Genetic Counseling: An Overview

It has long been recognized that certain disorders, such as cancer, can run through families. With the discovery of various genetic causes of cancer, family members are often able to obtain information about their risk of developing the particular type of cancer that is prevalent in their relatives. Therefore, individuals in such families may benefit from genetic counseling. Genetic counseling involves meeting with a health care professional who is qualified to evaluate family history of disease and assess risk to the individual and other family members. Specially trained genetic counselors work in major university medical centers, private hospitals and clinics, and managed care settings, among other locations.

The Appointment

A genetic counseling appointment typically lasts one to two hours. It involves an exchange of information between the individual, possible family members and the counselor.The individual provides details about three generations of family history, including the following information:

Which relatives have had cancer;
What types of cancer they have had;
How old they were when they were diagnosed with cancer;
Which relatives have not had cancer;
How old each person was when he or she died; and
What the causes of death were.

Information is collected about both the mother’s and the father’s sides of the family, even if the particular type of cancer seems to be limited to a particular gender. For example, males do not develop ovarian cancer, but it is important to know if a man’s mother or sister had ovarian cancer, as this could impact his daughters’ risks. The genetic counselor then reviews the family history and answers the following questions:

How do genes contribute to cancer?
How is cancer risk inherited?
What is the individual’s risk of cancer based on hereditary factors?
What are the options for managing cancer risk?
Might genetic testing be appropriate for this individual?

Deciding on Genetic Testing

Some people who seek genetic counseling choose to have genetic testing, while others prefer to simply discuss the information. Genetic testing is a very personal decision, but it can impact an entire family. Since genetic material is inherited, testing a particular individual can potentially provide information about that person’s parents, siblings, grandparents, aunts, uncles and cousins. While an entire family may not necessarily agree about whether or not genetic testing is appropriate, it is usually recommended that at least close relatives discuss their feelings with one another.

Individuals often consider how genetic test results will influence their approach to the medical management of cancer risk.However, it is important to recognize that different people will experience different emotional responses to testing, as well. Some people feel fear or anxiety and express hopelessness when receiving a positive result. They may feel guilt at having potentially passed an increased risk for cancer to their children, or anger at having inherited it from a parent in the first place. Others may communicate a sense of empowerment and feel that knowledge enables them to better care for themselves. They may also feel relief from uncertainty, as a positive result better defines their specific risk.

Negative results can provide relief and happiness, and individuals may be grateful that they didn’t pass the genetic alteration to future generations. However, negative results can also lead to a false sense of security. Occasionally, an individual interprets a negative result as meaning that he or she will never get cancer, whereas a negative result usually lowers risk compared to that of the general population. Individuals who receive a negative result may also experience "survivor’s guilt", which is guilt over having been spared when other family members were not.

Another concern expressed by individuals considering genetic testing is fear about insurance discrimination. Currently, there are federal laws that protect against discrimination for people covered under group health insurance plans. Many states have similar laws, as well. However, there are no laws protecting people with individual health insurance plans, and the laws do not protect against discrimination with life insurance and disability insurance.

Genetic counseling is a way for individuals with a personal or family history of cancer to discuss concerns, such as the ones outlined above, with a qualified health care professional. Genetic counselors help individuals and families to better understand hereditary risk for cancer and to adjust to concerns about that risk.They also assist in making decisions about genetic testing and medical management. To locate a genetic counselor, please contact MACGN toll free at 1-877-880-6188.

Jennifer E. Sollenberger, M.S.