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Understanding BRCA & HBOC > Hereditary Cancer > Genetic Counseling & Risk Assessment

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Genetic Counseling & Risk Assessment

Learn about genes and cancer, signs of hereditary cancer, genetic counseling, types of genetic tests and what results mean for you and your family.

Overview

Every person is at risk for cancer, but each person's risk is individual. Many factors affect a person’s risk, including genetics, gender, age, family history, history of hormone exposure, and others. Cancer risk assessment experts use tools to define a person’s risk to develop certain types of cancer. An important component of risk assessment estimates the chance that a gene mutation is responsible for causing the cancers in a family.

Cancer genetic counselors, geneticists, and risk assessment counselors are health care providers with expertise in cancer genetics, and training in the use of specialized tools and statistical data to estimate individual risk. They will recommend appropriate options for screening and management of cancer risk and—when cancer has already been diagnosed— for treatment or follow-up care.

The benefits derived from different screening and risk management options depend on a person's estimated cancer risk, so it is important to speak with a risk assessment expert such as a geneticist or genetic counselor to get as accurate an assessment as possible.

Genetic counseling

Our knowledge of hereditary cancer genetics is advancing at an accelerated pace. Consulting with an expert in cancer genetics is the best way to ensure receiving the most up-to-date and credible information. Cancer genetic counselors, geneticists, and risk assessment counselors are experts who can help individuals better understand their risk for hereditary cancer by:

  • Reviewing the family medical history including family members who never developed cancer
  • Assessing and explaining risk for hereditary cancers and the chance of finding a mutation through genetic testing
  • Discussing the benefits and limitations of genetic testing
  • Outlining available medical management options
  • Determining which family member is most appropriate to begin the genetic testing process in a family
  • Interpreting genetic test results and explaining what they mean for you and your relatives
  • Providing referrals to experts for follow-up screening and risk management
  • Providing referrals to support resources and research opportunities (including research on genetic testing, screening, treatment, etc.)
  • Discussing your risks and medical management options with your other health care provider(s)
  • Addressing common concerns about the privacy and confidentiality of personal genetic information

Genetic counselors help people make informed decisions about genetic testing and follow-up care. Counselors do not try to persuade people to have or avoid genetic testing a genetic counseling appointment can even benefit individuals who decide not to pursue genetic testing.

Genetic counseling appointments

Genetic counseling consists of one or more appointments with a genetics expert in-person or by telephone. The first genetic counseling session usually involves an in-depth discussion about your personal medical history and your family medical history. The genetic counselor will want to know family medical history going back three generations, including:

  • Who in the family has been diagnosed with cancer and who has not
  • Primary site of the cancers (for example, began in the breast and spread to the brain), this may require a copy of original pathology reports if available
  • Age of onset for any cancers in the family
  • Current ages of living family members and the ages at death of those who are deceased
  • Any other family health information you feel may be important or unusual

Once they evaluate your personal and family medical history, a genetic counselor will discuss other tools that may further clarify your risk for cancer, including genetic testing. A genetic counselor will not try to talk you into or out of testing but will discuss its benefits, risks, costs, and limitations.

If you decide to proceed with genetic testing, the counselor will:

  • Fill out the paperwork and assure that the proper test is ordered.
  • Work with your insurance and the testing facility to assure coverage for the test.
  • Collect either blood or a cheek swab sample for the test and submit it to the appropriate laboratory.

Once your results have returned from the lab, the counselor will schedule a post-test disclosure apppointment. This appointment is important; the genetic counselor will:

  • Interpret and explain test results and what they mean for you and your relatives
  • Provide you with your cancer risk estimates based on your test results
  • Outline appropriate risk management options
  • Provide referrals to for follow-up screening and risk management, and suggest any relevant clinical trials
  • Identify which relatives may also be at high-risk and provide you with informatioon to share with relatives
  • Address common concerns about the privacy and confidentiality of personal genetic information

 

The Gail Model

Many health care providers use a model known as the "Gail Model" to estimate a woman’s risk for breast cancer. The Gail Model works well for most women, but underestimates the risk for breast cancer in women with HBOC. It doesn't incorporate some factors associated with hereditary cancer risk:

  • It only counts first-degree female relatives.
    • Hereditary cancer can be passed down from the paternal or maternal side. Collecting family medical history from both sides is important.
    • Information about second- and third-degree relatives is significant for calculating hereditary cancer risk.
  • It doesn't take into account relatives with ovarian or other less common cancers.
    • Hereditary breast cancer risk is linked to ovarian cancer. Since ovarian cancer is rare, its presence in a family can indicate hereditary risk for breast cancer.
    • Male breast cancer, also rare, significantly increases the likelihood of hereditary cancer in the family.
  • It doesn't consider the ages of breast cancer onset.
    • Premenopausal breast cancer (occurring before age 50) in a family increases the likelihood that the cancer in the family is hereditary.
  • It doesn't consider ethnicity.
    • Certain populations, such as people of Eastern European (Ashkenazi) Jewish descent, may be at particularly high risk for hereditary breast cancer.

If your breast cancer risk is calculated using the Gail Model, and you have any family history features not accounted for by these models, your risk estimate may be inaccurate. Please consult with a cancer genetics expert to help you better understand your individual risks.

Finding a genetics specialist

Geneticists are physicians who have specialized in hereditary diseases. Certified genetic counselors are health care professionals who have had specialized training and have earned a Masters degree in genetic counseling. The National Society of Genetic Counselor website offers a searchable directory for finding a certified genetic counselor by state and specialty. (To find a genetic counselor who specializes in cancer genetics, choose "cancer" under the options "Area of Practice/Specialization"). Some healthcare facilities do not have genetic counselors on staff and for some people traveling to another facility is not possible.

Informed Medical Decisions is a network of board-certified genetic counselors providing this service by telephone. They can also help you find a qualified expert in your area for face-to-face genetic counseling if that is your preference. 

Other health care providers such as nurses or oncologists may offer genetic counseling and testing. The amount of training these health care providers have received in the area of cancer genetics may vary; consequently their ability to provide comprehensive genetic counseling and interpretation of test results may also vary. It is important to know the qualifications of the person providing your genetic counseling.

The Genetic Nursing Credentialling Commission (GNCC) offers a credentialling program for nurses that receive advance training in genetics. The GNCC sets a standard of competency and requires continuing education for nurses that are accreditted in by their program. You can view a list of credentialed nurses by state on their website (scroll down to the bottom of the page).

The National Center of Biotechnology Information, a branch of the National Institutes of Health, maintains a website that lists clinics that provide genetic counseling and testing. 

The National Cancer Institute provides a list of health care providers offering genetic counseling and testing. This tool also provides information on the certification of the health care providers listed.