The genetic counseling program at the Breast Center of New York Hospital Queens provides services to individuals and families who may be at high risk for a hereditary cancer syndrome. While the majority of cancer occurs by chance, approximately 5-10% of cancers occur because of a gene mutation that is inherited from a parent. An initial consultation will help determine the likelihood of a hereditary cancer syndrome in the individual and family and will provide an opportunity to learn about the benefits and limitations of genetic testing. Those who choose to undergo genetic testing will also have post-test genetic results counseling, at which point the Breast Center team will provide test interpretation and a management plan for early cancer detection and risk reduction. To find out if genetic counseling and testing may be appropriate for you, or if you would like to schedule an appointment, you may call (718) 670-1185 or (718) 670-2110. Genetic counseling appointments are approximately 1 ½ hours long and you will meet with the genetic counselor and one of the physicians in The Breast Center. You may need to bring a referral from your doctor if your insurance requires it. You should be prepared to discuss a 3-generation family history. Doing some research ahead of time to find out who in the family has had cancer, what type of cancer they had, how old they were when they were diagnosed, etc… will be helpful and allow for a more accurate risk assessment. It is also helpful to bring copies of radiology reports, pathology reports, and letters from your physicians.
Hereditary cancer refers to inheriting a mutation (also called a harmful change or alteration) in a gene, which causes a predisposition to certain types of cancer. Mutations of the BRCA1 and BRCA2 genes are known to be responsible for a percentage of hereditary breast and ovarian cancer. The BRCA1 and BRCA2 genes are in all individuals, regardless of gender, and they play an important role in cell growth, cell division and repair of DNA damage. Mutations in BRCA1 or BRCA2 cause the breast cancer risk to be as high as 50%-85% lifetime, and the ovarian cancer risk to be as high as 10%-46% lifetime. Individuals with a BRCA gene mutation who have already had breast cancer have an increased risk for being diagnosed with a second breast cancer. The risk for other cancers may also be increased. People who have a mutation in their BRCA1 or BRCA2 genes often inherited the mutation from either their mother or father. Any individual who has a BRCA gene mutation has a 50% chance to pass the gene mutation to each of his or her children. Once a BRCA gene is identified in a family, the family history may be used to identify which relatives are at risk for also having inherited the gene mutation. At-risk relatives should have genetic counseling and discuss the option of genetic testing. You and your family may be at risk for having a BRCA1 or BRCA2 gene mutation if the following exist in the family:
www.nsgc.org To find a genetic counselor in your area.
www.facingourrisk.org A support group for women at high risk for breast or ovarian cancer.
www.bebrightpink.org A support group for young women who have a high risk for breast or ovarian cancer.
www.cancer.gov The National Cancer Institute’s website about cancer genetics, glossaries and resources.
Question 1: Do I need genetic counseling, or can I just have the genetic testing?
Answer: Genetic counseling is an important step in the genetic testing process for a number of reasons. Genetic counseling is necessary to discuss all of the issues surrounding the testing so that you can make an informed decision about whether or not you want to be tested. Genetic counseling also ensures that the most appropriate test is offered based on the types of cancer in the family history. In addition, genetic counseling provides accurate results interpretation and along with a physician, a plan is made for your medical management.
Question 2: Will my insurance pay for the test?
Answer: Sometimes. Each insurance policy differs on if and how much of the cost of testing will be covered. The cost of the genetic test can range from a few hundred to thousands of dollars, depending on the test. Many people who choose to have genetic testing are successful in getting the test covered by their health insurance plan. In some cases medical information or letters of medical necessity must be submitted in order for the insurance company to authorize coverage. The genetic counselor and physician will help determine what information is needed and assist you in obtaining insurance authorization.
Question 3: What if I don’t have insurance?
Answer: You may be able to get the cost of testing waived, or pay for the test by way of a payment plan. The company that does the BRCA genetic testing may waive the cost of testing if your financial situation and personal or family medical history meets certain criteria.
Question 4: Is there a risk of genetic discrimination if I have genetic testing?
Answer: Maybe; however, federal and state laws are in place to prevent discrimination against individuals based on genetic test results. The Genetic Information Nondiscrimination Act (GINA) signed in 2008, prohibits group and individual health insurers from requesting or requiring an individual to take a genetic test, or using genetic test results to set eligibility status or premium or contribution amounts. GINA does not prohibit medical underwriting based on your current health status, nor does it include protection from genetic discrimination in life insurance, disability insurance or long-term-care insurance. GINA also prohibits employers from requesting, requiring or purchasing genetic information about an individual employee or family member. In addition, GINA prohibits use of genetic information by employers in employment decisions such as hiring, firing, job assignments and promotions. GINA does not apply to some small businesses, so you should check if your employer must comply with GINA. GINA does not apply to members of the United States Military, to veterans obtaining health care through the Veterans Administration or to the Indian Health Service. Some people choose to pay for genetic testing themselves, even if they have health insurance.
