Bionest Partners, New York, NY 10005, USA.
Curr Drug Metab. 2011 Jun;12(5):460-86. doi: 10.2174/138920011795495268.
Over 10 million SNPs have been discovered to date as the result of both a private and public effort in the past two decades. Extensive investigations on SNPs have been performed to assess clinical applications for pharmacogenomics and Personalized Medicine. Recently, around the 10(th) anniversary of the first publication by the Human Genome Project, Hamburg and Collins addressed questions regarding the progress of the genomics field and its impact on pharmacogenomics / Personalized Medicine. Similar questions remain around the potential link of SNPs to Personalized Medicine applications, and the extent to which they have impacted "real world" clinical practices. Built upon these previous efforts, and to achieve our objectives of describing and assessing the role of SNPs and their impact on Personalized Medicine, this article analyzes and summarizes the clinical relevance, molecular mechanisms, clinical evidence, and preliminary regulatory and clinical guideline information of relevant SNPs. In addition, it focuses on two applications directly related to Personalized Medicine drug therapeutics: predictive biomarkers for patient stratification and dose selection. In summary, this article attempts to provide a general and comprehensive view of the role of SNPs in pharmacogenomics and Personalized Medicine, as well as a practical view of their impact on clinical practice today.
迄今为止，由于过去二十年中私人和公共努力的结果，已经发现了超过 1000 万个 SNP。已经对 SNPs 进行了广泛的研究，以评估其在药物基因组学和个性化医学中的临床应用。最近，在人类基因组计划的第一篇论文发表十周年之际，Hamburg 和 Collins 探讨了基因组学领域的进展及其对药物基因组学/个性化医学的影响。关于 SNPs 与个性化医学应用的潜在联系以及它们在多大程度上影响“现实世界”临床实践的问题仍然存在。在此前工作的基础上，为了描述和评估 SNPs 的作用及其对个性化医学的影响，本文分析和总结了相关 SNPs 的临床相关性、分子机制、临床证据以及初步的监管和临床指南信息。此外，它还重点关注了与个性化医学药物治疗直接相关的两个应用：用于患者分层和剂量选择的预测生物标志物。总之，本文试图提供 SNPs 在药物基因组学和个性化医学中的作用的一般和全面的观点，以及它们对当今临床实践的影响的实际观点。
