According to the National Cancer Institute, breast cancer is the second most common cancer in women after skin cancer, in the U.S. It can occur in both men and women, although very rare in men. Each year there are about 2,300 new cases of breast cancer in men and about 230,000 new cases in women.
A woman’s lifetime risk of developing breast and/or ovarian cancer is greatly increased if she inherits a harmful gene mutation in BRCA1 or BRCA2. A harmful BRCA1 or BRCA2 mutation can be inherited from either parent. Each child of a parent who carries a mutation in one of these genes has a 50% chance (1 in 2 chances) of inheriting the mutation. The effects of mutations in BRCA1 and BRCA2 are seen even when the second copy of the gene is normal.
Risk Assessment:
The following are features that suggest hereditary cancer:
- Unusually early age of cancer onset (e.g., premenopausal breast cancer).
- Multiple primary cancers in a single individual (e.g., colorectal and endometrial cancer).
- Bilateral cancer in paired organs or multifocal disease (e.g., bilateral breast cancer or multifocal renal cancer)
- Clustering of the same type of cancer in close relatives
- Cancers occurring in multiple generations of a family
- Occurrence of rare tumors (e.g., adrenocortical carcinoma, pheochromocytoma, paraganglioma)
- Unusual presentation of cancer
- Uncommon tumor histology (e.g., medullary thyroid carcinoma)
- Rare cancers associated with birth defects (e.g., Wilms tumor and genitourinary anomalies)
- Cancer coupled with an ethnic background known to be at increased risk of hereditary cancers. Genetic testing candidates may be identified based solely on cancer history and ethnicity (e.g., Ashkenazi Jewish ethnicity and BRCA1/ BRCA2 mutations).
Genetic Counseling:
Genetic counseling is defined by the National Society of Genetic Counselors as the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease.
As part of the process of genetic education and counseling, genetic testing may be considered when the following factors are present:
- An individual's personal history (including health history, clinical characteristics, and ethnicity) and/or family history is suspicious for a genetic predisposition to cancer.
- The genetic test has sufficient sensitivity and specificity to be interpreted.
- The test will impact the individual's diagnosis, cancer management or cancer risk management, and/or help clarify risk in family members.
FAQs for Cancer Genetic Counseling
Genetic counseling is typically a covered benefit under most commercial insurance plans. If you schedule an appointment, the hospital’s insurance verification department will check if genetic counseling is a covered benefit under your insurance plan prior to the scheduled appointment date. For individuals with HMO insurance, a prior authorization is required and can be obtained from your primary physician.
Most insurance companies cover genetic testing for hereditary cancer susceptibility when it is medically recommended; each insurance company has different criteria for coverage for specific genetic syndromes. Coverage can only be determined after a full evaluation of your medical and personal history. Detailed information about insurance coverage for genetic testing and cost can be provided at the consultation. Genetic counselors are experts at understanding insurance coverage of genetic testing, and when necessary, will appeal to insurance to cover medically necessary testing and/or investigate financial assistance programs.
If you have a personal history or a close family member with of any of the following features, you are a good candidate for Genetic Counseling:
- Early onset breast, colorectal, or uterine cancer
- Ovarian cancer at any age
- Male breast cancer at any age
- Ashkenazi Jewish individuals with breast or ovarian cancer
- Several close relatives with the same type of cancer on the same side of the family
- Families with a combination of the following cancers: Colon, rectal, stomach, endometrial, uterine, kidney, ureter, pancreas, or small intestine
- Individuals or families with numerous colon polyps
- Rare tumor types
- Two or more related cancers in the same person or in close relatives. For example:
o Breast cancer and ovarian cancer
o Colorectal and endometrial cancers
o Melanoma and pancreatic cancers
The initial visit (approximately 60-90 minutes) includes a meeting with a licensed Genetic Counselor who will review your personal and family history, construct a medically focused family tree, and explain how genetic principles apply to cancer. Your detailed personal and family history will be assessed to determine the chance that the cancer in your family is hereditary, and if genetic testing for a particular hereditary cancer syndrome is recommended.
If genetic testing is not indicated or not desired, individualized cancer screening recommendations are provided for the patient and family members based upon the cancers and risk factors present in the family.
If genetic testing is recommended, you will be provided with an explanation of the specific genetic test or testing options along with the costs, coverage, benefits, risks, and limitations of genetic testing. In most cases testing can be done at the time of the initial appointment and involves a blood or saliva sample, which is sent to a laboratory for analysis. Results generally take 2-3 weeks, but certain tests may take longer.
Once results are available, the results are explained and individualized screening and prevention recommendations are made based on the test results, personal and family history. If testing is indicated for family members, your Genetic Counselor can provide resources and assistance in communicating this information you your family.
Genetic Counseling and testing can help determine if there is a genetic explanation for your cancer and if you have an elevated risk to develop additional cancers. This information often leads to extra cancer screenings and/or preventative measures. Additionally, genetic test results can assist in determining cancer risk for your family members.
Healthcare providers or clinics do not typically write orders for patients that have not established care and undergone a clinic visit. This is the case with all types of non-routine and many types of routine healthcare. Patients have many questions prior to testing, including questions relating to cost and insurance coverage. There are many genes associated with inherited cancer risk and many labs offering genetic testing for hereditary cancer; selecting the appropriate test for you history and determining which laboratories are an option based on your insurance plan requires a review of your history and insurance information. Sometimes an individual will have more than one option for genetic testing. Ordering genetic testing also involves selecting the appropriate test, obtaining insurance coverage for testing, interpreting results, and making follow up recommendations. Importantly, interpretation of your test results and follow up recommendations require a thorough evaluation of your personal and family history. It is important that individuals undergoing genetic testing be informed of possible test results and the implications of those test results prior to proceeding with genetic testing. Genetic testing is often not as straightforward as many people hope.