Questions To Ask Your Genetic Counselor

Genetic counselors are medical professionals who specialize in genetics and disease and can help guide you through the genetic testing process. At your first meeting with a genetic counselor, you usually discuss your personal medical history, including whether you’ve been diagnosed with breast cancer or other cancers, and your extended family’s medical history. 

When you get your genetic test results, you have another meeting with the counselor to discuss what the findings might mean for you and your family.

If you’re unsure about what to ask a genetic counselor, here are some questions to consider.

A genetic counselor can help to determine if a cancer-related gene mutation is likely to run in your family based on the history of cancer in your family and your personal health history. Your counselor also helps you put together a family tree that includes all of your relatives affected by cancer, the type of cancer they’ve been diagnosed with, and how old they were when they were diagnosed. Although inherited mutations in the BRCA1, BRCA2, and PALB2 genes are most commonly associated with breast cancer, there are other genetic mutations that can be involved. A genetic counselor can help you understand all of the possibilities.

Based on your information, your genetic counselor can recommend the genetic test that is best for your situation. Some genetic tests look for mutations in just one gene, such as BRCA1 or BRCA2. This test can make sense for people who know a specific mutation is in their family because a relative has had genetic testing. But for most people looking for information about inherited breast cancer risk, a panel genetic test is recommended. Panel tests look for changes in the multiple genes linked to a higher risk of breast and other cancers.

If you’ve used an at-home genetic test, it’s a good idea to tell your genetic counselor which test you used and the results. At-home tests don’t check for all the mutations linked to breast cancer risk and may give you a false sense of security.

Your genetic counselor can tell you the steps involved in genetic testing. People who get genetic testing have to read and sign consent documents to make sure they understand the benefits and risks of the test. Your genetic counselor also can tell you the type of sample used: blood, saliva, or a swab of cells from inside your cheek. You can also ask the counselor how you’ll get your results and if you need to schedule any follow-up appointments.

Inherited gene mutations that increase breast cancer risk also can increase the risk of other types of cancer. Your genetic counselor can explain the risks associated with the mutations your test is looking for. Your counselor also can help you understand these risks in the context of your family’s cancer history.

For example, BRCA1 and BRCA2 mutations can increase your lifetime risk of ovarian cancer, fallopian tube cancer (cancer that affects 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 prostate and breast cancer. For women and men, there also is some increased risk of pancreatic cancer.

Your genetic counselor can help you understand the results. Some people decide they don’t want to know if they have a higher risk of other cancers.

It’s important to note that genetic testing for mutations linked to breast cancer doesn’t tell you if you’re at risk for other conditions, such as heart disease or Alzheimer’s disease. If you’d like to explore genetic testing for other diseases, talk to your genetic counselor.

Testing positive for a cancer-related mutation doesn’t mean you’ll be diagnosed with breast cancer. A positive result means you have a higher-than-average risk of developing breast cancer in your lifetime. It also means that your lifetime risk of developing other cancers might be higher, too.

Your genetic counselor can explain steps you may want to take to reduce the risk of breast cancer, including surgery to remove the breasts (prophylactic mastectomy), more frequent screening, and risk-reducing medicines such as tamoxifen.

Your genetic counselor can explain the difference between a “true negative” test result and an “uninformative negative” test result.

When you test negative for a known cancer-related mutation that a relative has tested positive for, it’s considered a true negative result. A true negative result means you don’t have a higher lifetime cancer risk than the general population.

If you test negative for a known cancer-related mutation and either no relatives have been tested or have tested negative as well, it’s considered an uninformative negative result. It’s possible that a cancer-related mutation that researchers have not yet identified runs in your family. You therefore, might still have a higher-than-average cancer risk.

Your genetic test results may show a finding called a variant of unknown significance, or VUS. Researchers don’t yet know if this variant is harmless or linked to a higher risk of breast cancer. The variant remains on a watch list as researchers collect more information to figure out if people who have it have a higher risk of cancer.

Your genetic counselor can advise you on what steps to take (if any) if you test positive for a VUS. Most VUS are eventually found to be harmless.

If you’ve been diagnosed with breast cancer and you test positive for a cancer-related mutation, it doesn’t mean that the breast cancer has a higher risk of coming back (recurrence). But it does mean that you’re at a higher-than-average risk of developing a second breast cancer, either in the same breast (if you had surgery to remove the cancer but not the whole breast) or the other breast. Depending on the mutation, you also may have a higher risk of developing a different type of cancer.

Your genetic counselor can help you understand the effect your results can have on family members.

When you test positive for a cancer-related mutation, your first-degree relatives (children, parents, siblings) also have a 50% risk of having the mutation. Extended relatives (aunts, uncles, nieces, nephews, cousins, and grandparents) are also at some risk of having the mutation.

Genetic counselors can give you talking points and resources to help guide conversations, emails, or letters — whichever way is best to contact different members of your family. Counselors also can advise on how to approach estranged or distant relatives or relatives who may not take the news well. It’s important that your relatives be aware of a cancer-related mutation in the family so they can figure out what steps to take (if any) to reduce their cancer risk.

A genetic counselor can usually help you figure out if your health insurance plan covers genetic testing and the lab that's doing your testing can work directly with you to figure out any potential out-of-pocket costs. Each health plan usually has different criteria you need to meet to qualify. Some health plans only cover certain types of genetic tests. Some testing facilities or test manufacturers may offer financial assistance if your health plan doesn’t cover the test or if you can’t afford the out-of-pocket costs.