If you’re thinking about having genetic testing for an inherited genetic mutation that can increase your risk of breast cancer, scheduling an appointment with a genetic counselor is your first step. Genetic counselors are specially trained medical professionals that understand and provide information about genetics and disease.
Many hospitals and cancer centers have genetic counselors on staff, but you can sometimes meet with a genetic counselor by phone or video chat if you live in a remote area or travel is an issue. (A good resource for finding a genetic counselor who does remote appointments is the National Society of Genetic Counselors.) Another option is to meet with a physician or nurse with special training or expertise in genetics and cancer, depending on the resources available in your hospital or cancer center.
To get as much as you can out of your genetic counseling appointment, you’ll want to prepare beforehand. Below, you can learn about what information you should gather before your appointment, and what you can expect to be covered when you meet with a genetic counselor. There is also a checklist at the bottom of the page that you can use to help prepare for your genetic counseling appointment.
Information to gather before your genetic counseling appointment
- Your medical records. If you’ve had breast cancer, any other type of cancer, or an abnormal or unusual biopsy result (testing of a piece of tissue for suspected cancer), bring those medical records with you. Gather as much information as you can, including doctors’ notes, pathology reports, and treatment history.
A list of any cancers that have been diagnosed in family members, both on your mother’s and father’s side. The list should include parents and grandparents, brothers and sisters (including half-siblings), children, aunts, uncles, nieces, nephews, and cousins. If you have information about great-grandparents and your grandparents’ siblings, include that as well. List the type of cancer, the age at diagnosis, and the treatment outcome. For all relatives who are deceased due to any reason — not just cancer, list their age at death and the cause, if you know it. If you have access to death certificates, bring those along with you.
To create this list, you may wish to use an online tool such as the CDC’s My Family Health Portrait or the Complete Your Family Tree tool by Sharsheret, an organization that supports Jewish women and families at increased genetic risk for breast or ovarian cancer. It’s also fine to use pen and paper.
Do the best you can when gathering a family history. You may be able to identify a point person in the family who is likely to know this information. If your history is incomplete or you’re not close with relatives, bring whatever information you have or that you can recall. The same holds true if you’re adopted and don’t have information about your birth parents’ families.
- Reports from any cancer-related genetic testing done in other family members. This includes the BRCA1 and BRCA2 genes, PALB2, and many other genes that can be associated with increased breast cancer risk. Bringing the original lab report will ensure that your genetic counselor has the correct information. It also can help the counselor guide your testing choices and interpret your results. If you find it impossible to get the actual report, ask any relative(s) with a positive result if they can tell you what area of the gene was affected or the name of the specific mutation. If you can’t get the information, just bring what you know about their test results.
- A list of questions and concerns. Write down any questions you have for the genetic counselor and bring them to the meeting, along with a notebook and pen to jot down information. This checklist of Questions to Ask Your Genetic Counselor can help you get started.
- Verification from your insurance company that the visit is covered. Ask about coverage for genetic counseling and whether there is any supporting information you need to provide. Your genetic counselor’s office or doctor’s office also might be able to help. When you schedule your appointment, the office can give you the procedure code for genetic counseling so you can run it by your insurance company.
What to expect during your genetic counseling appointment
During your appointment with a genetic counselor, you can expect to have conversations about:
- Your personal medical history and ethnic background. Your genetic counselor is likely to ask about your overall health, any history of cancer, your reproductive history, any biopsies you may have had in the past for suspected cancer, and the results of past cancer screenings. He or she also will want to know if you are of Ashkenazi Jewish (Eastern European) descent. About 1 in 40 Ashkenazi Jewish women has a BRCA mutation.
- Your family’s cancer history. Using your list of relatives, you and your genetic counselor will build a family tree to visualize any diagnoses of cancer on both sides of your family. This will include the type of cancer, age at diagnosis, and treatment outcome.
- The likelihood of an inherited mutation that increases cancer risk. The patterns in your family, your own cancer history, and any results of relatives’ genetic testing will help your counselor determine whether an inherited mutation is likely. He or she may use a computerized tool that analyzes the information to predict the chances that you may have a cancer-related mutation.
- The value of genetic testing in your case. Based on all of this information, you can then expect conversations about the value of genetic testing for you individually. For example: Do you want this information, and are you prepared to act on it? Is this the right time in your life for you to gain this knowledge? What concerns do you have? How will this help you and your family?
- If testing makes sense, which type of test is right for you? Some tests focus on one area of a gene to look for a specific mutation (abnormal change) that has already been found in other family members with cancer. This is called single-site testing. Others look at entire genes, such as BRCA1 or BRCA2, to see if there are any mutations. There are also larger panel tests that analyze many different genes to look for inherited mutations associated with breast cancer and/or other types of cancer. Decisions are based on your family’s cancer history, whether others have undergone genetic testing, and any personal preferences you may have.
The process of genetic testing. Tests can be performed using a blood sample, a saliva sample, or a swab of cells from the inside of your cheek. Beyond that, your counselor should explain other parts of the process:
- Informed consent: Before agreeing to the test, you’ll be asked to read and sign some paperwork that lays out the possible benefits and risks of getting tested.
- Timing of the results: How long will it take to get your results? Can results be rushed if you’ve been diagnosed with cancer and want to use them to make decisions about treatment?
- How you will get the results: Will you get them over the phone or in person? What follow-up appointments will be needed?
- If you need more time to make a decision: Your counselor should tell you how soon you should come back for a second visit.
What you can do with the results. Your genetic counselor will also give you some general guidance on how you can use the results, should you decide to move forward. If you test positive for a cancer-related mutation, options may include more intensive or frequent screenings, preventive surgery (such as removing the breasts or ovaries, for example), and/or taking medications to reduce risk.
Your counselor can also explain what it means if you get a negative or uncertain result. Some patients are advised to consider risk-reduction options based on a strong family history alone. Your counselor can help you understand what your next steps might be after testing.
- The potential impact of results on your family members. You also can expect to discuss how your results might affect your relatives, especially if you test positive for a cancer-related mutation. How will you tell them, and will this be difficult for you? How are they likely to react? What might this mean for your children — or future children, if you are planning to have them? How will you get in touch with more distant relatives who might not be part of your daily life? Your counselor can talk you through some of these issues now so you’ll be prepared for them later.
Practical concerns such as insurance coverage and privacy. Your counselor also should address any concerns you might have about health insurance. In most cases, the lab conducting the test will contact your insurance company to make sure the test is covered and let you know what your out-of-pocket costs will be. Single-site testing for a mutation already found in a close relative may be less expensive than larger panel tests; some labs even offer this test for free after a family member tests positive.
With regard to privacy, the lab does not report the results 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 doesn’t apply to small companies (fewer than 15 employees) or to military insurance plans. Your counselor can explain 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.
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