Guest Editorial on Public Health Aspects of Breast Cancer Gene Testing in Canada - CDIC Vol. The technology of medicine has outrun its sociology. In this issue of Chronic Diseases in Canada , Mark Elwood provides a comprehensive overview of the state of knowledge related to the risks, interventions, selection criteria for testing and potential models to address the need and demand for breast cancer gene testing. The risk of cancer in gene mutation carriers may be substantially lower in more recent, population-based studies than in older, selected, multicase family studies. The frequency of mutation detection in cancer patients or families with a strong history of cancer is lower in more recent, population-based studies.
False positives occur due to identification of mutations of no known significance.
Evidence-based screening is variably available and accessible. The value of interventions based upon detection of breast cancer susceptibility mutation is at a low level of evidence. Of those women who pursue counselling based upon family history, many have a grossly overinflated perception of risk, heightened anxiety and a lack of understanding of the benefits, limitations and risks of genetic testing. The exaggerated perception of risk may not be modified by thorough and detailed counselling. Publicity regarding genetic factors conferring high risk of developing cancer may influence participation in prevention and early detection programs favourably or adversely, depending upon a perception of risk that may or may not be justified.