药物基因组学的临床部署策略及流程Clinical Deployment Strategies and Processes for Pharmacogenomics
王飞;武志慧;闵浩巍;余乐;姜召芸;朱翀;弓孟春;史文钊;朱卫国;向炎珍;
WANG Fei;WU Zhi-hui;MIN Hao-wei;YU Le;JIANG Zhao-yun;ZHU Chong;GONG Meng-chun;SHI Wen-zhao;ZHU Wei-guo;XIANG Yan-zhen;Digital China Health Technologies Corporation Limited;Department of Information Center,Peking Union Medical College Hospital,Chinesse Academy of Medical Sciences &Peking Union Medical College;Department of Primary Care and Family Medicine,Peking Union Medical College Hospital,Chinesse Academy of Medical Sciences &Peking Union Medical College;Peking Union Medical College Hospital,
摘要(Abstract):
随着测序技术的飞速发展,临床上积累了大量个体化用药案例,相应的循证医学数据日益丰富,促进了药物基因组学的快速发展,然而只有在临床上进行规范合理的部署,才能发挥其价值。药物基因组学的临床部署目前主要有被动执行和预先执行两种策略,具体流程实施涉及电子病历整合、基因-药物对的选择、药物经济学评价、教育培训等多个方面。本文主要对药物基因组学的临床部署策略及实施流程进行综述,并对其面临的挑战进行讨论,以期为我国药物基因组学的临床部署提供指导。
With the rapid development of sequencing technology, a large number of clinical cases with personalized medicine have been accumulated. Abundant evidence-based medical data have promoted the rapid development of pharmacogenomics. However, it could play an important role only if it would be deployed in clinical practice. There are two strategies for the clinical deployment of pharmacogenomics: reactive strategy and preemptive strategy. Different deployment strategies require different deployment processes. The specific implementation process involves the integration of EMR, selection of gene-drug pairs, cost-effectiveness, education and training, etc. This paper reviewed the strategies and implementation workflow of pharmacogenomics clinical deployment, and discussed the challenges so as to provide guidance for the clinicaldeployment of pharmacogenomics in China.
关键词(KeyWords):
药物基因组学;临床部署;策略;实施流程
pharmacogenomics;clinical deployment;strategies;implementation workflow
基金项目(Foundation): 中国医学科学院医学与健康科技创新工程(2016-I2M-2-004);中国医学科学院罕见病研究中心资助项目(2016ZX310174-4)
作者(Authors):
王飞;武志慧;闵浩巍;余乐;姜召芸;朱翀;弓孟春;史文钊;朱卫国;向炎珍;
WANG Fei;WU Zhi-hui;MIN Hao-wei;YU Le;JIANG Zhao-yun;ZHU Chong;GONG Meng-chun;SHI Wen-zhao;ZHU Wei-guo;XIANG Yan-zhen;Digital China Health Technologies Corporation Limited;Department of Information Center,Peking Union Medical College Hospital,Chinesse Academy of Medical Sciences &Peking Union Medical College;Department of Primary Care and Family Medicine,Peking Union Medical College Hospital,Chinesse Academy of Medical Sciences &Peking Union Medical College;Peking Union Medical College Hospital,
参考文献(References):
- [1] 中华人民共和国国家卫生和计划生育委员会.药物代谢酶和药物作用靶点基因检测技术指南(试行)[S].国卫医医护便函[2015]第240号.
- [2] 中华人民共和国国家卫生和计划生育委员会.肿瘤个体化治疗检测技术指南(试行) [S].国卫医医护便函[2015]第240号.
- [3] Dunnenberger HM,Crews KR,Hoffman JM,et al.Preemptive clinical pharmacogenetics implementation:current programs in five US medical centers[J].Annu Rev Pharmacol Toxicol,2015,55:89- 106.
- [4] Carpenter JS,Rosenman MB,Knisely MR,et al.Pharmacogenomically actionable medications in a safety net health care system[J].SAGE Open Med,2016,4:2050312115624333.
- [5] Jaja C,Bowman L,Wells L,et al.Preemptive Genotyping of CYP2C8 and CYP2C9 Allelic Variants Involved in NSAIDs Metabolism for Sickle Cell Disease Pain Management[J].Clin Transl Sci,2015,8:272- 280.
- [6] Saldivar JS,Taylor D,Sugarman EA,et al.Initial assessment of the benefits of implementing pharmacogenetics into the medical management of patients in a long-term care facility[J].Pharmgenomics Pers Med,2016,9:1- 6.
- [7] Finkelstein J,Friedman C,Hripcsak G,et al.Potential utility of precision medicine for older adults with polypharmacy:a case series study[J].Pharmgenomics Pers Med,2016,9:31- 45.
- [8] Schildcrout JS,Denny JC,Bowton E,et al.Optimizing Drug Outcomes Through Pharmacogenetics:A Case for Preemptive Genotyping[J].Clin Pharmacol Ther,2012,92:235- 242.
- [9] Plumpton CO,Roberts D,Pirmohamed M,et al.A Systematic Review of Economic Evaluations of Pharmacogenetic Testing for Prevention of Adverse Drug Reactions[J].Pharmacoeconomics,2016,34:771- 793.
- [10] Van Driest SL,Shi Y,Bowton EA,et al.Clinically actionable genotypes among 10,000 patients with preemptive pharmacogenomic testing[J].Clin Pharmacol Ther,2014,95:423- 431.
