Cancer Risk Assessment and Counseling
Comprehensive cancer risk assessment is a consultative service that includes clinical assessment, genetic testing when appropriate, and risk management recommendations delivered in the context of one or more genetic counseling sessions.
Several professional organizations emphasize the importance of genetic counseling in the cancer risk assessment and genetic testing process. Examples of these organizations include the following:
- American College of Medical Genetics.
- American Society of Clinical Oncology.[1-3]
- American Society of Human Genetics.
- International Society of Nurses in Genetics.
- National Society of Genetic Counselors.[4-6]
- National Comprehensive Cancer Network.[7,8]
- Oncology Nursing Society.
- Society of Gynecologic Oncologists.
Genetic counseling informs the consultand about potential cancer risks and the benefits and limitations of genetic testing and offers an opportunity to consider the potential medical, psychological, familial, and social implications of genetic information.[4,10,11] Descriptions of genetic counseling and the specialized practice of cancer risk assessment counseling are detailed below.Genetic Counseling
Genetic counseling has been defined by the American Society of Human Genetics as “a communication process that deals with the human problems associated with the occurrence, or risk of occurrence, of a genetic disorder in a family." The process involves an attempt by one or more appropriately trained persons to help the individual or family do the following:
- Comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management.
- Appreciate the way that heredity contributes to the disorder, and to the risk of recurrence (occurrence), in specific relatives.
- Understand the alternatives for dealing with the risk of recurrence (occurrence).
- Choose a course of action that seems to them appropriate in view of their risk, their family goals, and their ethical and religious standards and act in accordance with that decision.
- Make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence (occurrence) of that disorder.
In 2006, the National Society of Genetic Counselors further refined the definition of genetic counseling to include the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease, including integration of the following:
- Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence.
- Education about inheritance, testing, management, prevention, resources, and research.
- Counseling to promote informed choices and adaptation to the risk or condition.
Central to the philosophy and practice of genetic counseling are the principles of voluntary utilization of services, informed decision making, attention to psychosocial and affective dimensions of coping with genetic risk, and protection of patient confidentiality and privacy. This is facilitated through a combination of rapport building and information gathering; establishing or verifying diagnoses; risk assessment and calculation of quantitative occurrence/recurrence risks; education and informed consent processes; psychosocial assessment, support, and counseling appropriate to a family’s culture and ethnicity; and other relevant background characteristics.[13,14] The psychosocial assessment is especially important in the genetic counseling process because individuals most vulnerable to adverse effects of genetic information may include those who have had difficulty dealing with stressful life events in the past. Variables that may influence psychosocial adjustment to genetic information include individual and familial factors; cultural factors; and health system factors such as the type of test, disease status, and risk information. Findings from a psychosocial assessment can be used to help guide the direction of the counseling session. An important objective of genetic counseling is to provide an opportunity for shared decision making when the medical benefits of one course of action are not demonstrated to be superior to another. The relationship between the availability of effective medical treatment for mutation carriers and the clinical validity of a given test affects the degree to which personal choice or physician recommendation is supported in counseling at-risk individuals. Uptake of genetic counseling services among those referred varies based on the cancer syndrome. For example, hereditary breast and ovarian cancer genetic referral uptake is moderate (about 30%). Efforts to decrease barriers to service utilization are ongoing (e.g., a patient navigator telephone call may increase utilization of these services by at-risk women). Readers interested in the nature and history of genetic counseling are referred to a number of comprehensive reviews.[19-24]Cancer Risk Assessment Counseling
The scope of genetic counseling practice has expanded over the past several years to address risk assessment and genetic testing for hereditary cancer predisposition. Cancer risk assessment counseling has emerged as a specialized practice that requires knowledge of genetics, oncology, and individual and family counseling skills that may be provided by health care providers with this interdisciplinary training.[25,26] Some centers providing cancer risk assessment services involve a multidisciplinary team, which may include a genetic counselor; a genetics advanced practice nurse; a medical geneticist or a physician, such as an oncologist, surgeon, or internist; and a mental health professional. The Cancer Genetics Services Directory provides a partial list of individuals involved in cancer risk assessment, genetic counseling, testing, and other related services and is available on the National Cancer Institute's Web site.
