NCI/PDQ^® Health professionals: Cancer Genetics Risk Assessment and Counseling (PDQ®)

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National Cancer Institute
Last Modified: November 2, 2012

TABLE OF CONTENTS

• Introduction

• Cancer Risk Assessment and Counseling
  • Genetic Counseling
  • Cancer Risk Assessment Counseling

• Components of the Risk Assessment Process
  • Assessment
    • Psychosocial assessment
    • Education
    • Risk perception
  • Clinical Evaluation
    • Personal health history
    • Physical examination
    • Family history
      • Documenting the family history
      • Accuracy of the family history
  • Determining Cancer Risk
    • Analysis of the family history
    • Methods of quantifying cancer risk
      • Risk of harboring a deleterious mutation in a cancer susceptibility gene
      • Risk of developing cancer

• Education and Counseling About Risk/Risk Communication
  • Methods of Risk Presentation
  • Risk Communication
  • Communication Strategies

• The Option of Genetic Testing
  • Factors to Take into Consideration in Offering Testing
    • Indications for testing
    • Value of testing an affected family member first
    • Testing in families with a documented deleterious mutation
    • Genetic testing and assisted reproductive technology
  • Determining the Test to be Used
    • Regulation of genetic tests
  • Direct-to-Consumer (DTC) Marketing of Genetic Tests
    • Trends in DTC marketing of genetic tests
    • DTC genetic testing in children
    • Concerns about marketing of DTC genetic tests
    • Research examining the impact of DTC marketing of genetic tests
      • Research examining DTC testing
  • Informed Consent
    • Core elements of informed consent
    • Testing in children
    • Testing in vulnerable populations
  • Importance of Pretest Counseling
  • Psychological Impact of Genetic Information/Test Results on the Individual
  • Psychological Impact of Genetic Information/Test Results on the Family
    • Exploration of potential risks, benefits, burdens, and limitations of genetic susceptibility testing
    • Posttest education and result notification

• Ethical, Legal, and Social Implications
  • Bioethical Issues in Cancer Genetic Testing
    • Beneficence
    • Nonmaleficence
    • Autonomy
    • Justice
  • Privacy and Confidentiality: Disclosure of Patient's Genetic Information
    • Disclosure in research
    • Duty to warn: Legal proceedings, federal/state legislation, and recommendations of professional organizations
  • Employment and Insurance Discrimination
    • Legal proceedings, federal/state legislation, and recommendations of professional organizations
      • Genetic Information Nondiscrimination Act 2008
      • Exception to protections against employment and insurance discrimination: Active duty military personnel
      • Case scenarios involving ELSI issues in cancer genetic testing
        • Duty to warn versus privacy
        • Patient's right to know versus family member's autonomy
        • Right to know versus right not to know
      • Beneficence versus paternalism
    • Professional guidelines and other resources

• Changes to This Summary (11/02/2012)

• About This PDQ® Summary
  • Purpose of This Summary
  • Reviewers and Updates
  • Levels of Evidence
  • Permission to Use This Summary
  • Disclaimer
  • Contact Us

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Introduction

[Note: Many of the medical and scientific terms used in this summary are found in the NCI Dictionary of Genetics Terms. When a linked term is clicked, the definition will appear in a separate window.]

This summary describes current approaches to assessing and counseling people about their chance of having an inherited susceptibility to cancer. Genetic counseling is defined by the National Society of Genetic Counselors as the process of helping people understand and adapt to the medical, psychological, and familial implications of genetic contributions to disease. Several reviews present overviews of the cancer risk assessment, counseling, and genetic testing process. 1 2 3 4

Individuals are considered to be candidates for cancer risk assessment if they have a personal and/or family history (maternal or paternal lineage) with features suggestive of hereditary cancer. 5 These features vary by type of cancer and specific hereditary syndrome. Criteria have been published to help identify families who may benefit from a referral to genetic counseling. 2 6 The PDQ® cancer genetics information summaries on breast, ovarian, colorectal, prostate, and skin cancers and endocrine and neuroendocrine neoplasias describe the clinical features of hereditary syndromes associated with these conditions.

