Rim John Hoon, Kim Young-Gon, Kim Sollip, Choi Rihwa, Lee Jee-Soo, Park Seungman, Lee Woochang, Song Eun Young, Lee Soo-Youn, Chun Sail
Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.
Ann Lab Med. 2025 Mar 1;45(2):121-132. doi: 10.3343/alm.2024.0572. Epub 2024 Dec 17.
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 for 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.
在精准医学时代，药物遗传学在解决个体间药物反应差异方面具有巨大潜力。尽管药物遗传学多年来一直是研究重点，并已制定了多项正式指南，但在包括韩国在内的大多数国家，其临床应用仍局限于几种基因-药物组合。实施延迟的主要原因是基因分型的技术挑战以及医疗服务提供者之间的知识差距；因此，临床实验室在药物遗传学的及时应用中起着关键作用。本文介绍了韩国检验医学学会发布的《临床药物遗传学检测与应用指南》的更新内容，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信息。本指南整理并描述了有关命名法、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。
