Empey Philip E, Karnes Jason H, Johnson Julie A
Center for Clinical Pharmaceutical Sciences, School of Pharmacy; and Institute for Precision Medicine, University of Pittsburgh, Pittsburgh, Pennsylvania, USA; email:
Department of Pharmacy Practice and Science, R. Ken Coit College of Pharmacy, University of Arizona, Tucson, Arizona, USA.
Annu Rev Pharmacol Toxicol. 2025 Jan;65(1):111-130. doi: 10.1146/annurev-pharmtox-061724-080718.
Pharmacogenetic variation is common and an established driver of response for many drugs. There has been tremendous progress in pharmacogenetics knowledge over the last 30 years and in clinical implementation of that knowledge over the last 15 years. But there have also been many examples where translation has stalled because of the lack of available data sets for discovery or validation research. The recent availability of data from very large cohorts with linked genetic, electronic health record, and other data promises new opportunities to advance pharmacogenetics research. This review presents the stages from pharmacogenetics discovery to widespread clinical adoption using prominent gene-drug pairs that have been implemented into clinical practice as examples. We discuss the opportunities that the Research Program and other large biorepositories with genomic and linked electronic health record data present in advancing and accelerating the translation of pharmacogenetics into clinical practice.
药物遗传学变异很常见，并且是许多药物反应的既定驱动因素。在过去30年里，药物遗传学知识取得了巨大进展，在过去15年里，该知识在临床应用方面也取得了巨大进展。但也有许多例子表明，由于缺乏用于发现或验证研究的可用数据集，转化工作陷入停滞。最近，来自具有关联基因、电子健康记录和其他数据的超大型队列的数据为推进药物遗传学研究带来了新机遇。本综述以已应用于临床实践的突出基因-药物对为例，介绍了从药物遗传学发现到广泛临床应用的各个阶段。我们讨论了精准医疗项目和其他拥有基因组及关联电子健康记录数据的大型生物样本库在推进和加速药物遗传学向临床实践转化方面所带来的机遇。
