Are we ready to screen for inherited susceptibility to cancer?

Abstract

The discovery of inherited gene mutations that increase the risk of certain cancers could greatly expand the use of predictive genetic testing in healthy individuals. In families with hereditary forms of cancer, the use of genetic tests to determine whether family members have inherited susceptibility mutations (ISMs) may improve outcome. Even within high-risk families, questions remain about the role of other genetic, nutritional, and environmental factors in the development of cancer, the value of monitoring people with ISMs, and the safety and efficacy of preemptive interventions. Before screening is undertaken in the general population, these questions must be addressed. Also, the frequency and penetrance of ISMs in the population at large must be determined, as well as the safety and effectiveness of screening. Lastly, mechanisms need to be established to ensure that those offered screening give full, informed, autonomous consent and that laboratories involved in testing meet quality standards.