Education and Counseling About Risk/Risk Communication
Specific clinical programs for risk management may be offered to persons with an increased genetic risk of cancer. These programs may differ from those offered to persons of average risk in several ways: screening may be initiated at an earlier age or involve shorter screening intervals; screening strategies not in routine use, such as screening for ovarian cancer, may be offered; and interventions to reduce cancer risk, such as risk-reducing surgery, may be offered. Current recommendations are summarized in the PDQ summaries addressing the genetics of specific cancers.
The goal of genetic education and counseling is to help individuals understand their personal risk status, their options for cancer risk management, and to explore feelings regarding their personal risk status. Counseling focuses on obtaining and giving information, promoting autonomous decision making, and facilitating informed consent if genetic testing is pursued.
Optimally, education and counseling about cancer risk includes providing the following information:
- Purpose, strengths, and limitations of cancer risk assessment.
- Basic genetics and patterns of inheritance.
- Genetic basis of cancer.
- Clinical features of relevant hereditary cancer syndromes.
- Evidence of a hereditary cancer syndrome from the consultand's personal and family history.
- Options for clarifying cancer risk, including genetic testing, if indicated.
- Options available for risk management, including data (or lack of data) on the efficacy of different measures for early detection and risk reduction.
- Signs and symptoms of cancer.
When a clinically valid genetic test is available, education and counseling for genetic testing typically includes the following:
- Risk of having a mutation and patterns of transmission.
- Alternatives to genetic testing.
- Risks, benefits and limitations of genetic testing, including psychological and discriminatory risks.
- Possible test outcomes, including likelihood of uninformative results and identifying variants of uncertain significance.
- Sensitivity of the genetic test, including the techniques utilized to perform the test and their associated limitations.
- Health care management options based on possible test results.
- Implications for children and other family members based on pattern of transmission.
- Dissemination of risk and genetic information to family members.
- Cost associated with testing, counseling, medical management, and options for insurance coverage.
- How genetic information and genetic test results will be recorded in the medical record.
- Specimen storage and reuse, if applicable.
If a second session is held to disclose and interpret genetic test results, education and counseling focuses on the following:
- Interpretation of test results.
- Discussion of further testing that may clarify risk (e.g., large rearrangement testing and testing the other genes based on the patient's differential cancer syndrome list).
- Assessment of the emotional and behavioral responses to genetic test results.
- Recommendations for coping and communication strategies to address issues related to cancer risk.
- Cancer risk management recommendations.
- Risk analysis and dissemination of risk results to family members.
The process of counseling may require more than one visit to address medical, genetic testing, and psychosocial support issues. Additional case-related preparation time is spent before and after the consultation sessions to obtain and review medical records, complete case documentation, seek information about differential diagnoses, identify appropriate laboratories for genetic tests, find patient support groups, research resources, and communicate with or refer to other specialists.
Information about inherited risk of cancer is growing rapidly. Many of the issues discussed in a counseling session may need to be revisited as new information emerges. At the end of the counseling process, individuals are typically reminded of the possibility that future research may provide new options and/or new information on risk. Individuals may be advised to check in with the health care provider periodically to determine whether new information is sufficient to merit an additional counseling session. The obligation of health care providers to recontact individuals when new genetic testing or treatment options are available is controversial, and standards have not been established.
Methods of Risk Presentation
The usage of numerical probabilities to communicate risk may overestimate the level of risk certainty, especially when wide confidence intervals exist to the estimates or when the individual may differ in important ways from the sample on which the risk estimate was derived. Also, numbers are often inadequate for expressing gut-level or emotional aspects of risk. Finally, there are wide variations in individuals’ level of understanding of mathematical concepts (i.e., numeracy). For all the above reasons, conveying risk in multiple ways, both numerically and verbally, with discussion of important caveats, may be a useful strategy to increase risk comprehension. The numerical format that facilitates the best understanding is natural frequencies because frequencies include information concerning the denominator, the reference group to which the individual may refer. In general, logarithmic scales are to be avoided. Additionally, important “contextual” risks may be included with the frequency in order to increase risk comprehension; these may include how the person’s risk compares with those who do not have the risk factor in question and the risks associated with common hazards, such as being in a car accident. Additional suggestions include being consistent in risk formats (do not mix odds and percentages), using the same denominator across risk estimates, avoiding decimal points, including base rate information, and providing more explanation if the risk is less than 1%.
