In the era of precision medicine, pharmacogenetics has substantial potential for addressing inter-individual variability in drug responses. Although pharmacogenetics has been a research focus for many years, resulting in the establishment of several formal guidelines, its clinical implementation remains limited to several gene-drug combinations in most countries, including Korea. The main causes of delayed implementation are technical challenges in genotyping and knowledge gaps among healthcare providers; therefore, clinical laboratories play a critical role in the timely implementation of pharmacogenetics. This paper presents an update of the Clinical Pharmacogenetic Testing and Application guidelines issued by the Korean Society of Laboratory Medicine and aims to provide the necessary information for clinical laboratories planning to implement or expand their pharmacogenetic testing. Current knowledge regarding nomenclature, gene-drug relationships, genotyping technologies, testing strategies, methods for clinically relevant information delivery, QC, and reimbursements has been curated and described in this guideline.

中文翻译：

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临床药物遗传学检测和应用：大韩检验医学会 2024 年更新指南。


在精准医学时代，药物遗传学在解决药物反应的个体间变异性方面具有巨大潜力。尽管药物遗传学多年来一直是研究重点，从而建立了几个正式指南，但其临床实施仍然局限于包括韩国在内的大多数国家的几种基因-药物组合。延迟实施的主要原因是基因分型方面的技术挑战和医疗保健提供者之间的知识差距;因此，临床实验室在及时实施药物遗传学方面发挥着关键作用。本文介绍了大韩检验医学会发布的临床药物遗传学检测和应用指南的更新，旨在为计划实施或扩大其药物遗传学检测的临床实验室提供必要的信息。本指南整理和描述了有关命名法、基因-药物关系、基因分型技术、检测策略、临床相关信息传递方法、质量控制和报销的当前知识。