Psychosocial issues of a population approach to high genetic risk identification: Behavioural, emotional and informed choice issues

David P. French, Anthony Howell, D. Gareth Evans

To allow women at high genetic risk of breast cancer to benefit from prevention or early prevention strategies, a screening programme is required to identify them. The present review considers the likelihood of key outcomes that would arise from such a programme, in relation to behavioural, emotional and informed choice outcomes. The likelihood of outcomes in each category is considered in relation to the limited direct evidence and relevant indirect evidence, given the dearth of studies that have directly studied the effects of communication of personal genetic risk of breast cancer. Overall, there is promise that such a programme would have several behavioural benefits, such as good uptake of increased screening in women at high risk but little effect on screening in women at low risk. The available evidence suggests that major adverse effects on emotional outcomes are unlikely. There is very limited evidence in this developing area on the extent to which decisions of women offered breast cancer risk estimation will be fully informed choices. Recommendations are made for increasing benefits and reducing harms of population-wide breast cancer risk estimation in light of current evidence. Key research gaps are identified.