Genetic Counseling for Inherited Cancer Syndromes

Abstract

While all cancers are genetic, only a fraction are part of a hereditary disorder. This small yet significant percentage of inherited cancers represent a disease of families—not individuals—whose members are at an increased risk for developing cancer due to genetic alterations passed through the germline. Genetic counseling is an integral service that should be provided to each patient or family with a known or suspected inherited cancer. The role of the genetic counselor in the medical evaluation and management of high-risk cancer patients is vast— from uncovering and analyzing the family medical history, to patient education, to identifying and interpreting genetic tests, to enlisting the patient in clinical trials and support groups, all while guiding the patient through powerful emotional responses to each of these steps. By participating in the genetic counseling process, patients receive information that may drastically influence their cancer screening and management plan, as well as their risk perception and quality of life.2 The medical and psychosocial benefits from genetic counseling may extend beyond the patient to include relatives who may have otherwise remained anonymous within the healthcare system. Many medical centers employ specially trained genetic counselors, or at the least a well-designed family history questionnaire, to assist in the identification of patients who are at risk for inherited cancers. Once a high-risk patient or family is identified, the genetic evaluation and counseling process should begin. During this time, the cancer genetic counselor assumes the primary role in patient education about cancer genetics, inheritance, genetic testing, and heightened surveillance programs. The genetic counselor also identifies and interprets genetic test results and provides referrals to support groups and specialists while addressing any psychological issues than may arise. A general outline of the genetic counseling process is presented in Figure 2.1. 2