The need for advanced professional training in cancer genetics for genetics counselors, physicians, nurses, laboratory technicians, and others has been widely reported.[27-31] Despite these identified needs, the evidence indicates that competency in genetics and genomics remains limited across all health care disciplines, with the exception of genetic specialists. Knowledge deficits in hereditary cancer syndromes and concerns about genetic discrimination influence provider referral patterns for genetic counseling. A study of 1,181 California physicians and nurse practitioners examined knowledge gaps and perceptions about cancer genetic testing, genetic discrimination, and genetic nondiscrimination laws. Factors associated with having referred patients for cancer genetic counseling included having a more positive attitude toward genetic testing and a greater knowledge of nondiscrimination laws. Respondents who believed that genetic discrimination exists with regard to health insurance, and those who saw a higher number of underserved patients in their practice, were less likely to have referred patients for cancer genetic counseling. In a single-institution study, a retrospective chart review was conducted over a 10-year period to determine the genetic counseling referral rate for patients with ovarian, fallopian tube, or primary peritoneal cancers who were also at high risk of BRCA1/BRCA2 mutations. Results showed that referral rates increased from 12% in 1997 to 48% in 2007; however, the latter referral rate was deemed suboptimal because the majority of at-risk patients had not been referred for counseling. A study conducted at a U.S. health institution found that among participants with a family history suggestive of increased BRCA risk consistent with U.S. Preventive Services Task Force guidelines and who shared their family history with their provider, fewer than 20% were referred for genetic counseling, and only 8% had undergone genetic testing.
The National Coalition for Health Professional Education in Genetics (NCHPEG) has published and updated core competencies for all health professionals. Building on this work, individual health professions, such as nursing and physician assistants, have developed and published core competencies specific to their profession.[36,37] A number of other organizations have also published professional guidelines, scopes, and standards of practice.[38-42]
Traditionally, genetic counseling services have been delivered using individualized in-person appointments. However, other methodologies are being explored, including group sessions, telephone counseling, and telemedicine by videoconferencing.[43-50] Additionally, computer programs and Web sites designed to provide genetics education can be successful adjuncts to personal genetic counseling services in a computer-literate population.[51-55]
Some studies of patient satisfaction with cancer genetic counseling services have been published. For example, one survey of individuals who participated in a cancer genetics program in its inaugural year reported that the clinical services met the needs and expectations of most people. Patients reported that the best parts of the experience were simply having a chance to talk to someone about cancer concerns, having personalized summary letters and family pedigrees, learning that cancer risk was lower than expected, or realizing that one had been justified in suspecting the inheritance of cancer in one’s family.
Several studies have since shown that the majority of individuals are satisfied with their genetic counseling experience.[57-60] However, one study of 61 women participating in a BRCA1/2 genetic testing program found that satisfaction with genetic counseling was influenced by psychological variables including optimism, family functioning, and general and cancer-specific distress.
A meta-analysis of several controlled studies showed that outcomes of genetic counseling included improvement in cancer genetic knowledge (pooled short-term difference – 0.70 U, 95% confidence interval, 0.15–1.26 U). Overall, no long-term increases in general anxiety, cancer-specific worry, distress, or depression were detected as a consequence of genetic counseling. However, the impact of genetic counseling on risk perception is less clear, with some studies reporting no change in risk perception while others report significant differences before and after counseling.References
- Robson ME, Storm CD, Weitzel J, et al.: American Society of Clinical Oncology policy statement update: genetic and genomic testing for cancer susceptibility. J Clin Oncol 28 (5): 893-901, 2010. [PUBMED Abstract]
- American Society of Clinical Oncology.: American Society of Clinical Oncology policy statement update: genetic testing for cancer susceptibility. J Clin Oncol 21 (12): 2397-406, 2003. [PUBMED Abstract]
- Statement of the American Society of Clinical Oncology: genetic testing for cancer susceptibility, Adopted on February 20, 1996. J Clin Oncol 14 (5): 1730-6; discussion 1737-40, 1996. [PUBMED Abstract]
- Resta R, Biesecker BB, Bennett RL, et al.: A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report. J Genet Couns 15 (2): 77-83, 2006. [PUBMED Abstract]
- Riley BD, Culver JO, Skrzynia C, et al.: Essential elements of genetic cancer risk assessment, counseling, and testing: updated recommendations of the National Society of Genetic Counselors. J Genet Couns 21 (2): 151-61, 2012. [PUBMED Abstract]
- Berliner JL, Fay AM, Cummings SA, et al.: NSGC practice guideline: risk assessment and genetic counseling for hereditary breast and ovarian cancer. J Genet Couns 22 (2): 155-63, 2013. [PUBMED Abstract]
- National Comprehensive Cancer Network.: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 4.2013. Rockledge, PA: National Comprehensive Cancer Network, 2013. Available online with free registration. Last accessed January 15, 2014.