The communication of risk may be numerical, verbal, or visual. Use of multiple strategies may increase comprehension and retention of cancer genetic risk information. Recently, use of visual risk communication strategies has increased (e.g., histograms, pie charts, and Venn diagrams). Visual depictions of risk may be very useful in avoiding problems with comprehension of numbers, but research that confirms this is lacking.[3,4] A study published in 2008 examined the use of two different visual aids to communicate breast cancer risk. Women at an increased risk of breast cancer were randomized to receive feedback via a bar graph alone or a bar graph plus a frequency diagram (i.e., highlighted human figures). Results indicate that overall, there were no differences in improved accuracy of risk perception between the two groups, but among those women who inaccurately perceived very high risk at baseline, the group receiving both visual aids showed greater improvement in accuracy.
The purpose of risk counseling is to provide individuals with accurate information about their risk, help them understand and interpret their risk, assist them as they use this information to make important health care decisions, and help them make the best possible adjustment to their situation. A systematic review of 28 studies that evaluated communication interventions showed that risk communication benefits users cognitively by increasing their knowledge and understanding of risk perception and does not negatively influence affect (anxiety, cancer-related worry, and depression). Risk communication does not appear to result in a change in use of screening practices and tests. Users received the most benefit from an approach utilizing risk communication along with genetic counseling.[6,7] Perceptions of risk are affected by the manner in which risk information is presented, difficulty understanding probability and heredity,[8,9] and other psychological processes on the part of individuals and providers. Risk may be communicated in many ways (e.g., with numbers, words, or graphics; alone or in relation to other risks; as the probability of having an adverse event; in relative or absolute terms; and through combinations of these methods). The way in which risk information is communicated may affect the individual’s perception of the magnitude of that risk. In general, relative risk estimates (e.g., "You have a threefold increased risk of colorectal cancer") are perceived as less informative than absolute risk (e.g., "You have a 25% risk of colorectal cancer")  or risk information presented as a ratio (e.g., 1 in 4). A strong preference for having BRCA1/2 mutation risk estimates expressed numerically is reported by women considering testing. Individuals associate widely differing quantitative risks with qualitative descriptors of risk such as “rare” or “common.” More research is needed on the best methods of communicating risk in order to help individuals develop an accurate understanding of their cancer risks.
Recent descriptive examination of the process of cancer genetic counseling has found that counseling sessions are predominantly focused on the biomedical teaching required to inform clients of their choices and to put genetic findings in perspective but that attention to psychosocial issues does not detract from teaching goals and may enhance satisfaction in clients undergoing counseling. For instance, one study of communication patterns in 167 pretest counseling sessions for BRCA1 found the sessions to have a predominantly biomedical and educational focus; however, this approach was client focused, with the counselor and client contributing equally to the dialogue. These authors note that there was a marked diversity in counselor styles, both between counselors and within different sessions, for each counselor. The finding of a didactic style was corroborated by other researchers who examined observer-rated content checklists and videotape of 51 counseling sessions for breast cancer susceptibility. Of note, genetic counselors seemed to rely on demographic information and breast cancer history to tailor genetic counseling sessions rather than client’s self-reported expectations or psychosocial factors. Concurrent provision of psychosocial and scientific information may be important in reducing worry in the context of counseling about cancer genetics topics. An increasing appreciation of language choices may contribute to enhanced understanding and reduced anxiety levels in the session; for example, it was noted that patients may appreciate synonymic choices for the word “mutation,” such as “altered gene”. Some authors have published recommendations for cultural tailoring of educational materials for the African-American population, such as a large flip chart, including the use of simple language and pictures, culturally identifiable images (e.g., spiritual symbols and tribal patterns), bright colors, and humor.
Literature that examines novel channels to communicate genetic cancer risk information, deliver psychosocial support, and standardize the genetic counseling process for individuals at increased risk of cancer is being developed.[20-27] Much of this literature has attempted to make the genetic counseling session more efficient or to limit the need for the counselor to address basic genetic principles in the session to free up time for the client’s personal and emotional concerns about his or her risk. For example, the receipt of genetic feedback for BRCA1/2 and mismatch repair gene testing by letter, rather than a face-to-face genetic counseling feedback session, has been investigated. Other modalities include the development of checklists, CD-ROM programs, and interactive computer programs. Checklists have been developed to ensure coverage of important topics in the counseling session and include those completed by observers or by the patients themselves to clarify their goals and needs in the counseling session. One study compared a feedback checklist completed by 197 women attending a high-risk breast clinic prior to the counseling session to convey prior genetic knowledge and misconceptions to aid the counselor in tailoring the session for that client. The use of the feedback checklist led to gains in knowledge from the counseling session but did not reduce genetic counseling time, perhaps because the genetic counselor chose to spend time discussing topics such as psychosocial issues. Use of the checklist did decrease the time spent with the medical oncologist, however. The feedback checklist was compared to a CD-ROM that outlined basic genetic concepts and the benefits and limitations of testing and found that those viewing the CD-ROM spent less time with counselors and were less likely to choose to undergo genetic testing. The CD-ROM did not lead to increased knowledge of genetic concepts, as did use of the checklist.
