for my family?


Most hereditary cancer syndromes follow autosomal-dominant inheritance. This means your first-degree relatives — parents, children and siblings — have a 50% risk of also carrying the gene mutation.


We will review your family tree and offer genetic testing to family members who may be at risk of carrying the same gene mutation. However, most of the time, we do not test individuals under 18 years old because the risk usually does not appear until adulthood. 


At Nuvance Health, we will help you tell your family members if you have a gene mutation that increases cancer risk. It can be a difficult conversation, so we assist with scripting or writing a letter. Some people prefer us to have the conversation directly with their family members.


Should people who already have breast cancer have genetic testing?


At Nuvance Health, genetic counseling for breast cancer patients is optional but highly recommended. We are seeing more patients opt for genetic testing because the results can affect their treatment plans, such as what type of surgery or chemotherapy may be more effective. Care teams make targeted medical interventions or personalized medicine recommendations based on an individual’s genetics to effectively treat it and reduce the chances it comes back.



It is important to note that genetic testing and genomic testing are different. Genetic testing reveals the genetics we were born with. Medical oncologists use genomic testing to determine the genetic makeup of a cancerous tumor itself to develop a targeted treatment plan. The biology of a tumor can have a different genetic makeup than what we are born with.


Many people with breast cancer are also interested in genetic testing for their family. They want to know if they carry a gene mutation that increases risk for a type of cancer so their children and siblings also know their potential risk.



What is the role of genetic counselors in breast cancer care?


At Nuvance Health, genetic counselors are part of the breast cancer care team. We regularly meet with breast cancer specialists from medical oncology, radiation oncology, surgical oncology, radiology, pathology and more to develop treatment plans for our patients.



Genetic testing results contribute to the care team’s informed decisions about treatment. For example, if a patient has a gene mutation that increases their risk for breast cancer, their medical and surgical oncologists may recommend increased screening or a more tailored approach to their medical treatment.


What should I know about genetic testing and privacy?


Some people are concerned about privacy when it comes to genetic testing results. The Genetic Information Non-Discrimination Act (GINA) is a federal law that protects against discrimination related to genetic testing results. Here is information about GINA. We also recommend people look into this before having genetic testing if they are concerned.


Under GINA, individuals have full protection from employers or health insurance companies accessing the information. However, GINA does not apply to companies with fewer than 15 employees. GINA also does not protect against life insurance, long-term care insurance or disability insurance from accessing genetic testing results. 


The bottom line: Genetic counselors can help you understand your breast cancer risk. Together with your care team, you can make informed decisions about managing your risk or your treatment plan if you have breast cancer. Talk with your primary care or women’s health specialist about genetic testing and if genetic counseling is right for you. They can connect you with a licensed certified genetic counselor.