- National Comprehensive Cancer Network.: NCCN Clinical Practice Guidelines in Oncology: Colorectal Cancer Screening. Version 2.2013. Rockledge, PA: National Comprehensive Cancer Network, 2013. Available online with free registration. Last accessed January 15, 2014.
- Lancaster JM, Powell CB, Kauff ND, et al.: Society of Gynecologic Oncologists Education Committee statement on risk assessment for inherited gynecologic cancer predispositions. Gynecol Oncol 107 (2): 159-62, 2007. [PUBMED Abstract]
- Lerman C, Peters JA, Ades T, et al.: Genetic counseling issues. Workshop No. 2. Cancer 80 (3 Suppl): 628-629, 1997.
- Resta RG: Defining and redefining the scope and goals of genetic counseling. Am J Med Genet C Semin Med Genet 142C (4): 269-75, 2006. [PUBMED Abstract]
- Genetic counseling. Am J Hum Genet 27 (2): 240-2, 1975. [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]
- Jenkins JF, Lea DH: Nursing Care in the Genomic Era: A Case-Based Approach. Sudbury, Mass: Jones and Bartlett Publishers, 2005.
- Meiser B, Gaff C, Julian-Reynier C, et al.: International perspectives on genetic counseling and testing for breast cancer risk. Breast Dis 27: 109-25, 2006-2007. [PUBMED Abstract]
- Burke W, Pinsky LE, Press NA: Categorizing genetic tests to identify their ethical, legal, and social implications. Am J Med Genet 106 (3): 233-40, 2001 Fall. [PUBMED Abstract]
- Cappelli M, Surh L, Humphreys L, et al.: Psychological and social determinants of women's decisions to undergo genetic counseling and testing for breast cancer. Clin Genet 55 (6): 419-30, 1999. [PUBMED Abstract]
- Rahm AK, Sukhanova A, Ellis J, et al.: Increasing utilization of cancer genetic counseling services using a patient navigator model. J Genet Couns 16 (2): 171-7, 2007. [PUBMED Abstract]
- Walker AP: The practice of genetic counseling. In: Baker DL, Schuette JL, Uhlmann WR, eds.: A Guide to Genetic Counseling. New York, NY: Wiley-Liss, 1998, pp 1-26.
- Bartels DM, LeRoy BS, Caplan AL, eds.: Prescribing Our Future: Ethical Challenges in Genetic Counseling. New York, NY: Aldine De Gruyter, 1993.
- Kenen RH: Genetic counseling: the development of a new interdisciplinary occupational field. Soc Sci Med 18 (7): 541-9, 1984. [PUBMED Abstract]
- Kenen RH, Smith AC: Genetic counseling for the next 25 years: models for the future. J Genet Couns 4 (2): 115-24, 1995.
- Biesecker BB: Goals of genetic counseling. Clin Genet 60 (5): 323-30, 2001. [PUBMED Abstract]
- Weil Jon: Psychosocial Genetic Counseling. New York, NY: Oxford University Press, 2000.
