Components of a Cancer Genetic Counseling Session
There are several published guidelines that describe the information that should be covered in genetic counseling for hereditary cancer (ASCO 2010, NSGC 2012, NCCN 2020).
The components of a typical cancer genetic counseling session include:
- Setting a mutual agenda for the session
- Addressing psychosocial issues and emotional concerns
- Taking a detailed medical and family history
- Providing risk assessment and risk counseling
- Directing an in-depth consent process for genetic testing, when applicable
- Disclosing results of genetic testing, when applicable
- Determining and communicating screening and management plans
- Summarizing and planning for follow up
Education about the etiology of cancer should be integrated into each of the components as appropriate for the patient’s level of knowledge and needs.
The order and timing of this process varies by patient needs and indication for genetic counseling.
1. Setting a mutual agenda for the session
Contracting involves a conversation with the patient about what the provider plans to discuss, as well as identifying the patient’s expectations of the session and key questions or concerns. The result is a shared agenda for the session. Contracting allows the provider to address the patient’s concerns, reduces misconceptions and fears about what is going to happen during the session and allows the patient to better attend to the information provided.
2. Addressing psychosocial issues and emotional concerns
It is important to assess and address the patient’s personal beliefs, feelings and emotional reactions, as well as his/her emotional supports and coping ability, throughout the session. Remember that genetic testing raises sensitive issues that may affect the patient’s sense of overall health and well-being. The information also has implications for family members.
Examples of topics to explore with the patient:
- Perceptions of health and fears about developing and dying from cancer
- Unresolved grief about loss of family members to cancer
- Meaning for relatives, especially children
- Understanding and perception of risks
- Beliefs about causes and control of cancer
- Feelings about how genetic counseling and testing might change things for the patient, (e.g., change in management or lifestyle)
3. Taking a detailed medical and family history
Information gathered from the patient’s family and medical history is crucial to allow for accurate risk assessment.
A family history provides information about:
- Genetic contribution to cancer risk
- Appropriate testing strategy
- Patient’s support systems and relationship with other family members
- Patient’s experience with and understanding about the causes of cancer
Obtaining a detailed medical history helps the provider:
- Identify patients who have signs of a predisposition to cancer
- Assess patients’ overall approach to health and compliance with screening recommendations
4. Providing risk assessment and risk counseling
Cancer risk assessment involves:
- Estimating the risk of developing cancer
- Evaluating whether the pattern of cancer in the family and the patient’s history suggest increased familial risk or a hereditary cancer syndrome
- Discussing whether genetic testing is indicated and available
- Using risk assessment models and clinical experience to evaluate the probability of a mutation in the family that causes a known hereditary cancer syndrome
Effective communication about risk with patients requires care and attention. It includes:
- Understanding the patient’s perception of risk, before and after risk assessment
- Using terms that are understandable
- Many patients find natural numbers (e.g., one person out of 20) more accessible than percentages or fractions
- Putting risk into perspective
- Comparing a 20 percent lifetime risk to the general population risk of 5 percent
- Explaining the meaning of lifetime risk and comparing it to immediate risk
- Clarifying that the risk to develop cancer is not the same as the risk of dying from cancer
- Evaluating and responding to psychological reactions to risk
5. Directing an in-depth consent process for genetic testing, when applicable
If the personal and/or family history is suggestive of a hereditary cancer syndrome for which genetic testing is available, there should be a detailed conversation about the benefits, limitations, possible outcomes and associated implications and process of testing before a test is ordered. It is generally recommended that providers allow the patient time to consider pros and cons and ask additional questions. For more information, consult Basic Elements of Informed Consent for Cancer Susceptibility Testing by the American Society of Clinical Oncology.
Key points to discuss with the patient include:
- Explanation of possible results: positive, negative and variants of unknown significance
- How such results would be interpreted based on the patient’s family and medical history
- Follow-up testing plan if initial results are negative (if applicable)
- Potential implications of genetic test results, including implications for relatives
- Management options without genetic test results compared to recommendations associated with potential test results
- Practical aspects of genetic testing, such as cost and turnaround time
- Legal and social implications, such as privacy concerns and legal protections against health insurance and employment discrimination
- Timing of and plan for disclosure of results in the post-test counseling session
6. Disclosing results of genetic testing, when applicable
Disclosure occurs in a follow-up session. This should be done in a sensitive manner, taking time to assess psychological status, answer questions and provide support resources. Patient reactions may be varied and unexpected, and may change over time.
The post-test counseling session typically involves discussion of:
- Test implications, including (as appropriate) management, risk reduction, screening options, prevention methods, lifestyle modifications, implications for relatives, referral to clinical trials and support services
- Emotional impact of results and referrals for those who need additional psychosocial support
- Dissemination plans, such as who should receive copies of results and how to discuss the results with relatives
- Provision of referrals to specialists, as needed
Receiving genetic test results can be a highly emotional event for some patients. The patient may have a great deal of fear and anxiety leading up to results disclosure. The patient may also have a strong reaction to receiving results that are contrary to what he or she expected, even if the result is “good news.”
7. Determining and communicating screening and management plans
Determine and discuss screening and management recommendations based on the risk assessment and result from genetic testing or histology testing, if applicable. A personalized risk assessment may increase the saliency of recommendations and increase compliance.
Anticipate, however, that some patients at increased risk may balk at increased or early screening or risk-reduction efforts because of attempts to deny risk, access issues and/or fear or uncertainty about their ability to control risk for cancer. Some patients at reduced risk may find it difficult to accept a standard screening recommendation if they continue to perceive themselves at increased risk.
8. Summarizing and planning for follow up
At the end of the session it is important to summarize the information and make a clear plan for follow up, including a plan for providing relevant information to family members. This is also a good time to provide the patient with resources, such as educational materials, referrals to other health providers (if indicated) and contact information for support organizations.
American Society of Clinical Oncology. (2015) ASCO Policy Statement Update: Genetic and Genomic Testing for Cancer Susceptibility. Journal of Clinical Oncology 33 (31): 3660-3667.
National Comprehensive Cancer Network. Genetic/Familial High Risk Assessment: Breast, Ovarian and Pancreatic (v.1.2020); and Genetic/Familial High Risk Assessment: Colorectal (v.3.2019). (Free registration required for access)
Schneider KA. (2012) Counseling about Cancer: Strategies for Genetic Counseling. 3rd edition. New York: John Wiley & Sons, Inc.
Developed through collaboration between the National Coalition for Health Professional Education in Genetics and the American Medical Association.
Updated January 2020