How To Prepare for Genetic Counseling

How To Prepare for Genetic Counseling

To get as much as you can out of your genetic counseling appointment, it’s best to prepare beforehand.
 

If you’re thinking about getting genetic testing for an inherited gene mutation that can increase your breast cancer risk, the best first step to take is to schedule an appointment with a genetic counselor. Genetic counselors are specially trained medical professionals who can provide you with information about genetics and disease. 

Many hospitals and cancer centers have genetic counselors on staff. You can sometimes meet with a genetic counselor by phone or online video if you live in a remote area and it’s difficult for you to travel. A good resource for finding a genetic counselor who offers virtual appointments is the National Society of Genetic Counselors

Another option is to meet with a doctor or nurse who specializes 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, it’s best to prepare beforehand. 

 

What to bring with you to your genetic counseling appointment

Here is some information you can collect in advance and take with you to your genetic counseling appointment:

Your medical records

Take your complete medical record and everything related to a cancer diagnosis. Gather as much information as you can, including doctors’ notes, biopsy results, pathology reports, and treatment history.

A list of any cancers that run in your family 

Make a list of both sides of your family. Include your parents and grandparents, and if possible, grandparents’ siblings, great-grandparents, brothers and sisters (including half-siblings), children, aunts, uncles, nieces, nephews, and cousins. List the type of cancer each relative has been diagnosed with, their age when they were diagnosed, and the treatment outcomes. Note which relatives have died for any reason — not just cancer — and include how old they were when they died as well as the cause of death, if you know it. Take any death certificates you may have with you.

To create this list, you may wish to use an online tool, such as the Centers for Disease Control and Prevention’s (CDC) My Family Health Portrait or Sharsheret’s Complete Your Family Tree. Sharsheret is a national non-profit organization that supports Jewish women and families with an increased genetic risk of developing breast cancer or ovarian cancer.

You may be able to identify a point person in the family who can help you collect your family’s medical history. But if you can’t, take whatever information you can, even if you can only collect a few details either because you’re not close with relatives or you’re adopted and don’t have information about your birth parents’ families.

Family members’ genetic test results 

Taking the original lab reports ensures that your genetic counselor has the correct clinical information. It also can help the counselor guide your testing choices and interpret your results. If getting the actual report is not possible, you can try asking any relatives with positive test results for the name of the specific mutation or gene that was affected. Share what you can about their test results with the counselor.

A list of questions and concerns 

Write down any questions you have for the genetic counselor and take them to the meeting, along with a notebook and pen to jot down information. To help you get started, here are 12 Questions to Ask Your Genetic Counselor

Verification from your health insurance plan that the visit is covered

Check with your health insurance plan to confirm whether they cover genetic counseling and whether there is any supporting information you need to provide. Your genetic counselor’s office or doctor’s office also may 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 health insurance company.

 

What you can expect to discuss with your genetic counselor

During your appointment with a genetic counselor, you can expect to have conversations about the following:

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’ve had for suspected cancer, and the results of past cancer screenings. Your counselor also is likely to ask 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 the information you compiled, you and your genetic counselor can build a family tree to visualize any diagnoses of cancer on both sides of your family. These family trees typically include the type of cancer each relative was diagnosed with, their age when they were diagnosed, and the treatment outcome.

The likelihood you have an inherited mutation that increases cancer risk 

Your counselor looks at the patterns in your family, your own medical history (and whether it includes a cancer diagnosis), and any genetic testing results that may be available from your relatives to determine if an inherited mutation is likely. Your counselor may use a computerized tool to predict how likely it is for you to have a cancer-related mutation.

The value of genetic testing in your case 

Your counselor may ask you a few questions to see how valuable genetic testing is for you personally. Some questions include whether you want your genetic testing results and whether you are prepared to take next steps. Your counselor has to make sure that the time is right for you to know whether you have an increased cancer risk. It also makes sense to share any concerns you have and determine how knowing your results can help you and your family.

Which type of genetic test is right for you

Some genetic tests focus on one area of a gene to look for a specific mutation (or abnormal change) that has already been found in other family members with cancer. This is called single-site testing. Other tests 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 linked to breast cancer or other types of cancer. The test you get depends on your family’s cancer history, whether any of your relatives have gotten genetic testing, and your personal preferences.

The genetic testing process 

Using a blood sample, a saliva sample, or a swab of cells from the inside of your cheek, a genetic test analyzes genes for any mutations. Before getting tested, you’re asked to read and sign some paperwork (called informed consent) that explains the possible benefits and risks of getting tested. 

Commercial laboratories can take several weeks to deliver your results. Talk to your genetic counselor if you have been diagnosed with breast cancer and need your results sooner so you can make decisions about treatment. Your counselor can tell you whether you can expect to get your results over the phone or in person and whether it makes sense to schedule a follow-up appointment. Your counselor also can advise on how much time it’s best to take before coming back for a second visit should you need more time to make a decision.

What you can do with the results

Your genetic counselor can give you some general guidance on how you can use your results, should you decide to get tested. If you test positive for a cancer-related mutation, your options may include more intensive or frequent screenings, preventive surgery (such as removing the breasts or ovaries), or taking medications to reduce your cancer risk. 

Your counselor can also explain what it means if you get a negative or uncertain result. Some patients are advised to consider options to reduce cancer risk based on a strong family history alone. Your counselor can help you understand what your next steps might be after being tested. 

How your results may affect your family

If you test positive for a cancer-related mutation, you can expect to discuss how your results can affect your relatives. Your genetic counselor can advise you on how to tell your family members and talk through how they are likely to react. 

Your counselor can also advise you on what your results might mean for your children — or future children, if you are planning to have any. You also can talk through how you might get in touch with more distant relatives to tell them about your results. 

Insurance coverage and privacy concerns

Your genetic counselor should address any concerns you may have about health insurance. The laboratory conducting the test typically contacts the insurance company to find out whether the test is covered and to confirm any out-of-pocket costs. Single-site testing for a mutation that a close relative has already tested positive for may be less expensive than larger panel tests; some laboratories even offer this test for free after a family member tests positive.

Laboratories do not report genetic test results to health insurance companies. Thanks to the Genetic Information Nondiscrimination Act (GINA), a health plan cannot raise your rates or refuse to insure you based on a positive test result. But it’s important to note that GINA doesn’t apply to small companies with fewer than 15 employees or to the U.S. military. 

Your counselor can explain what to expect based on the health insurance plan 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 you get genetic 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 give you advice about what other types of insurance you may want to secure before you get genetic testing.

Reviewed by 2 medical advisers
 
Cristina Nixon, MS, LCGC
Main Line Health, Philadelphia, PA
Peggy Cottrell, MS, LCGC
Sharsheret, Teaneck, NJ
Learn more about our advisory board

— Last updated on July 26, 2022, 8:00 PM