The rapid developments in genomics will unravel the role of genetic factors in common diseases. Translating this genomic information into medical care and public health is an important challenge for the next decades. Predictive genetic testing in complex diseases implies testing multiple genetic variants (genomic profiling). It is anticipated that improved prediction of disease by genomic profiling will lead to personalized medicine, in which preventive and therapeutic interventions are targeted to the genetic risk profile of the individual.
Whether genomic profiles could be useful for implementation in health care is evaluated by the following questions: Can genomic profiling identify individuals who will develop disease (what is the discriminative accuracy)? Are high-risk profiles associated with sufficiently higher disease risks to warrant differentiation in interventions (what is the degree of risk differentiation)? Will profiling lead to more efficient and effective prevention by targeting interventions (what is the population health impact)? It is not yet established what the most suitable measures for evaluating these different aspects of the usefulness of genomic profiling are.
► Evaluation of genomic profiling in the prediction of complex diseases: towards a standardized and dynamic approach
► Predictive value of testing for multiple genetic variants in multifactorial diseases: implications for the discourse on ethical, legal and societal issues