Question 5: How is the genetic testing done and how do I get my results?
Answer: The test is done on DNA usually obtained by a blood draw. Your blood will be sent to a laboratory authorized and approved to conduct the gene testing. The results are usually ready within 3 weeks of the blood draw; however, extenuating circumstances may delay the test results. Results are obtained in person, through the genetic counselor and physician.
Question 6: What if my test is positive?
Answer: If a mutation is found in your BRCA1 or BRCA2 genetic test, then you have hereditary breast/ovarian cancer syndrome and have increased breast, ovarian and other cancer risks. It is important that you speak with a genetic counselor and physician about these risks and the best management and screening plan to keep you in the best health possible. Breast screening guidelines may include monthly breast self-exam, mammograms and possibly MRIs once a year and breast exams with a physician twice per year. Breast self-exam should begin at age 18, and the age to begin mammograms, breast exams with a physician, and possibly MRIs is dependant on the family history, and should be discussed with your health care providers. Some women may consider removing the breasts to drastically reduce the risk of breast cancer. That surgery is called a prophylactic mastectomy. The screening that is available for ovarian cancer is somewhat limited, but may include transvaginal ultrasound and a CA-125 blood test twice per year. It is important to discuss the recommended follow-up with your physicians. Women with a BRCA1 or BRCA2 mutation are recommended to remove the ovaries and fallopian tubes once childbearing is complete or by the age of 35. This recommendation is based on the fact that ovarian cancer screening is quite limited and should be discussed in detail with your physician. Your physician will also discuss with you whether the option of chemoprevention (such as Tamoxifen) should be considered, since this medication sometimes reduces the breast cancer risk. Other family members (men and women) may be at risk of having the same gene mutation and it will be recommended that they have genetic counseling and possible testing.
Question 7: What if my test is negative?
Answer: A negative test result will provide the most helpful information for you if a gene mutation in BRCA1 or BRCA2 has already been identified in a member of your family. Someone who tests negative for a known mutation in the family has a true negative result and will not have the increased cancer risks associated with that BRCA1 or BRCA2 gene mutation. It is important to recognize that while the BRCA1 and BRCA2 genes are two major genetic contributors to hereditary breast/ovarian cancer, other genes play a role in these hereditary cancers, so a negative test result does not necessarily indicate that no hereditary risk exists. The genetic counselor and physician can discuss what your risks will be if your genetic test is negative.
Question 8: What is a variant of uncertain significance?
Answer: A “variant” result means that the gene test found a change in the BRCA1 or BRCA2 gene, but it is unclear if that gene change increases your cancer risks. Many minority ethnic backgrounds have a high incidence of “variants” identified on the genetic test. When a “variant” is the result of your DNA test, unfortunately, it is unclear if you have hereditary breast/ovarian cancer syndrome, and your genetic counselor and physician will make recommendations for your screening and management based on your personal and family histories. As time goes on, scientists and laboratories are often able to identify if the VUS is harmless and does not affect your cancer risk, or if it causes an increased cancer risk.
Question 9: I am male. Should I have genetic counseling and testing?
Answer: Yes, if you have had breast cancer, if your personal or family history are suggestive of hereditary breast/ovarian cancer syndrome, or if a family member has a BRCA1 or BRCA2 gene mutation already identified. Men with a BRCA1 or BRCA2 gene mutation have an increased breast cancer risk that may be as high as 10%. In addition, the risks for other cancers are increased including prostate cancer, pancreatic cancer and malignant melanoma. It is important to identify if an increased risk for these cancers exists, so that your healthcare providers can create the best plan for your health management and cancer screening. In addition, men and women with a BRCA gene mutation have a 50% chance to pass the gene mutation to their children, so this information is also important for the next generation.
Question 10: Do I have to agree to genetic testing if I have genetic counseling?
Answer: No. Having genetic counseling does not mean that you have to have a genetic test. Sometimes, people do not want to have genetic testing. The reasons may be numerous and may include: their concern of genetic discrimination, fear of getting a genetic test result or feeling emotionally or physically unable to address the cancer risk. Your genetic counselor and physician will discuss with you the benefits and limitations of genetic testing for you specifically. If you choose not to have a genetic test, we may be able to estimate your cancer risks based on your personal and family histories, and a cancer screening plan can still be recommended for you.