Evaluating the utility of personal genomic information

In evaluating the utility of human genome-wide assays, the answer will differ depending on why the question is asked. For purposes of regulating medical tests, a restrictive sense of clinical utility is used, although it may be possible to have clinical utility without changing patient's outcomes and clinical utility may vary between patients. For purposes of using limited third party or public health resources, cost effectiveness should be evaluated in a societal rather than individual context. However, for other health uses of genomic information a broader sense of overall utility should be used. Behavioral changes and increased individual awareness of health-related choices are relevant metrics for evaluating the personal utility of genomic information, even when traditional clinical benefits are not manifested. In taking account of personal utility, cost effectiveness may be calculated on an individual and societal basis. Overall measures of utility (including both restrictive clinical measures and measures of personal utility) may vary significantly between individuals depending on potential changes in lifestyle, health awareness and behaviors, family dynamics, and personal choice and interest as well as the psychological effects of disease risk perception. That interindividual variation suggests that a more expansive overall measure of utility could be used to identify individuals who are more likely to benefit from personal genomic information as well as those for whom the risks of personal information may be greater than any benefits. Genet Med 2009:11(8):570-574.