Genetic counseling for breast cancer

Focus on breast health: Genetic counselor addresses genetic testing for breast cancer.

By Danielle Kupperman, MS, LCGC, Licensed Genetic Counselor, Nuvance Health


Danielle Kupperman, MS, LCGC, Licensed Genetic Counselor, Nuvance Health

ocus on Breast Health is a series of tips to inform and empower you to be proactive about all aspects of breast care.

A genetic counselor is a specially trained professional that will meet with you to review your personal and family health history. Your genetic counselor will also discuss and recommend certain genetic testing and explain what the results mean for you and your family.


Is genetic counseling recommended for patients with breast cancer?

At Nuvance Health, genetic counseling for breast cancer patients is optional but highly recommended. Understanding family history and genetic testing results can provide valuable information that may influence treatment and screening recommendations for the patient and their family.


We are seeing more patients opt for genetic testing because the results can impact their treatment plan. There are more targeted medical interventions, called personalized medicine, based on an individual’s genetics and whether they are at a higher risk for cancer or a recurrence. For example, genetic testing results may dictate what type of surgery or chemotherapy may be more effective.


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 then develop a targeted treatment plan. The biology of a tumor can have a different genetic makeup than what we are born with.


Many patients 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 are the benefits and risks of genetic testing?

Through genetic testing, we can determine how your genes may influence the potential development of cancer for you and individuals in your family. If we learn through genetic testing that you have a hereditary predisposition, there may be proactive ways to reduce your risk of a breast cancer recurrence or lower the risk that you will develop another type of cancer.


It is important to remember that knowledge is power. Gathering information about a potential genetic mutation can empower you to make decisions regarding your health.


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 have regular meetings 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 can I expect from genetic counseling?

The initial meeting is usually about an hour and can be in person or via video chat. We discuss the patient’s goals and how genetic testing can best help them.


We ask a lot of questions about the patient’s personal and family health history. If we recommend genetic testing, we will discuss benefits, risks and limitations and how the possible results could impact their life.


If the patient decides 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 a patient’s first-degree relatives — parents, children and siblings — have a 50 percent risk of also carrying the gene mutation.


We review a family tree with our patients and offer genetic testing to their family members who may be at risk of carrying the gene mutation. However, most of the time, we do not test individuals under age 18 years old because the risk usually does not appear until adulthood. Additionally, the information itself can be overwhelming, so we may recommend waiting until the individual is ready.


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


What do I need to know about genetic testing and privacy?

Some patients are concerned about privacy. The Genetic Information Non-Discrimination Act (GINA) is a federal law that protects against discrimination related to genetic testing results. Individuals are fully protected from employers or health insurance companies accessing the information. However, please note that GINA does not apply to companies with fewer than 15 employees.


Life insurance, long-term care insurance and disability insurance are not protected. We recommend for patients to look into this before having genetic testing if they are concerned.


The bottom line: Genetic counselors are here as a resource. A genetic counselor can help you understand your breast cancer risk and make informed decisions about your breast cancer treatment. Ask your healthcare clinician about genetic counseling and they can connect you with a genetic counselor.


Learn more about genetic counseling for cancer at Nuvance Health.


Learn more about breast cancer care at Nuvance Health.