Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines

Sollip Kim; Yeo Min Yun; Hyo Jin Chae; Hyun Jung Cho; Misuk Ji; In Suk Kim; Kyung A Wee; Woochang Lee; Sang Hoon Song; Hye In Woo; Soo Youn Lee; Sail Chun

doi:10.3343/alm.2017.37.2.180

Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines

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

Authors

Sollip Kim¹, Yeo Min Yun², Hyo Jin Chae³, Hyun Jung Cho⁴, Misuk Ji⁵, In Suk Kim⁶, Kyung A Wee⁷, Woochang Lee⁸, Sang Hoon Song⁹, Hye In Woo¹⁰, Soo Youn Lee¹¹, Sail Chun¹²

Affiliations

¹ Department of Laboratory Medicine, Ilsan Paik Hospital, Inje University College of Medicine, Goyang, Korea.
² Department of Laboratory Medicine, Konkuk University Medical Center, Konkuk University School of Medicine, Seoul, Korea.
³ Department of Laboratory Medicine, College of Medicine, The Catholic University of Korea, Seoul, Korea.
⁴ Department of Laboratory Medicine, Konyang University Hospital, College of Medicine, Konyang University, Daejeon, Korea.
⁵ Department of Laboratory Medicine, Veterans Health Service Medical Center, Seoul, Korea.
⁶ Department of Laboratory Medicine, School of Medicine, Pusan National University, Busan, Korea.
⁷ Department of Laboratory Medicine, Yonsei University College of Medicine, Seoul, Korea.
⁸ Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea.
⁹ Department of Laboratory Medicine, Seoul National University Hospital and College of Medicine, Seoul, Korea.
¹⁰ Department of Laboratory Medicine, Samsung Changwon Hospital, Sungkyunkwan University School of Medicine, Changwon, Korea.
¹¹ Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul, Korea. suddenbz@skku.edu.
¹² Department of Laboratory Medicine, University of Ulsan College of Medicine and Asan Medical Center, Seoul, Korea. sailchun@amc.seoul.kr.

Abstract

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.

Keywords: Clinical laboratory; Korea; Pharmacogenetics; Practice guideline; Testing.

Publication types

Practice Guideline

MeSH terms

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

Substances

Anticoagulants
Antidepressive Agents
Antimetabolites, Antineoplastic
Antitubercular Agents
Platelet Aggregation Inhibitors
Warfarin
Clopidogrel
Cytochrome P-450 CYP2C9
Cytochrome P-450 CYP2C19
Cytochrome P-450 CYP2D6
VKORC1 protein, human
Vitamin K Epoxide Reductases
Methyltransferases
thiopurine methyltransferase
Arylamine N-Acetyltransferase
NAT2 protein, human
Ticlopidine
Isoniazid