Investigation and management of patients at high risk of developing cancer

Recent developments in cancer genetics have revealed genes that render individuals susceptible to cancer. These families have a unique set of new problems and benefits that must be thought through for the potential good to be accrued from these discoveries. Individual patients seek early diagnosis and prevention strategies that challenge the limits of current knowledge. Some available methods have not yet been evaluated. There is a need for the evidence to support plans of care, and consistency is required from one centre to the next in the advice given. These familial cancers are often different from the more common sporadic cases, and so traditional treatments need to be tested again in the context of the new genetic knowledge. Three groups of cancers, breast, ovary and colon, have been used to illustrate the issues surrounding these high risk families, their investigation and care. In applying new strategies to these patients, ethical issues arise that are new to the medical world, and must be considered by the lay public. It is up to the medical profession, patients and society to use this knowledge to give benefit to a vulnerable group, and not to give unaffordable hopes and unnecessary anxieties.