source: National Health and Medical Research Council
Between five and ten per cent of the common cancers in Australians are attributable to an inherited cancer predisposition. Such cancers are due to heritable (germline) mutations in cancer susceptibility genes. Recently many of the responsible genes have been identified and characterised. The improved ability to detect individuals at high risk through analysis of their family history and/or gene testing has been accompanied by major advances in screening, surveillance and prevention. Thus, the identification of individuals at high genetic risk of cancer, and the application of these advances in the management of such individuals, offers a real prospect of making an impact on national goals of cancer control. A need for national guidelines on familial cancer was recognised because of heightened public awareness, demand from those who perceive themselves to be at increased risk because of family history, and concerns about a potential proliferation of unregulated and unevaluated genetic testing for cancer susceptibility. The organisation of familial cancer services presents particular challenges for health services because of the rapid evolution of knowledge within the field, and the potential for significant morbidity from inappropriate genetic testing or advice.