Genetic counseling for breast cancer risk: general concepts, challenging themes and future directions

This article reviews the elements and process of genetic counseling for breast cancer risk, including contracting, informed consent, and psychosocial assessment and counseling. Case studies and pedigrees are utilized to illustrate current approaches to issues and challenges in the field. For example, the following topics are explored: test result interpretation, including uninformative BRCA1/2 test results; testing strategies and test selection; family concerns; patient follow-up and recontact; risk counseling in double heterozygotes; and reproductive options for mutation carriers. Concerns in specific populations such as newly diagnosed breast cancer patients, young unaffected high-risk women, and males are also reviewed. Alternative forms of and adjuncts to traditional face-to-face genetic counseling are discussed.