Steering a course around the genetic iceberg

Abstract

A US company is now marketing worldwide, via the Internet, genetic testing for predisposition to breast and ovarian cancer. This paper explores some of the divergent concerns about the implications of private genetic testing for the United States and United Kingdom, with their differing health care systems. As the UK National Health Service faces calls for expansion in its genetic services to meet growing demand, there is now a need for evaluation of the costs and effectiveness of such services so that they may be efficiently targeted to those women who can benefit most from them. In the cases of breast and ovarian cancer, it is relatively straightforward to calculate the benefits in terms of added life expectancy and health-related quality of life resulting from earlier diagnosis and treatment of affected women, but these women are likely to be a small proportion of the total number of women who are referred or self-refer to genetic services. This paper asks how we are to measure and value the benefits of information about risk of cancer to a particular woman or to members of her family; how we are to measure and value the benefits of effective counselling, which encourages autonomous, informed decision-making about whether or not to undergo genetic testing, and which facilitates comprehension of complex results; and ultimately, in the face of advances in genetic science, how we are to steer the NHS around the genetic iceberg.