임상약물유전학 검사와 적용: 진단검사의학 임상검사 개정 지침(2024)

Abstract

In the era of precision medicine, pharmacogenetics holds huge potential as it deals with the inter-individual variability in drug responses. Although pharmacogenetics has been focused for many years producing dozens of formal guidelines, its clinical adoption is still limited to several gene–drug combinations in most countries, including Korea. Given that the main causes of its delayed implementation are technical challenges in genotyping and knowledge gaps among healthcare providers, the role of clinical laboratories is critical for the timely implementation of pharmacogenetics. This present version of the guidelines is an update of the previous one and aims to provide necessary information for clinical laboratories planning to implement or expand their pharmacogenetic tests. Current knowledge regarding nomenclature, gene–drug relationships, genotyping technologies, clinical delivery methods, quality control, and reimbursements were curated and are described herein.