Cancer Genetics Risk Assessment and Counseling (PDQ®): Genetics - Health Professional Information [NCI] - 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:
There are several types of plasma cell neoplasms. These diseases are all associated with a monoclonal (or myeloma) protein (M protein). They include monoclonal gammopathy of undetermined significance (MGUS), isolated plasmacytoma of the bone, extramedullary plasmacytoma, and multiple myeloma.
Incidence and Mortality
Estimated new cases and deaths from multiple myeloma in the United States in 2012:
New cases: 21,700.
Clinical Presentation and Evaluation
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:
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.[19,20,21,22,23,24]