The Top 10 Frequently Asked Questions about genetic testing for hereditary Gastrointestinal (GI) cancers:
1. Why should I consider getting a cancer risk assessment with a genetic counselor?
People have different reasons for wanting to know their family-based cancer risk. Common reasons are:
- To understand the risk of cancer for themselves, their children, or other family members
- To discover if inheritance (or genetics) played a role in the development of their cancer or a family member’s cancer
- To get information about recommended cancer screening tests, such as mammography, breast MRI, or colonoscopy
- To make decisions about the use of chemoprevention (taking drugs to reduce the risks for cancer) or preventive surgeries
- To learn about genetic testing of genes (DNA) that are known to cause an increased risk of cancer, and to learn if genetic testing is appropriate for their family
2. What happens at a cancer risk assessment appointment?
The Hereditary Cancer Program at Washington University School of Medicine in St. Louis is staffed by a board-certified genetic counselor and board-certified clinical geneticist. Genetic counselors are healthcare professionals trained to evaluate family histories in order to identify genetic risk factors. Each genetics program may be set up differently, but our program typically consists of two genetic counseling appointments as follows:
Appointment # 1 – Family/medical history and genetic counseling:
At the initial appointment, which generally takes 1 hour, you will meet with a genetic counselor and the clinical geneticist to completely review your family history and personal medical history. After identifying your primary concerns, your discussion with the genetic counselor will include:
- General information about the genetic causes of cancer
- An estimation of your risks for specific cancers based on your age, family history, and other risk factors
- Evaluation of your family history by constructing a family tree (also known as a pedigree) and by using statistical models, if appropriate
- The likelihood that the cancers in your family are hereditary
- The availability, risks, benefits, and limitations of genetic testing
- Which genetic test, if any, would be most appropriate for you and your family
- Discussion of available cancer screening tests and risk reduction options
In cases where genetic testing seems reasonable and is desired, you may pursue testing during your initial appointment or at a follow-up appointment. Remember, the decision to do genetic testing is always a personal choice.
Appointment #2 – Results disclosure:
Those individuals who decide to have testing will have a second appointment to learn their test results in person. This appointment includes a detailed discussion of:
- The meaning of the results for you and other family members
- Options/recommendations for future cancer detection and risk reduction options based on results
3. What information should I bring to my first genetic counseling appointment?
The more information you give us, the more accurate your evaluation will be. We can collect some of the following information after your first appointment, but it would be ideal for you to collect it beforehand. We will ask you questions about your family members, particularly your brothers, sisters, parents, children, grandparents, aunts, uncles, nieces, nephews and cousins. If any of them have had cancer, please find out the primary site of the cancer and their age at diagnosis. If any of them have had pre-cancerous growths, such as colon polyps, for example, please find out information about these as well. Pathology reports and medical records are very helpful. If you have had cancer, please bring us a copy of your pathology reports or have them faxed to our program at 888-425-7946 before your first appointment. If you or one of your family members have had any genetic testing, it is important that we have a copy of the test results before your first appointment.
4. I am not sure that I want genetic testing, so why should I come for a cancer risk assessment?
If you are unsure because you have many unanswered questions, a genetic counseling appointment is the perfect opportunity to get all of your questions answered. Genetic testing is just one part of the genetic counseling evaluation. Genetic counseling is focused on determining whether an individual is at increased risk for cancer based on their personal and family histories. After our evaluation, some individuals will find that their risk is not as high as they thought. Others will realize they have a much higher risk for cancer than they suspected. Based on the cancer risk estimates we can provide, you can choose to discuss available cancer prevention and early detection methods with your healthcare providers. You will also be able to share this information with family members so that they may seek appropriate cancer risk management. Such cancer screening recommendations can be made without the use of genetic testing However, for some families, genetic testing can be helpful in determining specific cancer risks in a family.
5. What does genetic testing involve?
A genetic test almost always involves taking a blood sample, but can sometimes be performed using a saliva (spit) sample. However, depending on the type of test ordered, other tissues may be needed, such as a skin sample. The blood, saliva, or tissue is sent to specialized laboratories throughout the country (and possibly the world) for study. The results of the test are sent to the genetic counselor, who then discusses them with you. The length of time for this process varies greatly depending on the type of testing ordered, but usually takes 3-8 weeks.
