Division of Genomic Medicine, National Human Genome Research Institute, 5635 Fishers Lane, Room 4113, MSC 9305, Rockville, Maryland 20892-9305, USA.
Nat Rev Genet. 2013 Aug;14(8):549-58. doi: 10.1038/nrg3523. Epub 2013 Jul 9.
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.
全基因组关联研究（GWAS）被认为是生物医学发现的重大进展，自 2005 年以来，已经确定了约 2000 个与复杂疾病相关的稳健关联。尽管取得了这一成功，但它们在临床适用性方面仍受到相当大的质疑；这种质疑源于相关变异的效应大小适中，以及其功能后果不明确等方面。然而，GWAS 研究结果有一些有希望的例子，这些例子将或可能很快转化为临床护理。这些例子包括通过 GWAS 发现的提供强预测或预后信息的变异，或具有重要药理学意义的变异；这些例子可能说明了更广泛临床应用的有希望的方法。
