Hereditary Cancer Risk

Abstract

The elucidation of the sequence of the human genome promises to usher in a new era of medicine that will result in improved diagnosis and identification of individuals at risk for hereditary conditions. In this chapter, we focus on genetic testing for hereditary cancer risk in children and families and how such testing impacts the management of children with a diagnosis of cancer or who are at risk for cancer. We provide descriptions of the major hereditary cancers and cancer syndromes affecting children, as well as cancer predisposition syndromes that occur primarily in adulthood, but for which testing in minors has been raised as a consideration. The impact on children's medical management will be reviewed, as well as data on the psychosocial effects of testing. It is important to note that a hallmark feature of an inherited predisposition to cancer is that affected individuals are usually at high risk of developing more than one type of malignancy; thus, screening and risk reduction guidelines are often targeted to more than one site or system. Because of the potential for considerable morbidity and mortality arising from hereditary cancers, the psychosocial impact may be significant for the individual and family. In the context of cancer genetic testing, we will explore two aspects of this phenomenon. The first is how genetic testing impacts children and the family unit, and the second is how a parent's own experience with cancer and the process of communicating genetic testing results for cancer predisposition may affect the child and the parent-child relationship. We will then briefly extend the discussion about controversial issues in predictive testing in children as it is relevant to cancer susceptibility testing. Finally, we will speculate about future trends and research in this ever-evolving arena of risk assessment, particularly with the rise of direct-to-consumer genetic testing, pharmacogenetics, and the increasing availability of bundled testing for multiple gene alterations associated with various traits and conditions. (PsycINFO Database Record (c) 2013 APA, all rights reserved)(chapter)