The following are features that suggest hereditary cancer:

• Unusually early age of cancer onset (e.g., premenopausal breast cancer).
• Multiple primary cancers in a single individual (e.g., colorectal and endometrial cancer).
• Bilateral cancer in paired organs or multifocal disease (e.g., bilateral breast cancer or multifocal renal cancer).
• Clustering of the same type of cancer in close relatives (e.g., mother, daughter, and sisters with breast cancer).
• Cancers occurring in multiple generations of a family (i.e., autosomal dominant inheritance).
• Occurrence of rare tumors (e.g., retinoblastoma, adrenocortical carcinoma, granulosa cell tumor of the ovary, ocular melanoma, or duodenal cancer).
• Unusual presentation of cancer (e.g., male breast cancer).
• Uncommon tumor histology (e.g., medullary thyroid carcinoma).
• Rare cancers associated with birth defects (e.g., Wilms tumor and genitourinary abnormalities).
• Geographic or ethnic populations known to be at high risk of hereditary cancers. Genetic testing candidates may be identified based solely on ethnicity when a strong founder effect is present in a given population (e.g., Ashkenazi heritage and BRCA1/BRCA2 mutations). 7 8

As part of the process of genetic education and counseling, genetic testing may be considered when the following factors are present:

• An individual's personal history (including ethnicity) and/or family history is suspicious for a genetic predisposition to cancer.
• The genetic test has sufficient sensitivity and specificity to be interpreted.
• The test will impact the individual's diagnosis, cancer management or cancer risk management, and/or help clarify risk in family members. 9 10

A candidate for genetic testing receives genetic education and counseling before testing to facilitate informed decision making and adaptation to the risk or condition. 11 Genetic education and counseling gives an individual time to consider the various medical uncertainties, diagnosis, or medical management based on varied test results, and the risks, benefits, and limitations of genetic testing.

References:

1. Petersen GM: Genetic testing. Hematol Oncol Clin North Am 14 (4): 939-52, 2000. [PUBMED Abstract]
2. Kuschel B, Lux MP, Goecke TO, et al.: Prevention and therapy for BRCA1/2 mutation carriers and women at high risk for breast and ovarian cancer. Eur J Cancer Prev 9 (3): 139-50, 2000. [PUBMED Abstract]
3. Schoen RE: Families at risk for colorectal cancer: risk assessment and genetic testing. J Clin Gastroenterol 31 (2): 114-20, 2000. [PUBMED Abstract]
4. 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]
5. Weitzel JN, Lagos VI, Cullinane CA, et al.: Limited family structure and BRCA gene mutation status in single cases of breast cancer. JAMA 297 (23): 2587-95, 2007. [PUBMED Abstract]
6. Hampel H, Sweet K, Westman JA, et al.: Referral for cancer genetics consultation: a review and compilation of risk assessment criteria. J Med Genet 41 (2): 81-91, 2004. [PUBMED Abstract]
7. Tobias DH, Eng C, McCurdy LD, et al.: Founder BRCA 1 and 2 mutations among a consecutive series of Ashkenazi Jewish ovarian cancer patients. Gynecol Oncol 78 (2): 148-51, 2000. [PUBMED Abstract]
8. Beller U, Halle D, Catane R, et al.: High frequency of BRCA1 and BRCA2 germline mutations in Ashkenazi Jewish ovarian cancer patients, regardless of family history. Gynecol Oncol 67 (2): 123-6, 1997. [PUBMED Abstract]
9. 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]
10. 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]
11. Genetic Counseling as a Profession. Chicago, IL: National Society of Genetic Counselors, 2006. Also available online. [PUBMED Abstract]

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 2 3
• American Society of Human Genetics.
• International Society of Nurses in Genetics.
• National Society of Genetic Counselors. 4 5 6
• National Comprehensive Cancer Network. 7 8
• Oncology Nursing Society.
• Society of Gynecologic Oncologists. 9

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:

1. Comprehend the medical facts, including the diagnosis, probable course of the disorder, and the available management.
2. Appreciate the way that heredity contributes to the disorder, and to the risk of recurrence (occurrence), in specific relatives.
3. Understand the alternatives for dealing with the risk of recurrence (occurrence).
4. 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.
5. Make the best possible adjustment to the disorder in an affected family member and/or to the risk of recurrence (occurrence) of that disorder. 12

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. 4

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. 15 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. 15 Findings from a psychosocial assessment can be used to help guide the direction of the counseling session. 5 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. 16 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%). 17 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). 18 Readers interested in the nature and history of genetic counseling are referred to a number of comprehensive reviews. 19 20 21 22 23 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 28 29 30 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. 32 Knowledge deficits in hereditary cancer syndromes and concerns about genetic discrimination influence provider referral patterns for genetic counseling. Results of a survey of 1,600 providers in California showed that a majority were unable to identify cases appropriate for referral and were unaware of existing federal and state protective laws. 33 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. 34

