Bringing genome-wide association findings into clinical use

Genome-wide association studies (GWASs) have been heralded as a major advance in biomedical discovery, having identified ~2,000 robust associations with complex diseases since 2005. Despite this success, they have met considerable scepticism regarding their clinical applicability; this scepticism arises from such aspects as the modest effect sizes of associated variants and their unclear functional consequences. There are, however, promising examples of GWAS findings that will or that may soon be translated into clinical care. These examples include variants identified through GWASs that provide strongly predictive or prognostic information or that have important pharmacological implications; these examples may illustrate promising approaches to wider clinical application.

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Genomic Competencies

Experts from the disciplines listed below have tagged this resource as fulfulling genomic competencies.


  • Basic Genetic Concepts
    • B1:   To demonstrate an understanding of the basic genetic/genomic concepts and nomenclature
    • B3:   To identify drug and disease associated genetic variations that facilitate development of prevention, diagnostic and treatment strategies and appreciate there are differences in testing methodologies and are aware of the need to explore these differences these differences in drug literature evaluation
  • Genetics and Disease
    • G2:   To assess the difference between clinical diagnosis of disease and identification of genetic predisposition to disease (genetic variation is not strictly correlated with disease manifestation)
  • Pharmacogenetics/Pharmacogenomics
    • P1:   To demonstrate an understanding of how genetic variation in a large number of proteins, including drug transporters, drug metabolizing enzymes, direct protein targets of drugs, and other proteins (e.g. signal transduction proteins) influence pharmacokinetics and pharmacodynamics related to pharmacologic effect and drug response