Evidence and resources to implement pharmacogenetic knowledge for precision medicine
Evidence and resources to implement pharmacogenetic knowledge for precision medicine
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DOI：
10.2146/ajhp150977
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发表时间：
2016-12-01
影响因子：
2.7
通讯作者：
Klein, Teri E.
中科院分区：
文献类型：
--
作者：
Caudle, Kelly E.;Gammal, Roseann S.;Klein, Teri E.
目的。描述了药物遗传学数据管理和传播的现状，并回顾了在临床实践中应用药物遗传学数据的循证资源。总结。尽管在理解遗传变异与药物反应和效果变异之间的联系方面取得了重大科学进展，但药物遗传学在临床实践中的实施相对缓慢。阻碍采用遗传数据来指导药物使用的因素之一是缺乏如何根据现有证据将基因测试结果转化为临床行动的知识。其他实施挑战包括为药物遗传学数据的常规临床实施选择适当的证据阈值的争议，以及由于证明药物遗传学测试的效用的大型随机对照试验不可行或被认为没有必要建立临床效用，因此编译科学数据以支持临床建议的困难。临床药物遗传学实施联盟 (CPIC) 和药物基因组学知识库 (PharmGKB) 等组织系统地评估药物基因组学联系的新证据，并发布基于证据的处方建议，为临床实践提供信息。 CPIC 和 PharmGKB 都提供在线资源，有助于解释基因检测结果，并为特定基因-药物对提供处方建议。结论。 CPIC 和 PharmGKB 等组织提供的资源使用标准化方法来评估文献并为越来越多的基因药物对提供临床指导，这对于将药物遗传学应用于常规临床实践至关重要。
Purpose. The current state of pharmacogenetic data curation and dissemination is described, and evidence-based resources for applying pharmacogenetic data in clinical practice are reviewed.Summary. Implementation of pharmacogenetics in clinical practice has been relatively slow despite substantial scientific progress in understanding linkages between genetic variation and variability of drug response and effect. One factor that has inhibited the adoption of genetic data to guide medication use is a lack of knowledge of how to translate genetic test results into clinical action based on currently available evidence. Other implementation challenges include controversy over selection of appropriate evidentiary thresholds for routine clinical implementation of pharmacogenetic data and the difficulty of compiling scientific data to support clinical recommendations given that large randomized controlled trials to demonstrate the utility of pharmacogenetic testing are not feasible or are not considered necessary to establish clinical utility. Organizations such as the Clinical Pharmacogenetics Implementation Consortium (CPIC) and the Pharmacogenomics Knowledgebase (PharmGKB) systematically evaluate emerging evidence of pharmacogenomic linkages and publish evidence based prescribing recommendations to inform clinical practice. Both CPIC and PharmGKB provide online resources that facilitate the interpretation of genetic test results and provide prescribing recommendations for specific gene-drug pairs.Conclusion. Resources provided by organizations such as CPIC and PharmGKB, which use standardized approaches to evaluate the literature and provide clinical guidance for a growing number of gene-drug pairs, are essential for the implementation of pharmacogenetics into routine clinical practice.