The Center for Bioinformatics and Computational Biology, The Institute of Biomedical Sciences and School of Life Sciences, School of Statistics, East China Normal University, Shanghai 200241, China; Guangdong Provincial Key Laboratory of Proteomics, School of Basic Medical Sciences, Southern Medical University, Guangzhou, China.
Division of Bioinformatics and Biostatistics, National Center for Toxicological Research, US Food and Drug Administration, 3900 NCTR Rd., Jefferson, AR 72079, USA.
Drug Discov Today. 2021 Aug;26(8):1776-1783. doi: 10.1016/j.drudis.2021.04.015. Epub 2021 Apr 20.
Pharmacogenomics (PGx) has essential roles in identifying optimal drug responders, optimizing dosage regimens and avoiding adverse events. Population-specific therapeutic interventions that tackle the genetic root causes of clinical outcomes are an important precision medicine strategy. In this perspective, we discuss next-generation sequencing genotyping and its significance for population-specific PGx applications. We emphasize the potential of NGS for preemptive pharmacogenotyping, which is crucial to population-specific clinical studies and patient care. We also provide examples that use publicly available population-based genomics data for population-specific PGx studies. Last, we discuss the remaining challenges and regulatory efforts towards improvements in this field.
药物基因组学（PGx）在确定最佳药物反应者、优化剂量方案和避免不良反应方面具有重要作用。针对临床结果遗传根源的特定人群的治疗干预是精准医学的重要策略。在这个观点中，我们讨论了下一代测序基因分型及其对特定人群 PGx 应用的意义。我们强调了 NGS 用于先发制人的药物基因分型的潜力，这对于特定人群的临床研究和患者护理至关重要。我们还提供了使用公开可用的基于人群的基因组学数据进行特定人群 PGx 研究的示例。最后，我们讨论了该领域改进方面的剩余挑战和监管努力。
