If you’re thinking about genetic testing — testing for gene mutations that run in families and can increase breast cancer risk — you’ll want to meet with a genetic counselor. Genetic counselors are medical professionals specially trained to understand and provide information about genetics and disease.
Many hospitals and cancer centers have genetic counselors on staff. If you live in a remote area or travel is an issue, meeting with a genetic counselor by phone or video chat is sometimes an option. (The National Society of Genetic Counselors is a good resource for finding someone who provides remote genetic counseling).
In some hospitals or cancer centers, another option is working with a physician or nurse who has special training or expertise in genetics and cancer. When we use the term “genetic counselor,” we are including these healthcare professionals.
You can expect your genetic counselor to ask questions about your personal medical history, whether you’ve had breast cancer or other cancers, and whether any family members (on your mother’s and father’s side) have had cancer, and if so, what types and at what ages. You may find it helpful to consult our checklist on Genetic Counseling: How to Prepare and What to Expect.
This meeting is also your opportunity to ask questions. Below is a list of 12 suggestions to get you started. Whatever questions you have, be sure to write them down and bring them with you to the appointment, or use our checklist at the bottom of this page.
1. How likely is it that I have a BRCA or other cancer-related mutation?
Based on the patterns in your family history, and the specifics of your diagnosis if you have (or had) cancer, your counselor can tell you whether he or she thinks the cancer might be due to a gene mutation that runs in your family. A mutation is a “mistake” in your DNA, which contains your unique genetic code and is inherited from your parents.
Together, you and your genetic counselor will build a family tree showing all of the relatives affected by cancer, the type of cancer, and their age at diagnosis. Although inherited mutations in genes known as BRCA1, BRCA2, and PALB2 are most commonly associated with breast cancer, there are other genes that are sometimes involved. Ask your counselor to help you understand all of the possibilities.
2. How is this test different from the other gene tests I’ve already had, such as HER2/neu?
If you (or a relative) has had breast cancer, you might have heard the doctor talk about other “gene tests.” For example, HER2 (human epidermal growth factor receptor 2) is a gene that can play a role in the development of breast cancer. HER2 testing of the tumor can tell you whether or not this gene has an abnormal change that is helping the cancer grow. Other tests such as Oncotype DX and Foundation One CDx analyze the activity of multiple genes that can affect how a cancer is likely to behave and respond to treatment. The results can help guide treatment choices.
These tests are sometimes called somatic or genomic tests. They are done on the tumor tissue itself to look for abnormal gene changes that led to the development of cancer. These mutations happen on their own over time; they don’t run in families and you can’t pass them on to your children.
In contrast, hereditary testing for BRCA1, BRCA2, and other mutations looks for gene changes that run in families. People are born with these mutations in cells throughout their bodies. That’s why this type of testing is done using cells in the blood, saliva, or from the inside of your cheek.
Your counselor can further explain the difference.
Also, if you’ve done hereditary genetic testing on your own, using a kit you purchased, discuss this with your counselor. These tests don’t always include the full range of mutations that can be associated with inherited breast cancer risk.
3. Which genetic test would you recommend?
There are many different types of genetic tests. Some look at just one location within a specific gene, such as BRCA1 or BRCA2, to see if there is a mutation. This might make sense if another relative (or relatives) with cancer already had testing that pinpointed exactly where his or her mutation was. Other tests can analyze one or more entire genes to look for mutations anywhere on the gene. Still other tests, known as panel tests, check a large group of genes for any inherited mutations that increase the risk of breast cancer and other cancers.
Your genetic counselor can help you figure out which test makes the most sense for you, based on your family history and personal preferences.
4. What’s the testing process like?
Ask your genetic counselor to run through the steps involved in genetic testing. You’ll need to read and sign consent documents to ensure you understand the pros and cons of testing. Find out how the test will be done — will you give a blood sample, a saliva sample, or a swab of cells from inside your cheek? Ask how and when you will get the results (over the phone? in person?), and what follow-up appointments might be needed.
5. Will the test provide information about my risk for other diseases besides breast cancer?
In many cases, yes. Inherited gene mutations that increase breast cancer risk also can increase risk for other types of cancer. Your genetic counselor can explain the risk levels associated with whatever mutations you’re being tested for. He or she also can help you understand these risks in light of your family’s cancer history.
