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National Cancer Institute
Ultima Vez Modificado: 2 de noviembre del 2012
[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.
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.
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.
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 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:
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:
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
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
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.
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.
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:
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
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:
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
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
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:
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.
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
For any relative with cancer, collect the following information: 32
Endocrine System Cancers
Head and Neck Cancers
Urinary Tract Cancers
Bone Marrow Transplants
General Treatment Concerns
Newly Diagnosed Patients
Causes and Prevention
Legal and Financial Information for Patients
Cancer Resource List
Resources for Young Adults