Genetic Counseling Process

During the cancer genetics consultation, the patient's medical history is reviewed. If the patient has had cancer, particular attention is paid to the age at diagnosis and any other prior or synchronous malignancies. Menopausal status is noted for women with breast cancer; for those with ovarian cancer in particular, pathology is important. If the patient has colorectal cancer, any additional polyps are also recorded.

The family history is also collected, including health history for all first- and second-degree relatives—living or deceased. Maternal family history and paternal family history are equally important because of autosomal dominant inheritance. Ages at cancer diagnosis are recorded; if possible, pathology reports are obtained to verify accuracy of the patient report. This information is then used to construct a pedigree, which is a visual representation of the family history that makes a cancer pattern more easily identifiable (Fig. 3-7). The pedigree is the most valuable tool for cancer genetics risk assessment.

The genetics provider reviews the medical and family history with the patient and discusses the presence or absence of features suggestive of a hereditary cancer syndrome. In addition to an overall impression, it is sometimes possible to use one of several statistical models to predict the likelihood of detecting a mutation in one of the currently known cancer predisposition genes. The genetics provider also discusses modification of cancer risk based on the outcome of genetic testing, and how the results influence the risk for a future malignancy. Basic genetics is also overviewed, along with a discussion of how the patient's results are expected to impact other

Figure 3-7. A pedigree provides a visual representation of a family history.

family members, both medically and emotionally. Finally, the psychosocial aspects of genetic testing are reviewed, including potential risks as depression, fear, anxiety and stigma, as well as guilt, particularly if the patient is a parent. The genetics provider then discusses how various test results will affect medical management, including increased screening versus risk-reduction. Moreover, the patient is familiarized with how the options are influenced by various possible test results. Provision of this information assists the patient to assess the personal usefulness of genetic testing, to weigh the risks and benefits, and to make a personally informed choice.

If the patient chooses to undergo genetic testing, written informed consent is obtained. When the results are available, they are communicated to the patient either in person at a scheduled follow-up visit or over the telephone, depending on clinic and provider preference. For patients with an identified mutation who receive a phone disclosure, a return visit is strongly recommended to finalize the management discussion. Those without a detectable mutation are given the option of a return visit. Patients, regardless of the result, are also encouraged to maintain periodic contact with the cancer genetics service, since it is a rapidly advancing field.

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