Lab Med Online.  2022 Oct;12(4):244-261. 10.47429/lmo.2022.12.4.244.

Recommendations for Clinical Application of Pharmacogenetic Test Results Interpretation by Clinical Laboratories

Affiliations
  • 1Department of Laboratory Medicine, Yonsei University College of Medicine, Severance Hospital, Seoul, Korea
  • 2Department of Laboratory Medicine, Soonchunhyang University Seoul Hospital, Seoul, Korea
  • 3Department of Laboratory Medicine, CHA Bundang Medical Center, CHA University, Seongnam, Korea

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.

Keyword

Pharmacogenetics; Pharmacogenomic variants; Practice guideline

Figure

  • Fig. 1 유전자-약물 조합에 따른 CPIC 등급 설정 알고리즘.

  • Fig. 2 성인에서 CYP2C9, VKORC1 및 CYP4F2 유전형에 따른 warfarin 투약 권고.

  • Fig. 3 소아에서 CYP2C9, VKORC1 및 CYP4F2 유전형에 따른 warfarin 투약 권고.

  • Fig. 4 CYP2B6-efavirenz 약물 유전 검사 결과보고서 작성 예시.

  • Fig. 5 CYP3A5-tacrolimus 약물 유전 검사 결과보고서 작성 예시.

  • Fig. 6 CYP2C19-voriconazole 약물 유전 검사 결과보고서 작성 예시.

  • Fig. 7 IFNL3- PEG-IFN-α, ribavirin 약물 유전 검사 결과보고서 작성 예시.

  • Fig. 8 CYP2C9-meloxicam 약물 유전 검사 결과보고서 작성 예시.


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