임상약물유전학 검사와 적용: 진단검사의학 임상검사 지침 - 2부
Clinical Pharmacogenetic Testing and Application: Laboratory Medicine Clinical Practice Guidelines Part 2
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초록
약물유전학은 빠르게 발전하는 분야이며 임상진료에 활용할 수 있는 검사항목도 꾸준히 증가하고 있으나, 개개의 약물유전검사를 활용함에 있어 적절한 처방과 결과 해석 여부에 따라 임상적 유용성이 달라질 수 있으므로, 현재까지 밝혀진 약물유전학적 지식을 근거로 실제 임상진료에 활용할 수 있는 권고안의 제시가 요구되어 왔다. 본 지침은 건강보험 요양급여로 인정받는 진료 목적의 임상 약물유전검사에 대하여 전문가들이 문헌을 검토하고 의견을 모아 작성하였다. 또한 임상진료에서 활용 가능한 검사들을 소개하고, 검사의 적용 기준과 결과 해석 및 보고 방법, 임상검사실에서의 검사법의 도입과 수행에 관련된 기술적, 윤리적, 제도적 이슈들을 살펴봄으로써 약물유전검사의 임상적 유용성 향상에 기여하고자 한다. 특히, 본 권고안에서는 CYP2C9 및 VKORC1과 warfarin, CYP2C19과 clopidogrel, CYP2D6와 삼환계 항우울제, codeine, tamoxifen, atomoxetine, NAT2와 isoniazid, UGT1A1과 irinotecan, TPMT와 thiopurine 계열 약물, EGFR과 tyrosine kinase 억제제, ERBB2 (HER2)와 erb-b2 receptor tyrosine kinase 2 (HER2) 표적치료제, KRAS와 anti-epidermal growth factor receptor (EGFR) 제제에 대해서 중점적으로 다루었다.
Abstract
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.
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