12 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. When you first meet with a genetic counselor, you usually discuss your personal medical history, whether you’ve been diagnosed with breast cancer or other cancers, and whether anyone on either side of your family has been diagnosed with cancer. But the meeting also is the perfect opportunity for you to ask the genetic counselor any questions you may have.
Here are 12 questions to help get you started:
How likely is it that I have a BRCA or other cancer-related mutation?
Based on the patterns in your family and your own medical history and whether it includes a cancer diagnosis, a genetic counselor can determine if a cancer-related gene mutation is likely to run in your family. 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 genes known as BRCA1, BRCA2, and PALB2 are most commonly associated with breast cancer, there are other genes that are sometimes involved. A genetic counselor can help you understand all of the possibilities.
How is this test different from other gene tests?
Genetic tests typically focus on the known BRCA1, BRCA2, and PALB2 genes, which are linked to an increased breast and ovarian cancer risk. But there are genetic tests that focus on other gene tests, such as HER2, which can play a role in the development of breast cancer. HER2 testing of a tumor can tell you whether this gene has an abnormal change that is helping the cancer grow.
Oncotype DX and Foundation One CDx tests 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 — sometimes called somatic tests or genomic tests — look for abnormal gene changes in the tumor tissue that lead 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 tests for BRCA1, BRCA2, and other mutations look for gene changes that are present in multiple members of a single family. People are born with these mutations in cells throughout their bodies. That’s why these tests can use a blood or saliva sample or a swab of cells from the inside of your cheek.
Also, if you’ve used a hereditary genetic testing kit on your own, it makes sense to let your genetic counselor know. These kits don’t always include the full range of mutations that can be associated with inherited breast cancer risk.
Which genetic test would you recommend?
Based on your information, your genetic counselor can recommend the type of genetic test that makes sense you. Some genetic tests look for mutations in just one location within a specific gene, such as BRCA1 or BRCA2. This test makes sense for people with another relative who has been diagnosed with cancer and has had genetic testing pinpointing the exact mutation already. Tests also can analyze one or more genes to look for mutations. And panel tests can check a large group of genes for any inherited mutations that increase the risk of breast and other cancers.
What’s the testing process like?
Your genetic counselor can run you through the steps involved in genetic testing. People who get genetic testing have to read and sign consent documents to ensure they understand the pros and cons of the test. Your genetic counselor also can confirm whether you can expect to give a blood sample, a saliva sample, or a swab of cells from inside your cheek. You can also ask the counselor whether you get the results over the phone or in person and if you need to schedule any follow-up appointments.
Does the test provide information about my risk for other diseases besides breast cancer?
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 the mutations your test is looking for. Your counselor 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 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 breast and prostate cancer. For women and men, there also is some increased risk of pancreatic cancer.
Your genetic counselor can help you understand the information you get based on the genes that are tested. Some people decide they don’t want to know if they’re at increased risk for certain other cancers.
It’s important to note that this type of genetic testing doesn’t tell you if you’re at risk for other conditions, such as heart disease or Alzheimer’s disease. The test is focused on hereditary cancer risk only. If you think you’d like to explore genetic testing for non-cancer diseases, talk to your genetic counselor.
Testing positive for a cancer-related mutation doesn’t confirm a breast cancer diagnosis. It also doesn’t mean that you are definitely going to be diagnosed with cancer in the future. A positive result means that you have a higher risk of developing breast cancer in your lifetime than the general population. It also means that your lifetime risk of developing other cancers might be elevated as well.
Your genetic counselor can talk you through risk-reducing steps that make sense for you, such as surgery to remove the breasts (or bilateral mastectomy), more frequent screenings with mammography and possibly breast MRI, and medications 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 blood relatives have 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.
However, if you test negative for a known cancer-related mutation and either your blood relatives have not 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 might, therefore, still have a higher-than-average cancer risk.
Is it possible for my results to be uncertain? What does that mean?
When your genetic test finds an unusual change in a gene’s DNA that hasn’t yet been linked to breast cancer risk but isn’t quite normal, it’s considered a “variant of unknown significance,” or VUS. Researchers haven’t yet confirmed whether this variant is harmless or a risk factor for breast cancer. The variant remains on a watch list as researchers collect more information to determine whether people who have it have an increased cancer risk.
Your genetic counselor can advise you on what steps to take (if any) if you test positive for a VUS. People whose genetic tests look at multiple genes are more likely to test positive for an unknown variant. It makes sense for genetic counselors to keep in touch with people who have an unknown variant in case researchers discover new information about the variant.
If I’ve already been diagnosed with breast cancer, can genetic testing help predict whether the breast cancer comes back?
If you have 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 recurrence (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 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. 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 have both breasts completely removed to reduce their risk of a future breast cancer.
How does knowing my cancer risk help my family members? How should I advise them?
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 children or future children have a 50-50 chance of inheriting the mutation. First-degree relatives (parents, brothers, and sisters) also have a 50% chance of having the mutation. Extended relatives (aunts, uncles, nieces, nephews, cousins, and grandparents) are also at some risk of having the mutation.
Genetic counselors won’t inform relatives on your behalf, but they can give you talking points to help guide conversations, emails, or letters — however it’s 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 family 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.
Does health insurance pay for the test? Can my insurance company increase my rates if I test positive?
Your genetic counselor may be able to help you figure out whether your health insurance plan covers genetic testing and confirm any out-of-pocket costs. Some health plans have different criteria you need to meet to qualify. Other health plans don’t cover the larger gene panel tests. In most cases, the laboratory conducting the test verifies your coverage and contacts you with more information about out-of-pockets costs. Some laboratories may offer financial assistance programs if your health plan doesn’t cover the test or if you can’t afford the out-of-pocket costs. Your counselor also may be able to help you figure out whether your insurance plan covers any additional care you may want if you test positive — including more frequent screenings or surgery to reduce cancer risk (such as removing both breasts).
If I get genetic testing now, do I need to get tested again in future?
Your genetic counselor can advise you on whether it makes sense for you to be tested again after a few years. The timing really depends on your results. For example, if your family has a strong cancer history but your genetic test is negative for a known cancer-related mutation, you could have a gene mutation that researchers haven’t yet discovered. As researchers identify new cancer-related mutations, it may make sense to get tested again. You may decide to get tested again in future if testing shows you have a VUS.
Your genetic counselor can advise on how to schedule a new genetic test appointment — whether you call the office or the counselor will call you — as well as the new appointment’s timing.
If any of your relatives got a genetic test before 2006 and had negative results, it could make sense for them to get tested again. The accuracy of genetic testing has improved over time.
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— Last updated on February 10, 2022, 8:08 PM