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.
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, scopes, and standards of practice.[37-42]
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.[43-49] 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.[50-54]
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.[56-59] 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
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