What is genetic counseling?
Genetic counseling is a process that includes collecting a detailed personal and family history, a risk assessment, and a discussion of genetic testing options. We will discuss the risks, benefits, and limitations of the available testing options and personalized cancer screening and risk reduction recommendations during the counseling sessions. Our program consists of 2-3 genetic counseling appointments, lasting an hour each, that go along with the option of testing. In some cases (e.g. when the mutation in the family is known, when testing is needed for an urgent medical issue, such as breast cancer surgical decision-making), the content of the first two visits may be combined.
What happens during the first visit?
At the initial appointment, we will take a detailed family history and personal medical history that includes information on all family members with our without a cancer diagnosis. The information collected includes ages of family members, genetic diseases, birth defects, and ethnic background, as well as ages at death, primary sites of cancer, and ages of cancer onset in those family members who have experienced cancer.
What happens during the second visit?
The second appointment includes a detailed discussion of:
- The likelihood that the cancers in a family are hereditary
- Which genetic test, if any, would be most appropriate
- The risks, benefits, and limitations of genetic testing
- Available screening and risk reduction options
- A blood draw, if testing is chosen
What happens during the third visit?
During the third appointment -- for those who decide to have testing – individuals receive their test results in person. This appointment includes a detailed discussion of the meaning of the results for the individual and other family members and options/recommendations for future cancer detection and risk reduction based on results.
What happens after the last visit?
Following the last appointment, we will send a detailed summary of the information discussed at all the appointments. We can also send a copy of the letter to your referring healthcare provider and to any other healthcare providers whom you designate.
Who is a candidate for genetic counseling?
Individuals who have a personal and/or family history that includes risk factors for hereditary cancers may benefit from our program. These risk factors include multiple relatives on the same side of the family with the same cancer or related cancers, cancer at unusually early ages, more than one diagnosis of cancer in the same individual, rare cancers, or a family history of a known altered cancer-predisposing gene.
What are some of the specific risk factors that may indicate the need for genetic counseling?
Individuals with a personal and/or family history of any of the following risk factors may benefit from a referral to the cancer genetic counseling program:
- Early onset breast cancer (diagnosed before age 45)
- Early-onset colon, uterine, pancreatic, diffuse gastric, or renal cancer (diagnosed before age 50)
- Ovarian/fallopian tube cancer at any age
- Male breast cancer at any age
- Medullary thyroid cancer or adrenocortical carcinoma at any age
- Cancers on the same side of the family known to be caused by a single gene mutation (e.g. breast/ovarian/pancreatic/melanoma; colon/uterine/ovarian)
- Jewish ancestry in combination with a personal or family history of breast, ovarian, or pancreatic cancer at any age
- Multiple primary cancers in one individual (e.g. bilateral breast cancer; breast/ovarian; colon/uterine; uterine/renal/thyroid or multiple primary melanomas)
- Individuals with multiple and/or early-onset gastrointestinal polyps (multiple polypsis, >15 GI polyps, or >5 harmartomatous or juvenile polyps
- Rare or unusual tumors or physical findings (e.g. sebaceous carcinoma/adenoma)
- Any Lynch syndrome-related cancer/tumor that is MSI or IHC abnormal
- Known genetic mutation (e.g. BRCA, MLH1, RET, p16)
Can I just have genetic testing without counseling?
We do not offer testing alone. Counseling is an integral part of the testing process and is essential to ensure that the correct test is ordered and for accurate result interpretation and medical management.
Why do I need to see a cancer genetics specialist?
Studies have shown a high rate of genetic test result misinterpretation among providers who do not specialize in this area. Due to the complexities of the cancer genetic counseling and testing process (including which test to order and interpreting the results correctly), we have structured around program around cancer genetics specialists, who are expert in this area.
How would I use the results of genetic counseling and testing?
This information will help to estimate a person’s true risks of developing cancer, and to develop a personalized plan for surveillance and management based on those risks. It can also be very useful to the entire family. We discuss these issues, in depth, in the counseling sessions.
Will my insurance pay for genetic counseling?
Most insurance companies cover part, if not all, of the counseling charges associated with our program. Check your insurance policy to see if you generally require a referral from your primary care physician.
How do I know what genetic tests I need, and what do they cost?
After your first session, we will determine which genetic test, if any, would be most appropriate and whom in the family (ideally) should be tested first. We will discuss the cost of that testing (range between $385-$3,200) and, at your request, will navigate the insurance authorization process for you. Letters of medical necessity are sometimes required and we will write such a letter for you after your first session, if needed.
Are there risks associated with billing these costs to my insurance company?
It does not appear that billing health insurance companies for cancer genetic counseling or testing represents a major risk. However, future coverage for life and disability insurance may be affected by such services, particularly if you are not a cancer survivor. For more information, please see Insurance Concerns: Update on Genetic Discrimination.
Is the program part of a research study or a clinical service?
Cancer genetic counseling and testing are now offered as a clinical service. However, if you are seen by our program, we will invite you to participate in our data repository, which allows us to share deidentified data with current and future studies to advance research in this area. In addition, depending upon your personal and/or family history, you may be invited to participate in other research studies that are available through our program.
What information should I bring to my first counseling session?
The more information you give us, the more accurate your counseling will be. We can collect some of the following information after your first session; however, it would be ideal for you to collect it and bring it to your first appointment.
- If you have had cancer, please bring us a copy of your pathology reports or have them faxed to our program at 203.764.8401 before your first appointment.
- We will be asking 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. Pathology reports are very helpful.
- If any of your family members have had genetic testing, please bring us a copy of the actual test results. Please also see Researching your family history @ http://yalecancercenter.org//genetics/resources.index.html.
Do I need a referral from my physician for genetic testing?
Our program does not require a referral, but your insurance may require one. Please check with your particular carrier and policy on this issue.
How long will it take me to schedule an appointment?
Appointments are typically scheduled one-to-two months ahead of time. Exceptions are made for medical emergencies.