Genetic counseling is a process of communication between genetics professionals and patients with the goal of providing individuals and families with information on the relevant aspects of their genetic health, available testing and management options, and support as they move toward understanding and incorporating this information into their daily lives.
Genetic counseling generally involves six steps:
- Family and medical history assessment.
- Analysis of genetic information (e.g., family history, genetic test results).
- Communication of genetic risk information.
- Education about inheritance, genetic testing, management, risk reduction, resources and research opportunities.
- Supportive counseling to facilitate informed choices and adaptation to the risk or condition.
- Follow up. This may include a written summary, provision of referrals, and/or subsequent genetic counseling session(s).
Genetic counseling for cancer risk assessment generally involves two appointments. The first is a comprehensive risk assessment and discussion of testing and management options and family issues. If genetic testing is desired, a second appointment is arranged for discussion and interpretation of test results, and a plan for follow-up. A detailed individual summary letter is provided after genetic counseling is completed.
Genetic testing is an option that is discussed during genetic counseling. There are many factors to consider when deciding whether or not to have genetic testing. Remember that the choice to be tested is a personal one. There is no right or wrong decision about being tested or not. Some potential pros and cons of testing are described below:
- Increased knowledge: Genetic testing may provide more information about risk for getting cancer and provide insight as to why cancer developed in an individual or family.
- Health care decisions: Information about cancer risk can facilitate decisions about whether certain screening tests should be considered and may help individuals decide about risk-reducing surgery. In addition, individuals who have an inherited susceptibility to cancer may be able to participate in clinical trials examining the benefits of certain medical interventions and prevention strategies.
- Information for relatives: Testing may provide information about cancer risk for children, siblings, and other family members.
- Emotional benefits: Learning the results of testing may produce a sense of psychological relief because uncertainty about cancer risk may be reduced.
- Contribution to research: Participation in genetic counseling and testing programs will help further understanding about inherited cancer. In addition, at Georgetown University we have established a family registry to learn more about hereditary breast/ovarian cancer, including the risks associated with various gene mutations such as BRCA1 and BRCA2, the possible discovery of new genes, and the best way to prevent and treat hereditary cancer. You and your relatives may be invited to participate in this program. Through the registry, you and your family members would be asked some medical questions and may be offered the opportunity to contribute a blood sample for future research.
- Difficulties in test result interpretation: It is possible that results from genetic testing will be uninformative or difficult to interpret. For example, the nature of an individual’s family history may sometimes make it more difficult to interpret test results. It is also important to remember that even complete analysis of genes can not detect every possible mutation. Also, even when a “positive” result is obtained, this does not provide a definitive answer about an individual’s risk for getting cancer or getting cancer again.
- Emotional implications: Individuals who learn their test results, especially when an alteration is identified, may feel sad, angry, or anxious. For individuals with a new diagnosis of cancer who choose to undergo genetic testing, these feelings may be more intense. It is important to consider the potential impact of genetic testing on children or other relatives, as relationships may become strained and individuals may feel guilty regarding the outcome or possible outcome of testing. Each person responds differently to information about risk and in some circumstances, psychological counseling and support may be helpful.
- Family information: The correct interpretation of test results is based on the family history provided by each participant. In gathering this history and pursuing genetic testing, it is possible that an individual may learn unanticipated information regarding adoption or non-paternity (i.e., that someone is not the biological father of a child). In addition, although we will do everything possible to protect each participant’s confidentiality, it is possible that family members may be able to infer other relatives’ genetic test results based on their cancer history or their position within the family tree.
- Discrimination: Some individuals are concerned that genetic testing may place them at risk for discrimination by health, life, and disability insurers, as well as employers. However, recently enacted federal legislation as well as state laws do provide some protection, particularly in the areas of health insurance and employment. Additional information about genetic discrimination is provided here.
Some information adapted from the National Cancer Institute's Physician Data Query.