The National Coalition for Health Professional Education in Genetics (NCHPEG) was established in 1996 to enhance the level of general professional education about 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. 35 36 A number of other organizations have also published professional guidelines and scopes and standards of practice. 37 38 39 40 41 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 44 45 46 47 48 Additionally, computer programs designed to provide genetics education can be successful adjuncts to personal genetic counseling services in a computer-literate population. 49 50 51 52

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. 53 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. 54 55 56 57 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. 58

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, 0.151.26 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. 59

References:

1. 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]
2. 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]
3. 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]
4. 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]
5. 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]
6. Berliner JL, Fay AM; Practice Issues Subcommittee of the National Society of Genetic Counselors' Familial Cancer Risk Counseling Special Interest Group.: Risk assessment and genetic counseling for hereditary breast and ovarian cancer: recommendations of the National Society of Genetic Counselors. J Genet Couns 16 (3): 241-60, 2007. [PUBMED Abstract]
7. National Comprehensive Cancer Network.: NCCN Clinical Practice Guidelines in Oncology: Genetic/Familial High-Risk Assessment: Breast and Ovarian. Version 1.2012. Rockledge, PA: National Comprehensive Cancer Network, 2012. Available online with free registration [PUBMED Abstract]
8. National Comprehensive Cancer Network.: NCCN Clinical Practice Guidelines in Oncology: Colorectal Cancer Screening. Version 2.2012. Rockledge, PA: National Comprehensive Cancer Network, 2012. Available online with free registration. [PUBMED Abstract]
9. 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]
10. Lerman C, Peters JA, Ades T, et al.: Genetic counseling issues. Workshop No. 2. Cancer 80(3): 628-629, 1997. [PUBMED Abstract]
11. 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]
12. Genetic counseling. Am J Hum Genet 27 (2): 240-2, 1975. [PUBMED Abstract]
13. 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]
14. Jenkins JF, Lea DH: Nursing Care in the Genomic Era: A Case-Based Approach. Sudbury, Mass: Jones and Bartlett Publishers, 2005. [PUBMED Abstract]
15. 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]
16. 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]
17. 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]
18. 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]
19. 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. [PUBMED Abstract]
20. Bartels DM, LeRoy BS, Caplan AL, eds.: Prescribing Our Future: Ethical Challenges in Genetic Counseling. New York, NY: Aldine De Gruyter, 1993. [PUBMED Abstract]
21. Kenen RH: Genetic counseling: the development of a new interdisciplinary occupational field. Soc Sci Med 18 (7): 541-9, 1984. [PUBMED Abstract]
22. Kenen RH, Smith AC: Genetic counseling for the next 25 years: models for the future. J Genet Couns 4(2): 115-124, 1995. [PUBMED Abstract]
23. Biesecker BB: Goals of genetic counseling. Clin Genet 60 (5): 323-30, 2001. [PUBMED Abstract]
24. Weil Jon: Psychosocial Genetic Counseling. New York, NY: Oxford University Press, 2000. [PUBMED Abstract]
25. 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]
26. 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]
27. 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]
28. Calzone KA: Predisposition testing for breast and ovarian cancer susceptibility. Semin Oncol Nurs 13 (2): 82-90, 1997. [PUBMED Abstract]
29. Mansoura MK, Collins FS: Medical implications of the genetic revolution. Journal of Health Care Law and Policy 1(2): 329-353, 1998. [PUBMED Abstract]
30. 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 [PUBMED Abstract]
31. McInerney JD: Genetics education for health professionals: a context. J Genet Couns 17 (2): 145-51, 2008. [PUBMED Abstract]
32. 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]
33. 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]
34. 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]
35. Jenkins J, Calzone KA: Establishing the essential nursing competencies for genetics and genomics. J Nurs Scholarsh 39 (1): 10-6, 2007. [PUBMED Abstract]
36. Rackover M: Establishing essential physician assistant clinical competencies guidelines for genetics and genomics. The Journal of Physician Assistant Education 18 (2): 47-8, 2007. [PUBMED Abstract]
37. American College of Medical Genetics.: Genetic susceptibility to breast and ovarian cancer: assessment, counseling and testing guidelines. New York: New York State Department of Health, American College of Medical Genetics Foundation, 1999. Also available online [PUBMED Abstract]
38. 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]
39. Resource document for curriculum development in cancer genetics education. American Society of Clinical Oncology. J Clin Oncol 15 (5): 2157-69, 1997. [PUBMED Abstract]
40. 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]
41. 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]
42. 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. [PUBMED Abstract]
43. Ormond K: Recommendations for telephone counseling. J Genet Couns 9 (1): 63-71, 2000. [PUBMED Abstract]
44. Sangha K: Assessment of the effectiveness of genetic counseling by telephone compared to a clinic visit. J Genet Couns 12 (2): 171-84, 2003. [PUBMED Abstract]
45. 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]
46. 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]
47. 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]
48. 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]
49. 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]
50. 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]
51. 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]
52. 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]
53. 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): 279-297, 1998. [PUBMED Abstract]
54. 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]
55. 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]
56. 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]
57. 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]
58. 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]
59. 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]

Components of the Risk Assessment Process

This section provides an overview of critical elements in the cancer risk assessment process.

