Understanding the genetically at risk: clinical, psychological and social approaches

The scientific discovery of a range of genetic mutations has meant that people with a strong family history of cancer can find out whether they are at risk of developing cancer well before they have any symptoms. Genetic testing has opened up the possibility for otherwise healthy mutation carriers to access prophylactic treatments in order to minimise their risk. These include surgery to remove at-risk body parts, treatment with cancer drugs, medical surveillance strategies, self-surveillance and change in lifestyle. Clinical experience to date has shown considerable resistance to the uptake of medical preventative measures despite their promise of risk reduction. This paper provides a summary review of the available literature on the medical, psychological, counselling and social aspects of genetic testing and the use of risk-reducing treatments by people who have been diagnosed with a genetic predisposition to cancer. It acknowledges what has been learned from these approaches but points to the similarity of the philosophical underpinnings of most of the research. It concludes by tentatively making some suggestions, informed by the literature, about new directions for guiding our understanding the genetically at risk and the factors that influence their decision-making.