Clinical translation of findings from genome-wide association studies (GWAS)

Identification of susceptibility variants that underlie many disease processes has increased confidence that this information can be translated into clinically beneficial improvements in patient care. There are two principal routes through which such translation might be affected. In the first, identification of novel causal pathways provides new opportunities for clinical advances of generic benefit to all those suffering from (or at risk for) the disease concerned. Identification of therapeutic targets can lead to novel therapeutic agents. Identification of biomarkers improves disease prediction and monitoring of disease progression and treatment response. Identification of environmental contributors to disease enables disease prevention measures. Even modest but genuine genotype-phenotype associations can offer new translational opportunities through the identification of novel modifiable pathways. The second translational route lies through using knowledge of individual patterns of disease predisposition to develop more personalized approaches to disease management, including using personalized diagnostics and prognostics to enhance therapeutic optimization. However, variants so far identified explain only a small proportion of individual variation in disease risk. Consequently, for most individuals, genetic profiling using currently available markers provides only limited information about disease risk.