6. Why do I need to see a cancer genetics specialist? Can’t I just have genetic testing without counseling?
Genetic counseling is a very important part of the testing process and is crucial to ensure that the correct test is ordered and you receive an accurate interpretation of your results. The cancer genetic counseling and testing process can be quite complex. Studies have shown that when genetic tests are ordered by providers who do not specialize in genetics, there is a high rate of misinterpretation of the genetic test results, which may result in inaccurate medical recommendations for you or your family. Due to the complexities of this process and the risk of result misinterpretation, it is recommended that individuals interested in pursuing cancer genetic testing see a cancer genetics specialist.
7. May I bring someone with me to my appointment?
Absolutely! We encourage you to bring a support person(s) with you. Many people find it very helpful to have an “extra set of ears” present during the first appointment. Family members may also benefit from the information provided, and they may be able to help with providing family history information. However, if some issues in your medical history are highly private and not known to your relatives, you may want to come alone.
8. Will my insurance cover the cost of genetic counseling and testing?
Most insurance providers cover the cost to see a genetic counselor. For our Hereditary Cancer Program specifically, most patients are expected to pay a specialist co-pay, which may be slightly higher than your typical office visit. If you have concerns about whether or not your insurance will cover the genetic counseling appointment, please feel free to contact us and we can help answer your questions and/or help with getting prior authorization from your insurance company.
Most insurance providers cover at least part of the cost of genetic testing if the testing is considered medically necessary. During your first genetic counseling appointment, we determine which genetic test, if any, would be most appropriate and who in the family would be the most ideal to test first. The cost of genetic testing is discussed at your first appointment and, depending on what testing is ordered, can range from hundreds to thousands of dollars. Most laboratories are able to give you an estimation of your out-of-pocket expense before starting your test, and upon your request, we will take care of this pre-authorization for you.
9. Are there risks to having my health insurance company find out that I have a genetic predisposition to develop cancer?
“Genetic discrimination” is the theory that insurance companies or employers could use genetic information to increase premiums, discontinue coverage or affect employability. On May 21, 2008, President George W. Bush signed the Genetic Information Non-Discrimination Act (GINA). GINA prevents health insurers in both the group and individual health insurance markets from requiring genetic testing or using genetic information to determine eligibility or establish premiums. It also prohibits employers from requiring genetic testing or using genetic information to make hiring or promotional decisions. The health insurance provisions took effect in May 2009 and employment provisions took effect in November 2009. Depending on the state in which a patient lives, there may also be state-level protection that extends to private policies.
GINA was created primarily to protect patients who have no history of cancer, but want to find out if they are at increased risk. Unfortunately, GINA does NOT provide genetic discrimination protection for a person who has a genetic condition and is manifesting clinical symptoms related to that condition. What this means is that if a person diagnosed with HNPCC or FAP develops colon cancer, their health insurers can use their personal history of colon cancer to place them in a “high-risk” category, which may result in increased premiums, and GINA cannot provide protections to keep this from happening. However, this can happen even if someone doesn’t have genetic testing and doesn’t know that they have HNPCC or FAP.
Additionally, the protections that GINA provides regarding the workplace do not apply to employers with less than 15 employees, and because the Department of Defense and Uniformed Services are bound by different codes of law and regulations than civilians, members of the United States Military, TRICARE, veterans obtaining care through the Veteran’s Administration or the Indian Health Service are not covered by GINA. Lastly, life insurance, disability, and long-term care insurance have no protection from discrimination on the federal level or in many states.
For more information, you can visit the Genetic Alliance and National Human Genome Research Institute websites.
10. How can I schedule a genetic counseling appointment?
To schedule a genetic counseling appointment with a genetic counselor at the Hereditary Cancer Program at Washington University, or if you need questions answered, you may call the genetic department at 314-454-6093.
If Washington University is too far for you to travel for genetic counseling, you may visit the website of the National Society of Genetic Counselors site and use the Find a Genetic Counselor feature to locate a genetic counselor in your area.