- Freedman AN, Wideroff L, Olson L, et al.: US physicians' attitudes toward genetic testing for cancer susceptibility. Am J Med Genet A 120A (1): 63-71, 2003. [PUBMED Abstract]
- Myers MF, Doksum T, Holtzman NA: Genetic services for common complex disorders: surveys of health maintenance organizations and academic genetic centers. Genet Med 1 (6): 272-85, 1999 Sep-Oct. [PUBMED Abstract]
- Cole DE, Gallinger S, McCready DR, et al.: Genetic counselling and testing for susceptibility to breast, ovarian and colon cancer: where are we today? CMAJ 154 (2): 149-55, 1996. [PUBMED Abstract]
- Calzone KA: Predisposition testing for breast and ovarian cancer susceptibility. Semin Oncol Nurs 13 (2): 82-90, 1997. [PUBMED Abstract]
- Mansoura MK, Collins FS: Medical implications of the genetic revolution. Journal of Health Care Law and Policy 1 (2): 329-53, 1998.
- Holtzman NA, Watson MS, eds.: Promoting Safe and Effective Genetic Testing in the United States: Final Report of the Task Force on Genetic Testing. Baltimore, Md: Johns Hopkins Press, 1998. Also available online. Last accessed January 15, 2014.
- McInerney JD: Genetics education for health professionals: a context. J Genet Couns 17 (2): 145-51, 2008. [PUBMED Abstract]
- Harvey EK, Fogel CE, Peyrot M, et al.: Providers' knowledge of genetics: A survey of 5915 individuals and families with genetic conditions. Genet Med 9 (5): 259-67, 2007. [PUBMED Abstract]
- Lowstuter KJ, Sand S, Blazer KR, et al.: Influence of genetic discrimination perceptions and knowledge on cancer genetics referral practice among clinicians. Genet Med 10 (9): 691-8, 2008. [PUBMED Abstract]
- Meyer LA, Anderson ME, Lacour RA, et al.: Evaluating women with ovarian cancer for BRCA1 and BRCA2 mutations: missed opportunities. Obstet Gynecol 115 (5): 945-52, 2010. [PUBMED Abstract]
- Bellcross CA, Leadbetter S, Alford SH, et al.: Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral. Cancer Epidemiol Biomarkers Prev 22 (4): 728-35, 2013. [PUBMED Abstract]
- Jenkins J, Calzone KA: Establishing the essential nursing competencies for genetics and genomics. J Nurs Scholarsh 39 (1): 10-6, 2007. [PUBMED Abstract]
- Rackover M: Establishing essential physician assistant clinical competencies guidelines for genetics and genomics. The Journal of Physician Assistant Education 18 (2): 47-8, 2007.
- McKinnon WC, Baty BJ, Bennett RL, et al.: Predisposition genetic testing for late-onset disorders in adults. A position paper of the National Society of Genetic Counselors. JAMA 278 (15): 1217-20, 1997. [PUBMED Abstract]
- Resource document for curriculum development in cancer genetics education. American Society of Clinical Oncology. J Clin Oncol 15 (5): 2157-69, 1997. [PUBMED Abstract]
- Points to consider: ethical, legal, and psychosocial implications of genetic testing in children and adolescents. American Society of Human Genetics Board of Directors, American College of Medical Genetics Board of Directors. Am J Hum Genet 57 (5): 1233-41, 1995. [PUBMED Abstract]
- ASHG statement. Professional disclosure of familial genetic information. The American Society of Human Genetics Social Issues Subcommittee on Familial Disclosure. Am J Hum Genet 62 (2): 474-83, 1998. [PUBMED Abstract]
- The National Action Plan on Breast Cancer (NAPBC) Hereditary Susceptibility Working Group and Education Subgroup.: Hereditary Susceptibility to Breast and Ovarian Cancer: An Outline of Fundamental Knowledge Needed by all Health Care Professionals. Washington D.C.: US Dept. of Health and Human Services, The Office on Women's Health, 2000.
- Ormond K: Recommendations for telephone counseling. J Genet Couns 9 (1): 63-71, 2000.
- Sangha K: Assessment of the effectiveness of genetic counseling by telephone compared to a clinic visit. J Genet Couns 12 (2): 171-84, 2003.
