Ann Lab Med.  2017 Mar;37(2):180-193. 10.3343/alm.2017.37.2.180.

Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines

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


Pharmacogenetic testing for clinical applications is steadily increasing. Correct and adequate use of pharmacogenetic tests is important to reduce unnecessary medical costs and adverse patient outcomes. This document contains recommended pharmacogenetic testing guidelines for clinical application, interpretation, and result reporting through a literature review and evidence-based expert opinions for the clinical pharmacogenetic testing covered by public medical insurance in Korea. This document aims to improve the utility of pharmacogenetic testing in routine clinical settings.


Clinical laboratory; Korea; Pharmacogenetics; Testing; Practice guideline

MeSH Terms

Anticoagulants/therapeutic use
Antidepressive Agents/therapeutic use
Antimetabolites, Antineoplastic/therapeutic use
Antitubercular Agents/therapeutic use
Arylamine N-Acetyltransferase/genetics
Coronary Artery Disease/drug therapy/genetics
Cytochrome P-450 CYP2C19/genetics
Cytochrome P-450 CYP2C9/genetics
Cytochrome P-450 CYP2D6/genetics
Depressive Disorder/drug therapy/genetics
Isoniazid/therapeutic use
Laboratories, Hospital/standards
Pharmacogenomic Testing/*methods/standards
Platelet Aggregation Inhibitors/therapeutic use
Pulmonary Embolism/drug therapy/genetics
Ticlopidine/analogs & derivatives/therapeutic use
Tuberculosis/drug therapy/genetics
Vitamin K Epoxide Reductases/genetics
Warfarin/therapeutic use
Antidepressive Agents
Antimetabolites, Antineoplastic
Antitubercular Agents
Arylamine N-Acetyltransferase
Cytochrome P-450 CYP2C9
Cytochrome P-450 CYP2C19
Cytochrome P-450 CYP2D6
Platelet Aggregation Inhibitors
Vitamin K Epoxide Reductases
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