Lab Med Online.  2016 Oct;6(4):193-213. 10.3343/lmo.2016.6.4.193.

Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines Part 2

  • 1Department of Laboratory Medicine, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea.
  • 2Department of Laboratory Medicine, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea.
  • 3Department of Laboratory Medicine, School of Medicine, Pusan National University, Busan, Korea.
  • 4Department of Laboratory Medicine, Seoul National University Hospital and College of Medicine, Seoul, Korea.
  • 5Department of Laboratory Medicine, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.
  • 6Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
  • 7Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
  • 8Department of Laboratory Medicine, Konyang University Hospital, College of Medicine, Konyang University, Daejeon, Korea.
  • 9Department of Laboratory Medicine, Veterans Health Service Medical Center, Seoul, Korea.
  • 10Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
  • 11Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea.


Pharmacogenetics is a rapidly evolving field and the number of pharmacogenetic tests for clinical use is steadily increasing. However, incorrect or inadequate implementation of pharmacogenetic tests in clinical practice may result in a rise in medical costs and adverse outcomes in patients. This document suggests guidelines for the clinical application, interpretation, and reporting of pharmacogenetic test results based on a literature review and the collection of evidence-based expert opinions. The clinical laboratory practice guidelines encompass the clinical pharmacogenetic tests covered by public medical insurance in Korea. Technical, ethical, and regulatory issues related to clinical pharmacogenetic tests have also been addressed. In particular, this document comprises the following pharmacogenetic tests: CYP2C9 and VKORC1 for warfarin, CYP2C19 for clopidogrel, CYP2D6 for tricyclic antidepressants, codeine, tamoxifen, and atomoxetine, NAT2 for isoniazid, UGT1A1 for irinotecan, TPMT for thiopurines, EGFR for tyrosine kinase inhibitors, ERBB2 (HER2) for erb-b2 receptor tyrosine kinase 2-targeted therapy, and KRAS for anti-epidermal growth factor receptor drugs. These guidelines would help improve the usefulness of pharmacogenetic tests in routine clinical settings.


Pharmacogenetics; Genetic testing; Practice guidelines; Clinical laboratory services
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