Annals of Laboratory Medicine

Korean Society for Laboratory Medicine (대한진단검사의학회)
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Clinical Pharmacogenetic Testing and Application: 2024 Updated Guidelines by the Korean Society for Laboratory Medicine

  • John Hoon Rim (Department of Laboratory Medicine, Yonsei University College of Medicine) ;
  • Young-gon Kim (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sollip Kim (Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Rihwa Choi (Department of Laboratory Medicine, GC Labs) ;
  • Jee-Soo Lee (Department of Laboratory Medicine, Seoul National University Hospital) ;
  • Seungman Park (Department of Laboratory Medicine, National Cancer Center) ;
  • Woochang Lee (Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine) ;
  • Eun Young Song (Department of Laboratory Medicine, Seoul National University Hospital) ;
  • Soo-Youn Lee (Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine) ;
  • Sail Chun (Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine)
  • Received : 2024.10.22
  • Accepted : 2024.12.06
  • Published : 2025.03.01
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Abstract

In the era of precision medicine, pharmacogenetics has substantial potential for addressing inter-individual variability in drug responses. Although pharmacogenetics has been a research focus for many years, resulting in the establishment of several formal guidelines, its clinical implementation remains limited to several gene-drug combinations in most countries, including Korea. The main causes of delayed implementation are technical challenges in genotyping and knowledge gaps among healthcare providers; therefore, clinical laboratories play a critical role in the timely implementation of pharmacogenetics. This paper presents an update of the Clinical Pharmacogenetic Testing and Application guidelines issued by the Korean Society for Laboratory Medicine and aims to provide the necessary information for clinical laboratories planning to implement or expand their pharmacogenetic testing. Current knowledge regarding nomenclature, gene-drug relationships, genotyping technologies, testing strategies, methods for clinically relevant information delivery, QC, and reimbursements has been curated and described in this guideline.

Keywords

References

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