약물유전자검사 결과 해석의 임상검사실 적용 권고안

Abstract

As various clinical genetic tests become widely available, the quality of clinical practice in several medical fields, including clinical pharmacogenetics, can be dramatically improved based on genetic test results. Importantly, standardization and the appropriate result interpretation of pharmacogenetic tests are crucial steps toward successful clinical implementation. Among various guidelines published to support accurate clinical decisions, the most commonly utilized evidence is systematically organized in the Clinical Pharmacogenetics Implementation Consortium guidelines, which are regularly updated. The establishment of accurate evidence for each drug-gene pair in pharmacogenetic test result interpretation is essential, but is a complicated and challenging issue. Herein, we provide up-to-date evidence for preparing professional interpretative comments in clinical pharmacogenetic test reports. We provide therapeutic recommendations based on pharmacological genotype-phenotype annotations for a total of 32 drug-gene pairs with sufficient clinical evidence. This document aims to provide reliable evidence and practical information for pharmacogenetic variant interpretation in routine clinical settings, to maximize the efficacy and minimize the side-effects of various pharmacotherapies.