약물유전자검사 결과 해석의 임상검사실 적용 권고안
Recommendations for Clinical Application of Pharmacogenetic Test Results Interpretation by Clinical Laboratories
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초록
다양한 임상 유전 검사들이 폭넓게 활용됨에 따라, 임상 약물유전학을 포함한 여러 의학분야에서 유전 검사 결과를 바탕으로 임상 진료의 질이 뚜렷하게 향상될 수 있다. 약물유전자검사의 표준 화와 적절한 결과 해석은 성공적인 임상적 활용을 위해 필수적인 단계이다. 임상 의사 결정을 정확하게 돕기 위해 다양한 지침들 중에서 Clinical Pharmacogenetics Implementation Consortium (CPIC) 가이드라인은 체계적으로 작성되어 있으며 정기적으로 개정되어 가장 많이 활용되는 근거이다. 각 약물-유전자 조합에 대한 정확한 근거를 세우는 것은 약물유전자검사 결과 해석에서 중요하지 만 복잡하고 어려운 사안이다. 본 권고안을 통해 저자들은 임상 약물유전자검사 보고서의 전문가적 해석적 판독문 작성에 도움이 될 수 있는 최신 지견 근거를 제공하고자 하였다. 본 권고안에서는 충분한 임상 근거가 있는 총 32개의 약물-유전자 조합에서 약리학적 유전형-표현형 설정에 기반한 약물 투여 권고안을 요약한다. 본 권고안은 임상검사실에서 다양한 약물 치료의 효용성을 극대화하고 부작용은 최소화할 수 있도록 약물유전학적 변이 해석을 위한 신뢰할 만하고 실용적인 근거 정보를 제시하고자 하였다.
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 pharma cogenetic 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 pharma cogenetic variant interpretation in routine clinical settings, to maximize the efficacy and minimize the side-effects of various pharmacotherapies.
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