For example, BRCA1 and BRCA2 mutations can increase your lifetime risk of ovarian cancer, fallopian tube cancer (cancer affecting the tubes that connect the ovaries to the uterus), and peritoneal cancer (cancer that starts in the tissue that lines the abdominal wall and covers organs in the abdomen). For men, BRCA mutations can increase the risk of breast and prostate cancer. For women and men, there is also some increased risk of pancreatic cancer.
Ask your genetic counselor to run through whatever genes are being tested so you understand the information you may be getting. Some people decide they don't want to know if they’re at increased risk for certain other cancers.
This form of genetic testing won’t tell you if you’re at risk for other conditions that sometimes run in families, such as heart disease or Alzheimer’s disease. It’s focused on hereditary cancer risk only. If you think you’re also a candidate for genetic testing for non-cancer diseases, talk to your genetic counselor.
6. If I haven’t had cancer and I test positive for a breast cancer-related mutation, does that mean I have cancer? What does it mean?
Testing positive for a harmful mutation does not mean you have breast cancer. It also doesn't mean that you will definitely get cancer. It means that your risk of developing breast cancer over the course of your lifetime is higher than it is for men or women in general. (Your lifetime risk of other cancers might be elevated as well.)
Ask your genetic counselor to explain what your level of risk is, based on your results and your family’s cancer history. He or she also can talk you through strategies for reducing your risk and explain their pros and cons. Options include preventive surgery (such as removal of the breasts, or bilateral mastectomy), more frequent screenings with mammography and possibly breast MRI, and/or taking a risk-reducing medication such as tamoxifen.
Testing positive also means that there’s a 50-50 chance your children inherited the mutation. Your parents and any full siblings (sisters or brothers with the same mom and dad as you) also have a 50% chance of having the mutation. Extended relatives such as aunts, uncles, nieces, nephews, cousins, and grandparents, are also at some risk of having the mutation. Your counselor can help you understand these risks and what to do with this information.
7. If I never had breast cancer and my genetic test results are negative, does that mean I’m not at higher-than-average risk for breast cancer?
Not necessarily. Ask your genetic counselor to explain the difference between a “true negative” and an “uninformative negative” result.
The basics: If you have close blood relatives who had breast cancer (or other cancers) and tested positive for a BRCA mutation or other inherited mutation, it’s very likely that this mutation is causing the cancer in your family. If you test negative for it, this is called a “true negative” result, meaning your lifetime risk is usually not considered to be higher than that of men or women in general.
If you don't know which mutation is causing the cancer in your family, though, testing negative for inherited cancer-related mutations is not as certain. It could be there is some other mutation running in your family that researchers haven’t discovered yet. So you might still be considered at higher-than-average risk based on your family’s cancer history alone.
Ask your genetic counselor to help you understand what your results mean if you test negative.
8. Is it possible that my results could come back uncertain? What does that mean?
The short answer is yes, and your genetic counselor can explain. Sometimes, genetic testing finds a change in a gene’s DNA that isn’t quite normal but also hasn’t been linked to a higher risk of breast cancer. This is technically called a “variant of unknown significance,” or VUS. Researchers haven’t yet confirmed whether this variant is a harmless change or a risk factor for cancer. The variant remains on a “watch list” as researchers collect more information to determine whether or not people who have it are at increased risk.
Ask your genetic counselor what he or she would recommend if you have a variant of unknown significance. The more genes you have tested, the more likely it is to find a VUS. You — and possibly other relatives, if they have the same VUS — might need to be followed in case new information about it is discovered.
9. If I’ve already had breast cancer, will genetic testing help predict my risk of recurrence?
In short, no. If you test positive for a cancer-related mutation, it doesn’t mean that your original breast cancer has a higher risk of recurring (coming back). But it does mean that you’re at higher-than-average risk of developing a second breast cancer, either in the same breast (if you just had the cancer removed, and not the entire breast) or the other breast. Depending on the mutation, you may be considered at higher risk of developing a different type of cancer. For example, BRCA mutations can raise your lifetime risk of developing ovarian cancer.
