Genetic Counseling

The development of technology to locate and isolate cancer susceptibility genes has brought together the fields of oncology, cancer control, genetics, and genetic counseling to create a new specialty of cancer risk counseling whose goal is to communicate more accurate information about personal cancer risk profiles based on personal and family histories.13 The field of genetic counseling has evolved and plays a growing role in the evaluation and risk estimation of families with known or suspected genetic conditions. The traditional elements of genetic counseling have included (1) an accurate diagnosis of the genetic condition or predisposition; (2) an estimate of the probable cause of the disorder; (3) an estimation of risk of future occurrences of the condition within the family based on the pattern of inheritance of the disease; (4) communication of an understanding of the genetic and medical facts of the disorder; (5) an exploration of appropriate courses of action to manage the genetic risk and to alter the risk of occurrence; and (6) ways of coping with the disorder or risk of the disorder.14,15 Building on this tradition, cancel risk counseling is an interactive education and communica-

TABLE 25.3. Basic elements of cancer genetic counseling.

• Documentation of extended family medical history

• Development of a family pedigree

• Collection of medical records from proband and appropriate family members

• Collection of information about other risk factors (biologic, environmental, lifestyle)

• Careful assessment of risk

• Education about cancer, genetics, and preventive options

• Communication of risk estimate in clear and simple language

• Development of individualized prevention and surveillance strategy

• Attention to emotional and social needs and concerns of proband and family

• Long-term follow-up and support tion process whose purpose is to evaluate an individual's potential risk of developing specific forms of cancer based on inherited susceptibilities, physiologic modulators, and lifestyle and environmental factors that contribute to cancer risk and to communicate this information in a comprehensible and sensitive way (Table 25.3). Familial cancer risk counseling uses a broad approach to place genetic risk in the context of other related risk factors, thereby customizing it to the experiences of the individual. In addition to addressing genetic risk and the clinical management of that risk, cancer risk counseling also considers the psychosocial needs of the individual and the family. Typically, the process involves the collection of pertinent medical, familial, and lifestyle information, the documentation of cancer diagnoses, the delivery of background information about cancer risks and cancer genetics, the identification of specific hereditary cancer syndromes, and the transmission of personalized risk estimates.16 The ultimate goal of the education and communication process is to help the individual and other family members make informed and appropriate decisions about genetic testing options and strategies for cancer prevention and/or early detection.

Genetic counseling for genetic cancer risk represents a new direction in genetics and has raised some particularly interesting and difficult issues. Risk estimates for cancer may be either empirical or based on actual gene identification but are typically complex and sophisticated, challenging the communication skills of the counseling team. The nature of the counseling situation often requires the involvement of other family members to supply missing information or even for genetic screening, a situation that may compromise privacy and confidentiality within the family. The options offered by the counseling team, including genetic testing, may involve emotional and ethical dilemmas for which there are no clear answers. Despite these problematic issues, cancer risk counseling is a growing field that has tremendous potential to assist families in understanding their risk for cancer and in making informed choices for prevention.

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