Genetic counseling

Genetic counseling is the process of meeting with a genetic counselor to discuss:

• Your family health history
• Whether having a genetic test for an inherited mutation is right for you

A genetic counselor is a healthcare provider trained to weigh the risks and benefits of genetic testing for an inherited mutation and to educate you about your genetic test results.

If you go to a genetic counselor, you are not required to have genetic testing. The goal of genetic counseling is to help you understand your risk of cancer and decide if you want to get tested.

When you first meet with a genetic counselor, your discussions will focus on your and your family’s health and cancer histories. Your counselor will use this information to help you decide whether to get genetic testing.

What to expect with genetic counseling

During the first appointment, your counselor will ask for details about your diagnosis, such as the type of breast cancer and how old you were at the time of diagnosis. They may also ask you to list any other major medical conditions you have now or had in the past.

Then, your counselor will create a family tree, also called a pedigree. It will list all your relatives through three or four generations, or everyone in your family from your children through your grandparents, including aunts, uncles and cousins. For each person you list, the counselor will want to know whether they ever had cancer.

If the relative did have cancer, the counselor will want to know:

• What type of cancer they had
• How old they were at diagnosis
• How long they lived and the cause of death, if the person died

It’s not always easy to collect medical information on all your relatives, especially if you are not in touch with your family or don’t know your biological family. Here are some things to know:

• Try to find as much information on each relative as you can before your first appointment.
• Talk with family members you are in touch with to see if they know about other relatives’ medical histories, or to find out if family have medical records or can request those records from their doctors.
• It’s OK if you can only give parts of someone’s cancer or health history.
• The genetic counselor will work with whatever information you can find.

Looking for health information about family members may feel overwhelming. If you begin to feel stressed or anxious, consider asking a close friend or family member to help you pull together the information you need. Many people also ask someone to come to genetic counseling appointments with them to take notes, ask questions, or give support.

Making decisions about genetic testing

After the genetic counselor considers your medical and family history, you will discuss the benefits and limitations of genetic testing.

Choosing to test

People choose genetic testing for many reasons. Some are:

• Their personal or family history of cancer suggests that an inherited genetic mutation may be the cause, and they want to make informed treatment decisions.
• There is a known cancer-related inherited genetic mutation in their family, and they’d like to reduce the risk of developing cancer.
• There are signs of high cancer risk in their family, and they worry about passing that risk on to future children.
• They were young at diagnosis and want to understand their risk before choosing treatments that might impact future fertility.

If you decide to get tested, your genetic counselor can recommend a test that is appropriate for your level of risk. Different kinds of tests include:

• Comprehensive BRCA1 and BRCA2 testing, with the option to include PALB2
• Single-gene or single-site testing for a known mutation in the family
• Gene panel testing, which looks for multiple mutations in many genes at the same time

If you already know someone in your family carries a certain genetic mutation, your genetic counselor is likely to recommend testing for just that gene. If no one in your family has a gene mutation, or you’re the first in your family to have testing, your counselor may recommend a panel test.

Your genetic counselor will then order the test you need.

• If it is a blood test, you will have your blood drawn at your hospital or local lab.
• If it is a saliva test, it can either be given to you to take home or it can be shipped to your home. At home, you can provide a saliva sample and then send it back to the lab.

Results may take several weeks to come back.

Most insurance plans cover testing, but a genetic counselor can help you navigate coverage and cost concerns.

Choosing not to test

You may decide after meeting with a genetic counselor that you don’t want to have genetic testing. This is OK. Some people decide not to get tested or to wait until later to be tested. A genetic counselor can still help you understand your cancer risk so you can make informed decisions in your care.

Next steps: when test results arrive

When your genetic counselor receives your test results, they will set up an appointment to discuss them with you. They can walk you through the report and what your results mean for you.

If the result is positive for an inherited breast cancer gene mutation, your genetic counselor will help you understand next steps, including how family members can get their own testing for the mutation.

Your counselor can also write a family letter that includes the name of the mutation, risks of hereditary cancers associated with the mutation, and information about genetic testing and counseling. This can be helpful when sharing results with family.

If you do not currently see an oncologist, your counselor will refer you to one to talk about options in more detail and make recommendations.

Your oncologist can talk with you about:

• Possible treatment options
• Increased screening
• Other steps for reducing the risk of recurrence, a new cancer, or cancer progression

If the result is negative or uncertain, your counselor will talk with you about whether you may need genetic testing in the future as more is learned and technology improves.

The experience of genetic testing and learning about the results can feel different for each person. Telling family members about your results can feel challenging for some people. Visit Sharing your inherited genetic test results for tips on how to make the conversation easier.

Learn more about genetic test results

If you have BRCA1 and BRCA2 testing, visit Inherited BRCA mutations to learn more about what results may mean for you.

Visit Understanding genetic test results to learn more about other inherited mutations, such as those in the ATM, BARD1, CHEK2, PALB2, PTEN, TP53, and other genes.

What if a genetic counselor isn't available?

Most major cancer centers and large hospitals have genetic counselors available. You can always call and ask for more information about genetic counseling.

If there are no genetic counselors available, your oncologist or another member of your healthcare team may be able to recommend one to you.

If you live in a rural area or away from large hospitals, you may have less access to genetic counselors. Try not to worry if this is true for you. There are still ways to get genetic counseling, and you can still have genetic testing.

If you can’t find a genetic counselor locally, or if traveling for counseling is difficult, visit the National Society of Genetic Counselors website to search for a genetic counselor to meet by phone, on a video call, or in person. The visit may be covered by your health insurance. Call your insurance provider to confirm.

If you choose to have testing, a saliva kit can be shipped to you, or it may be possible to coordinate a blood draw at your home. You can discuss this with your genetic counselor at the time of your visit.