A positive test result may influence treatment decisions. For example, some women decide to undergo a bilateral mastectomy, or complete removal of both breasts, to reduce their risk of a future breast cancer as much as possible.
Ask your genetic counselor to explain your options if you test positive for a cancer-related mutation after a breast cancer diagnosis. Your family’s cancer history also has to be taken into account.
10. How will knowing this information help my family members? How should I advise them?
Your genetic counselor can help you understand the potential impact of your results on family members. If you test positive for a cancer-related mutation, there’s a 50% chance your children (if you have any) inherited the mutation. Other first-degree relatives (parents, brothers, sisters) also have a 50-50 chance of having it. Other relatives in your extended family are also at risk.
Your counselor is a great resource for ideas about how to share your results with family members, especially if you test positive. He or she has advised many families that have faced the challenge of sharing information about genetic test results. For example, if you’re not close with certain relatives or you think they won’t take the news well, you and your genetic counselor can talk through strategies for communicating with them.
Although your counselor won’t inform relatives on your behalf, he or she can give you talking points to guide the conversation — or an email or letter, if you prefer to notify them in writing. Relatives need to know that there is a cancer-related mutation in the family that could affect them. They too may wish to meet with a genetic counselor — maybe even your counselor, if they live nearby — and consider genetic testing. If they have the mutation, they can take steps to reduce their risk of developing cancer in the future.
11. Does health insurance pay for the test? Will my insurance company up my rates if I test positive? What about life insurance?
Ask your genetics counselor if your health insurance plan is likely to cover the test and what your out-of-pocket costs will be. Some plans have different criteria you need to meet to qualify, and some won’t cover the larger gene panel tests. In most cases, the lab conducting the test will verify your coverage and contact you with more information about out-of-pockets costs. Some offer financial assistance programs if you’re not covered or can’t afford the costs. Ask your counselor if your insurance plan will cover any additional care you may want if you test positive (such as stepped-up screenings or preventive surgery).
While your results will be kept on file at the lab and in your medical record, they won’t be reported to your insurance plan. Thanks to the Genetic Information Nondiscrimination Act, a plan cannot raise your rates or refuse to insure you based on the fact that you had the test. However, this law does not apply to small companies (fewer than 15 employees) or to military insurance plans. Ask your counselor what to expect based on the insurance you have. If you don’t have health insurance or you have a plan with high out-of-pocket costs, your counselor can help you figure out your options before testing or refer you to a financial navigator.
Testing positive for a cancer-related mutation can affect your ability to purchase life insurance, disability insurance, and long-term care insurance. Your genetic counselor can guide you to think about what other types of insurance you might want to secure before you move ahead.
12. If I have this testing done now, will I need to repeat it in the future?
The answer really depends on your results, and your genetic counselor can talk you through the possibilities. For example, if there is a strong cancer history in your family but no specific mutation is found, it could be that researchers haven't yet discovered the mutation that is running in your family. As research continues and new cancer-related mutations are identified, you may wish to have testing again in the future. The same holds true if testing reveals that you have a variant of unknown significance (VUS) — an unusual gene change that hasn’t yet been linked to cancer risk.
Ask your counselor about any situations in which you’d need to stay in touch with him or her in case future testing makes sense. Find out if it would be up to you to contact the office, and if so, how frequently — or if the office will reach out to you periodically.
If you have relatives who had genetic testing several years ago and had negative results, it could make sense for them to retest. The accuracy of testing has improved over the years. Again, talk to your counselor.
Learn more about Genetic Testing.
How to use our checklists
Use this checklist to prepare for your upcoming appointment with a genetic counselor:
- To save the checklist and use it on your smartphone or tablet or to print it out, click "Save and Resume Later" and then click the URL. You can also email it to yourself, family, or friends.
Written by: Kristine Conner, contributing writer
This content was developed with contributions from the following experts:
Cristina Nixon, MS, LCGC, a licensed certified genetic counselor with the Cancer Risk Assessment and Genetics Program at Main Line Health
Peggy Cottrell, MS, LCGC, a licensed certified genetic counselor at Holy Name Medical Center, and the Genetics Program Coordinator at Sharsheret
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