Genetic evaluation for women at increased risk

Abstract

The US Preventative Services Task Force recommends providers perform a risk assessment in order to identify those patients who have a personal and/or family history of cancer that may be associated with a hereditary cancer predisposition. The collection of an accurate, cancer-focused family history is the foundation of this risk assessment. Professional organizations have created guidelines outlining when patients should be referred to a provider with expertise in hereditary cancer genetics for further risk assessment. Debate exists over which health care providers have this expertise and who should ideally provide these services, but most agree that patients and providers are best served when providers collaborate with one another as part of multidisciplinary teams with open communication. The cancer genetic counseling process has been described as a multistep communication process that includes intake, risk assessment, pretest counseling and informed consent, and result disclosure and interpretation. Though the focus of this volume is the management of individuals with BRCA mutations, any current discussion of hereditary breast and ovarian cancer would not be complete without mention of other rare high-penetrance and moderate-penetrance genes that are now included in many routine clinical genetic testing options for hereditary breast and ovarian cancer. Thus, the available data about these genes will also be summarized.