A number of professional guidelines on the elements of cancer genetics risk assessment and counseling are available, such as the National Comprehensive Cancer Network Practice Guidelines for Genetic/Familial High Risk Assessment: Breast and Ovarian Cancer. 1 2 3 4 5 6 7 Except where noted, the discussion below is based on these guidelines.

The cancer risk assessment and counseling process, which may vary among providers, requires one or more consultative sessions and generally includes the following:

• A detailed, multifaceted assessment.
• A determination of the risk of cancer and/or indication for genetic testing based on evidence of an inherited cancer syndrome.
• Education and counseling.
• Establishment of a cancer risk management plan.

Assessment

At the outset of the initial counseling session, eliciting and addressing the consultand's perceptions and concerns about cancer and his or her expectations of the risk assessment process helps to engage the consultand in the session. This also helps inform the provider about practical or psychosocial issues and guides the focus of counseling and strategies for risk assessment.

Psychosocial assessment

The counseling process that takes place as part of a cancer risk assessment can identify factors that contribute to the consultand's perception of cancer risk and motivations to seek cancer risk assessment and genetic testing. It can also identify potential psychological issues that may need to be addressed during or beyond the session. Information collected before and/or during the session may include the following:

• Motivations for seeking cancer risk assessment.
• Beliefs about the causes of cancer.
• Experiences with cancer and feelings, perceptions, concerns, or fears related to those experiences.
• The influence of cancer experiences and perceptions on health behaviors and cancer screening practices.
• Cultural, religious, and socioeconomic background.
• General psychological issues, such as depression or anxiety.
• Coping mechanisms.
• Support systems.

Either alone or in consultation with a mental health provider, health care providers offering cancer risk counseling attempt to assess whether the individual's expectations of counseling are realistic and whether there are factors suggesting risk of adverse psychological outcomes after disclosure of risk and/or genetic status. In some cases, referral for psychotherapeutic treatment may be recommended prior to, or in lieu of, testing. 8

One study has shown that the addition of a colored ecogenetic relationship map (CEGRM) to the psychosocial assessment is feasible for assessing the social milieu in which an individual resides. 9 The CEGRM is a psychosocial assessment tool that expands the family pedigree to include a family systems genogram and ecomap. 10

Education

Assessing the concept of personal cancer risk and its relationship to genetics is complex and not completely understood. However, the evidence continues to accumulate that a set of evolving factors influences a person's concept of his or her risk, which may not be congruent with evidence-based quantitative calculations. This assessment includes the following:

• Experiential and empathetic knowledge.
• People's beliefs regarding the basis for the occurrence of cancer in themselves and/or their relatives.
• Sources of information and inaccuracies and/or misperceptions.
• Literacy level, including health and numeracy. 11 12
• Personal theories of inheritance.
• Patterns of decision making (deliberate vs. experiential). 13 14

A thorough understanding of these issues can greatly inform genetic education and counseling. These factors influence the processing of risk information and subsequent health behaviors. 14

Risk perception

The communication of risk involves the delivery of quantitative information regarding what the data indicate about the likelihood of developing illness given various preventive actions. More broadly, however, risk communication is an interactive process regarding the individual's knowledge, beliefs, emotions, and behaviors associated with risk and the risk message conveyed. Accordingly, the goal of risk communication may be to impact the individual's knowledge of risk factors, risk likelihoods, potential consequences of risk, and the benefits and drawbacks of preventive actions.

Even before the provision of risk information, the provider may anticipate that the individual already has some sense of his or her own risk of cancer. The individual may have derived this information from multiple sources, including physicians, family members, and the media. 15 This information may be more salient or emotional if a family member has recently died from cancer or if there is a new family diagnosis. 16 17 Additionally, individuals may have beliefs about how genetic susceptibility works in their family. 18 19 For example, in a family where only females have been affected with an autosomal dominant cancer susceptibility syndrome thus far, it may be difficult to convince the consultand that her sons have a 50% risk of inheriting the disease-related mutation. The social-ecological context through which risk beliefs develop and are maintained are important as potential moderators of individuals' receptivity to the cancer risk communication process and also represent the context in which individuals will return to continue ongoing decision making about how to manage their risk. 20 21 As such, individuals' beliefs, and the social context of risk, are important to discuss in education and genetic risk counseling.

