BRIGHT IDEAS

What to expect at your genetic counseling appointment?

Bright Idea provided by Heather Hampel, MS. CGC

So, you’ve decided to make an appointment for cancer genetic counseling. Here is an outline of what you might expect to happen prior to, during, and after your appointment. Keep in mind that some of the details may differ slightly from one center to the next.

1. Finding a local cancer genetic counselor
The first step is to discuss this with your primary care physician or your gynecologist. They will likely know the local cancer genetic counselor and can help refer you to them. If they cannot help you, there are two websites that you can use to find a local cancer genetic counselor. The first is at the website for the National Society of Genetic Counselors. Choose the “Find a Counselor” option from the home page. The second website is the National Cancer Institute Cancer Genetic Services Directory. You may need to search for a counselor in the nearest large city since this is where most cancer genetics services tend to be located.

2. Making an appointment
You can generally just call your local cancer genetic counselor to schedule an appointment. For insurance purposes, you may need to obtain a referral from your primary care physician. The office should let you know whether or not this is necessary.

3. Prior to your appointment
a) Family History
Many centers request some family history information from you prior to your appointment. If they do not request this information prior to your appointment, they will definitely ask for it during your appointment so a little ground work will help your appointment go smoothly. They will want to know about the current age or age at death of all your children, siblings, parents, aunts, uncles (possibly cousins) and grandparents. They will also want to know if any of these relatives have had any major health problems (like cancer or heart disease) and their ages at diagnosis. If your relative has had cancer, the counselor may ask you what you know about their diagnosis and treatment (for example, were they treated with surgery and chemotherapy) and the name of the hospital at which they were diagnosed. It is important to know where the cancer started (not where it spread). This is a great time to talk to some of your older relatives who can help you to gather this information. If you know that a relative had cancer, but you’re not sure of the type, asking your family may help. If they are not sure of the type of cancer, write down the symptoms and treatment because it may help your counselor figure out what type of cancer they had. You can also request death certificates for your relatives from the state in which they died for a fee on-line at http://www.vitalchek.com. This may be slightly less expensive if you work directly with the State Department of Health. The counselor you are working with may also send you medical record release forms to be signed by your relatives with cancer or their next-of-kin. This helps them to obtain documentation of the type of cancer and the age at diagnosis. If your affected relative is deceased, this form can usually be signed by the Executor of their estate. Most importantly, do not feel bad if you cannot obtain all this information prior to your appointment. Your counselor will still be able to see you and will provide a risk assessment based on the family history information that you provide. If there is a particular diagnosis that would make a big difference in your risk assessment, they will bring it to your attention and help you to find the additional information needed.

b) Insurance
Prior to your appointment, you may want to contact your insurance company to determine whether or not your policy covers genetic counseling and/or genetic testing. The genetics office can generally provide you with the billing codes and diagnostic codes that they will be using for your visit. It is also helpful to determine whether or not you have an annual deductible for your policy that must be met before coverage begins. The counselor will explain more about the cost of genetic testing and the insurance billing during your counseling appointment but these pieces of information will be useful.

4. During your appointment
Your genetic counseling appointment will usually last 1.5 – 2 hours unless you have had some type of group educational component ahead of time. During this time, you will mainly be talking with a genetic counselor and a physician (this can be an oncologist, geneticist, surgeon or other physician with expertise in cancer genetics). Some cancer genetics visits include a physical examination but most do not at this time. If you elect to pursue genetic testing, you will likely have your blood drawn at your first visit although some centers require you to come back for a second blood draw appointment.

a) Medical History
The genetic counselor will ask you about your medical history including your gynecologic history, surgical history, general medical history, and your current cancer screening practices. If you have had cancer, they will ask about your age at diagnosis and your treatment.

b) Family History
The genetic counselor will either obtain your entire family history during your appointment or they will verify the information you provided prior to your appointment. During this discussion, the counselor may ask about more extended family members such as cousins, great aunts, great uncles and great grandparent. They will also ask about your family’s ethnic background. This is because some hereditary cancer syndromes are more common in certain ethnic groups (such as Hereditary Breast-Ovarian Cancer syndrome in Ashkenazi Jewish individuals). At this point, the counselor will let you know if he/she needs you to obtain additional information about any of your relative’s diagnoses.

c) Educational Component
Your genetic counselor will tell you about the genetics of cancer and how cancer can be inherited. Be sure to ask questions during this portion of your appointment.

d) Risk Assessment
Your genetic counselor will provide you with several risk figures during your appointment. This can be a lot of information so don’t worry about memorizing it all – you will usually receive a letter after your appointment documenting these risks. Generally, the risks provided include:

• The risk that you have a hereditary cancer syndrome. This is generally the likelihood that you will test positive for a particular cancer susceptibility gene.
  
  
• The risk that you will develop cancer. This will differ depending on whether you test positive for a cancer susceptibility gene or not. It will also depend on whether or not there is already a known cancer gene mutation in your family.
  

e) Cancer screening and prevention options
Your counselor will provide you with tailored cancer screening recommendations based on your risk level. This will also include a discussion of options available to reduce your risk such as chemoprevention (medications that reduce the risk of cancer) and surgery (risk-reducing surgery to remove the at-risk organ). If you elect to pursue genetic testing, these options are usually discussed in more detail at your result appointment since your test result may clarify your risk.

f) Genetic Testing
Your counselor will discuss the risks, benefits, and limitations of genetic testing. She/he will also discuss the costs of testing and the way billing works at the laboratory which will be performing your test. Given all of the information you have been provided, she/he will help you make a decision about whether or not testing is right for you. Many people consider the likelihood that they will test positive, whether or not the result will change their medical management, limitations of the test (the possibility of ambiguous results), and the cost and coverage of the test when making this decision. If you decide to pursue testing, you will sign an informed consent form and have your blood drawn.

g) Research
Many cancer genetics centers have research studies available and these will likely be discussed with you at some point during your interactions with genetics.

5. After your appointment
You and your referring physician will usually receive a detailed letter outlining everything that was discussed during your appointment. This often includes a copy of your family tree or description of your family history with all of the information you provided during your visit. If you pursued testing, you will generally receive your results around 3 weeks following your original appointment (some gene tests take longer than this, however). Many centers require you to attend a second in-person appointment to obtain your test results. Other centers provide test results over the phone. You will likely only see your genetic counselor one or two times during the entire genetic counseling and testing process. Remember that you are free to re-contact your genetic counselor if you have any questions or if you would like to make a follow-up appointment for further discussion of your medical management. We encourage our patients to stay in touch with us in case new genes are found or new information becomes available so we can share this information in a timely fashion. In addition, if you find that you are having trouble coping with your risk level or your genetic test results, your genetic counselor can refer you to a local therapist who can provide you with longer term support.