Alessandrini Marco, Chaudhry Mamoonah, Dodgen Tyren M, Pepper Michael S
Department of Immunology, Faculty of Health Sciences, and Institute for Cellular and Molecular Medicine, South African Medical Research Council Extramural Unit for Stem Cell Research and Therapy, University of Pretoria , Pretoria, South Africa .
OMICS. 2016 Oct;20(10):593-603. doi: 10.1089/omi.2016.0122. Epub 2016 Sep 19.
In a move indicative of the enthusiastic support of precision medicine, the U.S. President Barack Obama announced the Precision Medicine Initiative in January 2015. The global precision medicine ecosystem is, thus, receiving generous support from the United States ($215 million), and numerous other governments have followed suit. In the context of precision medicine, drug treatment and prediction of its outcomes have been important for nearly six decades in the field of pharmacogenomics. The field offers an elegant solution for minimizing the effects and occurrence of adverse drug reactions (ADRs). The Clinical Pharmacogenetics Implementation Consortium (CPIC) plays an important role in this context, and it aims at specifically guiding the translation of clinically relevant and evidence-based pharmacogenomics research. In this forward-looking analysis, we make particular reference to several of the CPIC guidelines and their role in guiding the treatment of highly relevant diseases, namely cardiovascular disease, major depressive disorder, cancer, and human immunodeficiency virus, with a view to predicting and managing ADRs. In addition, we provide a list of the top 10 crosscutting opportunities and challenges facing the fields of precision medicine and pharmacogenomics, which have broad applicability independent of the drug class involved. Many of these opportunities and challenges pertain to infrastructure, study design, policy, and science culture in the early 21st century. Ultimately, rational pharmacogenomics study design and the acquisition of comprehensive phenotypic data that proportionately match the genomics data should be an imperative as we move forward toward global precision medicine.
2015年1月，美国总统巴拉克·奥巴马宣布了精准医学计划，此举表明了对精准医学的热情支持。因此，全球精准医学生态系统得到了美国的慷慨资助（2.15亿美元），许多其他国家的政府也纷纷效仿。在精准医学背景下，药物治疗及其结果预测在药物基因组学领域近六十年来一直很重要。该领域为最大限度地减少药物不良反应（ADR）的影响和发生提供了一个精妙的解决方案。临床药物基因组学实施联盟（CPIC）在这方面发挥着重要作用，其目标是专门指导具有临床相关性和循证基础的药物基因组学研究的转化。在这项前瞻性分析中，我们特别参考了CPIC的几项指南及其在指导治疗高度相关疾病（即心血管疾病、重度抑郁症、癌症和人类免疫缺陷病毒）方面的作用，以预测和管理药物不良反应。此外，我们列出了精准医学和药物基因组学领域面临的十大交叉机遇与挑战，这些机遇与挑战具有广泛的适用性，与所涉及的药物类别无关。其中许多机遇与挑战涉及21世纪初的基础设施、研究设计、政策和科学文化。最终，随着我们迈向全球精准医学，合理的药物基因组学研究设计以及获取与基因组数据相称的全面表型数据应该成为当务之急。