Perceived risk can play an important role in an individual's decision to participate in counseling, 22 despite the fact that perceived risk often varies substantially from statistical risk estimates. 23 24 25

Clinical Evaluation

Personal health history

Consideration of the consultand's personal health history is essential in cancer risk assessment, regardless of whether the individual has a personal history of cancer. Important information to obtain about the consultand's health history includes the following:

• Current age.
• Race and ethnicity.
• History of benign or malignant tumors, surgeries, biopsies, major illnesses, medications, and reproductive history (for women, this includes age at menarche, parity, age at first live birth, age at menopause, and history of exogenous hormone use).
• Environmental exposures.
• Diet and exercise practices.
• Complementary and alternative medicine practices.
• Past and current alcohol intake and tobacco use.
• Screening practices and date of last screening exams, including imaging and/or physical examinations. 4 6 26

For consultands with a history of cancer, additional information collected includes the following:

• Site of primary tumor.
• Age at diagnosis.
• Tumor pathology.
• Treatment (e.g., surgery, chemotherapy, and radiation therapy).
• Bilaterality of disease, if applicable.
• Current surveillance plan. 4

Physical examination

In some cases, a physical exam is conducted by a qualified medical professional to determine whether the individual has physical findings suggestive of a hereditary cancer predisposition syndrome or to rule out evidence of an existing malignancy. For example, a medical professional may look for the sebaceous adenomas seen in Muir-Torre syndrome, measure the head circumference or perform a skin exam to rule out benign cutaneous features associated with Cowden syndrome, or perform a clinical breast and axillary lymph node exam on a woman undergoing a breast cancer risk assessment.

Family history

Documenting the family history

The family history is an essential tool for cancer risk assessment. The family history can be obtained via interview or written self-report; both have been found to result in equivalent information in a study that utilized a sample (n = 104) that varied widely in educational attainment. 27 One study suggests that the use of paper-based family history questionnaires prior to the appointment provides accurate family history information. 28 Details of the family health history are best summarized in the form of a family tree, or pedigree. The pedigree, a standardized graphic representation of family relationships, facilitates identification of patterns of disease transmission, recognition of the clinical characteristics associated with specific hereditary cancer syndromes, and determination of the best strategies and tools for risk assessment. 29 30 Factors suggesting inherited cancer risk were previously discussed.

Both multimedia-based (e.g., Internet) and print-based (e.g., family history questionnaires) tools are currently available to gather information about family history. In the United States, many are written at reading grade levels above 8th grade, which may reduce their effectiveness in gathering accurate family history information. On average, print-based tools have been found to be written at lower reading grade levels than multimedia-based tools. 31

Standards of pedigree nomenclature have been established. 29 30 Refer to Figure 1 for common pedigree symbols.

Documentation of a family cancer history typically includes the following:

• A minimum of three generations of relatives on both the maternal and paternal sides of the family. Information on multiple generations helps to demonstrate inheritance patterns. Hereditary cancer can be inherited from either the maternal or paternal side of the family and is often an adult-onset disease.
• Race, ancestry, and ethnicity of all grandparents. This may influence decisions about genetic testing because specific mutations in some genes are known to occur with increased frequency in some populations (founder effect).
• Information about seemingly unrelated conditions, such as birth defects, atypical skin bumps, or other nonmalignant conditions of children and adults that may aid in the diagnosis of a cancer susceptibility syndrome.
• Notation of adoption, nonpaternity (the biologic father should be included in the pedigree), consanguinity, and use of assisted reproductive technology (e.g., donor egg or sperm), when available.

A three-generation family history includes the following:

• First-degree relatives (e.g., children, brothers and sisters, and parents).
• Second-degree relatives (e.g., grandparents, aunts and uncles, nieces and nephews, grandchildren, and half-siblings).
• Third-degree relatives (e.g., first cousins, great aunts, and great uncles).
• Additional distant relatives are included if information is available, especially when there are known cancer histories among them.

For any relative with cancer, collect the following information: 32

• Primary site of each cancer, with supportive documentation of key cancers (if available) to confirm primary site and histology (e.g., pathology reports, clinical documents, and death certificates).
• Age at diagnosis for each primary cancer.
• Where the relative was diagno