- Calzone KA, Prindiville SA, Jourkiv O, et al.: Randomized comparison of group versus individual genetic education and counseling for familial breast and/or ovarian cancer. J Clin Oncol 23 (15): 3455-64, 2005. [PUBMED Abstract]
- Jenkins J, Calzone KA, Dimond E, et al.: Randomized comparison of phone versus in-person BRCA1/2 predisposition genetic test result disclosure counseling. Genet Med 9 (8): 487-95, 2007. [PUBMED Abstract]
- Peshkin BN, Demarco TA, Graves KD, et al.: Telephone genetic counseling for high-risk women undergoing BRCA1 and BRCA2 testing: rationale and development of a randomized controlled trial. Genet Test 12 (1): 37-52, 2008. [PUBMED Abstract]
- Zilliacus EM, Meiser B, Lobb EA, et al.: Women's experience of telehealth cancer genetic counseling. J Genet Couns 19 (5): 463-72, 2010. [PUBMED Abstract]
- Rothwell E, Kohlmann W, Jasperson K, et al.: Patient outcomes associated with group and individual genetic counseling formats. Fam Cancer 11 (1): 97-106, 2012. [PUBMED Abstract]
- Platten U, Rantala J, Lindblom A, et al.: The use of telephone in genetic counseling versus in-person counseling: a randomized study on counselees' outcome. Fam Cancer 11 (3): 371-9, 2012. [PUBMED Abstract]
- Green MJ, Biesecker BB, McInerney AM, et al.: An interactive computer program can effectively educate patients about genetic testing for breast cancer susceptibility. Am J Med Genet 103 (1): 16-23, 2001. [PUBMED Abstract]
- Green MJ, McInerney AM, Biesecker BB, et al.: Education about genetic testing for breast cancer susceptibility: patient preferences for a computer program or genetic counselor. Am J Med Genet 103 (1): 24-31, 2001. [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]
- Joseph G, Beattie MS, Lee R, et al.: Pre-counseling education for low literacy women at risk of Hereditary Breast and Ovarian Cancer (HBOC): patient experiences using the Cancer Risk Education Intervention Tool (CREdIT). J Genet Couns 19 (5): 447-62, 2010. [PUBMED Abstract]
- Albada A, van Dulmen S, Lindhout D, et al.: A pre-visit tailored website enhances counselees' realistic expectations and knowledge and fulfils information needs for breast cancer genetic counselling. Fam Cancer 11 (1): 85-95, 2012. [PUBMED Abstract]
- Stadler MP, Mulvihill JJ: Cancer risk assessment and genetic counseling in an academic medical center: consultands' satisfaction, knowledge, and behavior in the first year. J Genet Couns 7 (3): 279-97, 1998.
- Chen WY, Garber JE, Higham S, et al.: BRCA1/2 genetic testing in the community setting. J Clin Oncol 20 (22): 4485-92, 2002. [PUBMED Abstract]
- Nordin K, Lidén A, Hansson M, et al.: Coping style, psychological distress, risk perception, and satisfaction in subjects attending genetic counselling for hereditary cancer. J Med Genet 39 (9): 689-94, 2002. [PUBMED Abstract]
- Klemp JR, O'Dea A, Chamberlain C, et al.: Patient satisfaction of BRCA1/2 genetic testing by women at high risk for breast cancer participating in a prevention trial. Fam Cancer 4 (4): 279-84, 2005. [PUBMED Abstract]
- Bober SL, Hoke LA, Duda RB, et al.: Recommendation recall and satisfaction after attending breast/ovarian cancer risk counseling. J Genet Couns 16 (6): 755-62, 2007. [PUBMED Abstract]
- Tercyak KP, Demarco TA, Mars BD, et al.: Women's satisfaction with genetic counseling for hereditary breast-ovarian cancer: psychological aspects. Am J Med Genet A 131 (1): 36-41, 2004. [PUBMED Abstract]
- Braithwaite D, Emery J, Walter F, et al.: Psychological impact of genetic counseling for familial cancer: a systematic review and meta-analysis. J Natl Cancer Inst 96 (2): 122-33, 2004. [PUBMED Abstract]