Department of Pharmacy Practice and Pharmaceutical Sciences, University of Minnesota, College of Pharmacy, Duluth, Minnesota, USA.
Essentia Health, Duluth, Minnesota, USA.
Clin Transl Sci. 2021 Nov;14(6):2117-2123. doi: 10.1111/cts.13110. Epub 2021 Jul 30.
Since the publication of the Human Genome Project, genetic information has been used as an accepted, evidence-based biomarker to optimize patient care through the delivery of precision health. Pharmacogenetics (PGx) uses information about genes that encode proteins involved in pharmacokinetics, pharmacodynamics, and hypersensitivity reactions to guide clinical decision making to optimize medication therapy selection. Clinical PGx implementation is growing from the dramatic increase in PGx studies over the last decade. However, an overwhelming lack of genetic diversity in current PGx studies is evident. This lack of diverse representation in PGx studies will impede equitable clinical implementation through potentially inappropriate application of gene-based dosing algorithms, whereas representing a missed opportunity for identification of population specific single nucleotide variants and alleles. In this review, we discuss the challenges of studying PGx in under-represented populations, highlight two successful PGx studies conducted in non-European populations, and propose a path forward through community-based participatory research for equitable PGx research and clinical translation.
自人类基因组计划发布以来,遗传信息已被用作一种公认的、基于证据的生物标志物,通过提供精准健康来优化患者护理。药物遗传学(PGx)利用与药物代谢动力学、药效学和过敏反应相关的编码蛋白的基因信息来指导临床决策,以优化药物治疗选择。随着过去十年中 PGx 研究的急剧增加,临床 PGx 的实施正在不断发展。然而,目前 PGx 研究中明显缺乏遗传多样性。这种在 PGx 研究中代表性不足的情况,可能会通过基于基因的剂量算法的不当应用,阻碍公平的临床实施,而错失确定特定人群单核苷酸变异和等位基因的机会。在这篇综述中,我们讨论了在代表性不足的人群中研究 PGx 的挑战,重点介绍了两项在非欧洲人群中进行的成功的 PGx 研究,并通过以社区为基础的参与性研究,为公平的 PGx 研究和临床转化提出了前进的道路。