Urban Thomas J
Duke University, Durham, NC, USA.
Mt Sinai J Med. 2010 Mar-Apr;77(2):133-9. doi: 10.1002/msj.20168.
Pharmacogenetics is the study of how genetic variation influences the response to drugs. The concepts of race, ethnicity, and ancestry have long had a strong influence on pharmacogenetic discovery and on our understanding of population-level differences in drug response. The primary goal of pharmacogenetics, however, is to identify the individual genetic determinants of drug activity so that therapy can be tailored to the individual patient. This article describes the relationship between the concepts of race, ethnicity, and ancestry and how these concepts have been applied to pharmacogenetics, and it provides examples of the benefits and pitfalls associated with the use of racial or ethnic labels in genetic studies. The future of pharmacogenetics, including the study of rare genetic variation and what this means for racial or ethnic disparities in pharmacogenetic discovery, is also discussed.
药物遗传学是研究基因变异如何影响药物反应的学科。种族、民族和祖先的概念长期以来对药物遗传学的发现以及我们对药物反应中人群水平差异的理解产生了重大影响。然而，药物遗传学的主要目标是确定药物活性的个体基因决定因素，以便能够为个体患者量身定制治疗方案。本文描述了种族、民族和祖先概念之间的关系，以及这些概念如何应用于药物遗传学，并提供了在基因研究中使用种族或民族标签相关的益处和陷阱的示例。还讨论了药物遗传学的未来，包括罕见基因变异的研究以及这对药物遗传学发现中的种族或民族差异意味着什么。