A prospective study evaluated the effects of a CD-ROM decisional support aid for microsatellite instability (MSI) tumor testing in 239 colorectal cancer patients who met the revised Bethesda criteria but who did not meet the Amsterdam criteria. The study also tested a theoretical model of factors influencing decisional conflict surrounding decisions to pursue MSI tumor testing. Within the study, half of the sample was randomly assigned to receive a brief description of MSI testing within the clinical encounter, and the other half was provided the CD-ROM decisional support aid in addition to the brief description. The CD-ROM and brief description intervention increased knowledge about MSI testing more than the brief description alone did. As a result, decisional conflict decreased because participants felt more prepared to make a decision about the test and had increased perceived benefits of MSI testing.
Other innovative strategies include educational materials and interactive computer technology. In one study, a 13-page color communication aid using a diverse format for conveying risk, including graphic representations and verbal descriptions, was developed. The authors evaluated the influence of the communication aid in 27 women at high risk of a BRCA1/2 mutation and compared those who had read the aid to a comparison sample of 107 women who received standard genetic counseling. Improvements in genetic knowledge and accuracy of risk perception were documented in those who had read the aid, with no differences in anxiety or depression between groups. Personalized, interactive electronic materials have also been developed to aid in genetic education and counseling.[24,25] In one study, an interactive computer education program available prior to the genetic counseling session was compared with genetic counseling alone in women undergoing counseling for BRCA1/2 testing. Use of the computer program prior to genetic counseling reduced face-time with the genetic counselor, particularly for those at lower risk of a BRCA1/2 mutation. Many of the counselors reported that their client’s use of the computer program allowed them to be more efficient and to reallocate time spent in the sessions to clients’ unique concerns.
Videoconferencing is an innovative strategy to facilitate genetic counseling sessions with clients who cannot travel to specialized clinic settings. In 37 individuals in the United Kingdom, real-time video conferencing was compared with face-to-face counseling sessions; both methods were found to improve knowledge and reduce anxiety levels. Similarly, teleconferencing sessions, in which the client and genetic specialists were able to talk with each other in real time, were used in rural Maine communities  in the pediatric context to convey genetic information and findings for developmental delays and were found to be comparable to in-person consultations in terms of decision-making confidence and satisfaction with the consultations. An Australian study compared the experiences of 106 women who received hereditary breast and ovarian cancer genetic counseling via videoconferencing with the experiences of 89 women who received counseling face to face. Pre- and 1-month postcounseling assessments revealed no significant differences in knowledge gains, satisfaction, cancer-specific anxiety, generalized anxiety, depression, and perceived empathy of the genetic counselor.
- Baker DL, Schuette JL, Uhlmann WR, eds.: A Guide to Genetic Counseling. New York, NY: Wiley-Liss, 1998.
- Lipkus IM: Numeric, verbal, and visual formats of conveying health risks: suggested best practices and future recommendations. Med Decis Making 27 (5): 696-713, 2007 Sep-Oct. [PUBMED Abstract]
- Ancker JS, Senathirajah Y, Kukafka R, et al.: Design features of graphs in health risk communication: a systematic review. J Am Med Inform Assoc 13 (6): 608-18, 2006 Nov-Dec. [PUBMED Abstract]
- Schapira MM, Nattinger AB, McHorney CA: Frequency or probability? A qualitative study of risk communication formats used in health care. Med Decis Making 21 (6): 459-67, 2001 Nov-Dec. [PUBMED Abstract]
- Ghosh K, Crawford BJ, Pruthi S, et al.: Frequency format diagram and probability chart for breast cancer risk communication: a prospective, randomized trial. BMC Womens Health 8: 18, 2008. [PUBMED Abstract]
- Edwards A, Gray J, Clarke A, et al.: Interventions to improve risk communication in clinical genetics: systematic review. Patient Educ Couns 71 (1): 4-25, 2008. [PUBMED Abstract]
- Edwards A, Unigwe S, Elwyn G, et al.: Personalised risk communication for informed decision making about entering screening programs. Cochrane Database Syst Rev (1): CD001865, 2003. [PUBMED Abstract]
- Marteau TM, van Duijn M, Ellis I: Effects of genetic screening on perceptions of health: a pilot study. J Med Genet 29 (1): 24-6, 1992. [PUBMED Abstract]
- Hopwood P, Howell A, Lalloo F, et al.: Do women understand the odds? Risk perceptions and recall of risk information in women with a family history of breast cancer. Community Genet 6 (4): 214-23, 2003. [PUBMED Abstract]
- Redelmeier DA, Koehler DJ, Liberman V, et al.: Probability judgement in medicine: discounting unspecified possibilities. Med Decis Making 15 (3): 227-30, 1995 Jul-Sep. [PUBMED Abstract]
- Malenka DJ, Baron JA, Johansen S, et al.: The framing effect of relative and absolute risk. J Gen Intern Med 8 (10): 543-8, 1993. [PUBMED Abstract]
- Winer E, Winer N, Bluman L, et al.: Attitudes and risk perceptions of women with breast cancer considering testing for BRCA1/2. [Abstract] Proceedings of the American Society of Clinical Oncology 16: A1937, 537a, 1997.
- Mazur DJ, Hickam DH: Patients' interpretations of probability terms. J Gen Intern Med 6 (3): 237-40, 1991 May-Jun. [PUBMED Abstract]
- Ellington L, Baty BJ, McDonald J, et al.: Exploring genetic counseling communication patterns: the role of teaching and counseling approaches. J Genet Couns 15 (3): 179-89, 2006. [PUBMED Abstract]
- Pieterse AH, van Dulmen S, van Dijk S, et al.: Risk communication in completed series of breast cancer genetic counseling visits. Genet Med 8 (11): 688-96, 2006. [PUBMED Abstract]
- Lobb EA, Butow PN, Meiser B, et al.: Tailoring communication in consultations with women from high risk breast cancer families. Br J Cancer 87 (5): 502-8, 2002. [PUBMED Abstract]
- Appleton S, Watson M, Rush R, et al.: A randomised controlled trial of a psychoeducational intervention for women at increased risk of breast cancer. Br J Cancer 90 (1): 41-7, 2004. [PUBMED Abstract]
- Hodgson J, Hughes E, Lambert C: "SLANG"--Sensitive Language and the New Genetics--an exploratory study. J Genet Couns 14 (6): 415-21, 2005. [PUBMED Abstract]
- Baty BJ, Kinney AY, Ellis SM: Developing culturally sensitive cancer genetics communication aids for African Americans. Am J Med Genet 118A (2): 146-55, 2003. [PUBMED Abstract]
- Green MJ, Peterson SK, Baker MW, et al.: Effect of a computer-based decision aid on knowledge, perceptions, and intentions about genetic testing for breast cancer susceptibility: a randomized controlled trial. JAMA 292 (4): 442-52, 2004. [PUBMED Abstract]
- Fransen M, Meertens R, Schrander-Stumpel C: Communication and risk presentation in genetic counseling. Development of a checklist. Patient Educ Couns 61 (1): 126-33, 2006. [PUBMED Abstract]
- Wang C, Gonzalez R, Milliron KJ, et al.: Genetic counseling for BRCA1/2: a randomized controlled trial of two strategies to facilitate the education and counseling process. Am J Med Genet A 134 (1): 66-73, 2005. [PUBMED Abstract]
- Lobb EA, Butow PN, Moore A, et al.: Development of a communication aid to facilitate risk communication in consultations with unaffected women from high risk breast cancer families: a pilot study. J Genet Couns 15 (5): 393-405, 2006. [PUBMED Abstract]
- Mackay J, Schulz P, Rubinelli S, et al.: Online patient education and risk assessment: project OPERA from Cancerbackup. Putting inherited breast cancer risk information into context using argumentation theory. Patient Educ Couns 67 (3): 261-6, 2007. [PUBMED Abstract]
- Green MJ, Peterson SK, Baker MW, et al.: Use of an educational computer program before genetic counseling for breast cancer susceptibility: effects on duration and content of counseling sessions. Genet Med 7 (4): 221-9, 2005. [PUBMED Abstract]
- Coelho JJ, Arnold A, Nayler J, et al.: An assessment of the efficacy of cancer genetic counselling using real-time videoconferencing technology (telemedicine) compared to face-to-face consultations. Eur J Cancer 41 (15): 2257-61, 2005. [PUBMED Abstract]
- Lea DH, Johnson JL, Ellingwood S, et al.: Telegenetics in Maine: Successful clinical and educational service delivery model developed from a 3-year pilot project. Genet Med 7 (1): 21-7, 2005. [PUBMED Abstract]
- Voorwinden JS, Jaspers JP, ter Beest JG, et al.: The introduction of a choice to learn pre-symptomatic DNA test results for BRCA or Lynch syndrome either face-to-face or by letter. Clin Genet 81 (5): 421-9, 2012. [PUBMED Abstract]
- Hall MJ, Manne SL, Winkel G, et al.: Effects of a decision support intervention on decisional conflict associated with microsatellite instability testing. Cancer Epidemiol Biomarkers Prev 20 (2): 249-54, 2011. [PUBMED Abstract]
- Zilliacus EM, Meiser B, Lobb EA, et al.: Are videoconferenced consultations as effective as face-to-face consultations for hereditary breast and ovarian cancer genetic counseling? Genet Med 13 (11): 933-41, 2011. [PUBMED Abstract]