- [11] 阳国平,郭成贤.药物基因组学与个体化治疗用药决策[M].北京:人民卫生出版社,2016.
- [12] Shuldiner AR,Relling MV,Peterson JF,et al.The Pharmacogenomics Research Network Translational Pharmacogenetics Program:overcoming challenges of real-world implementation[J].Clin Pharmacol Ther,2013,94:207- 210.
- [13] 孙可欣,詹思延,胡永华.医学大数据在药物基因组学领域中的应用与发展[J].药物流行病学杂志,2017,26:68- 73.
- [14] Rasmussentorvik LJ,Stallings SC,Gordon AS,et al.Design and Anticipated Outcomes of the eMERGE-PGx Project:A Multicenter Pilot for Preemptive Pharmacogenomics in Electronic Health Record Systems[J].Clin Pharmacol Ther,2014,96:482- 489.
- [15] Demmer LA,Waggoner DJ.Professional Medical Education and Genomics[J].Annu Rev Genomics Hum Genet,2014,15:507- 516.
- [16] Nickola TJ,Green JS,Harralson AF,et al.The current and future state of pharmacogenomics medical education in the USA[J].Pharmacogenomics,2012,13:1419- 1425.
- [17] 许景峰.药物基因组学应用于临床药学是个体化用药的必然趋势[J].药学服务与研究,2009,9:161- 165.
- [18] Verbelen M,Weale ME,Lewis CM.Cost-effectiveness of pharmacogenetic-guided treatment:are we there yet?[J].Pharmacogenomics J,2017,17:395- 402.
- [19] 谭重庆,彭六保,曾小慧,等.药物基因组学领域药物经济学评价的问题探讨[J].中国医院药学杂志,2016,36:1339- 1342.
- [20] Tavadia SM,Mydlarski PR,Reis MD,et al.Screening for azathioprine toxicity:A pharmacoeconomic analysis based on a target case[J].J Am Acad Dermatol,2000,42:628- 632.
- [21] Desta Z,Zhao X,Shin JG,et al.Clinical significance of the cytochrome P450 2C19 genetic polymorphism[J].Clin Pharmacokinet,2002,41:913- 958.
- [22] Chou WH,Yan FX,De LJ,et al.Extension of a pilot study:impact from the cytochrome P450 2D6 polymorphism on outcome and costs associated with severe mental illness[J].J Clin Psychopharmacol,2000,20:246- 251.
- [23] Priest VL,Begg EJ,Gardiner SJ,et al.Pharmacoeconomic Analyses of Azathioprine,Methotrexate and Prospective Pharmacogenetic Testing for the Management of Inflammatory Bowel Disease[J].Pharmacoeconomics,2006,24:767- 781.
- [24] Perlis RH,Ganz DA,Avorn J,et al.Pharmacogenetic testing in the clinical management of schizophrenia:a decision-analytic model[J].J Clin Psychopharmacol,2005,25:427- 434.
- [25] Meckley LM,Veenstra DL.Screening for the alpha-adducin Gly460Trp variant in hypertensive patients:a cost-effectiveness analysis[J].Pharmacogenet Genomics,2006,16:139- 147.
- [26] Winter J,Walker A,Shapiro D,et al.Cost-effectiveness of thiopurine methyltransferase genotype screening in patients about to commence azathioprine therapy for treatment of inflammatory bowel disease[J].Aliment Pharmacol Ther,2004,20:593- 599.
- [27] Me VDAM,Gurwitz D,Detmar SB,et al.Cost-effectiveness of pharmacogenomics in clinical practice:a case study of thiopurine methyltransferase genotyping in acute lymphoblastic leukemia in Europe[J].Pharmacogenomics,2006,7:783- 792.
- [28] Maitland-van der Zee AH,Klungel OH,Stricker BH,et al.Pharmacoeconomic evaluation of testing for angiotensin-converting enzyme genotype before starting beta-hydroxy-beta-methylglutaryl coenzyme A reductase inhibitor therapy in men[J].Pharmacogenetics,2004,14:53- 60.
- [29] Weiskopf NG,Weng C.Methods and dimensions of electronic health record data quality assessment:enabling reuse for clinical research[J].J Am Med Inform Assoc,2013,20:144- 151.
- [30] Zhang J,Johnson TR,Patel VL,et al.Using usability heuristics to evaluate patient safety of medical devices[J].J Biomed Inform,2003,36:23- 30.
- [31] 柴怡,赵俊,孙宁生,等.医学伦理审查规范流程的探讨[C].中华医学会第12次全国医学科学研究管理学学术年会,2010,153- 156.
- [32] 王维嘉.医学伦理委员会规范运行中应注意的几个问题[C].中华医学会医学伦理学分会学术年会,2007,284- 286.
- 王飞
- 武志慧
- 闵浩巍
- 余乐
- 姜召芸
- 朱翀
- 弓孟春
- 史文钊
- 朱卫国
- 向炎珍
WANG Fei- WU Zhi-hui
- MIN Hao-wei
- YU Le
- JIANG Zhao-yun
- ZHU Chong
- GONG Meng-chun
- SHI Wen-zhao
- ZHU Wei-guo
- XIANG Yan-zhen
- Digital China Health Technologies Corporation Limited
- Department of Information Center
- Peking Union Medical College Hospital
- Chinesse Academy of Medical Sciences &Peking Union Medical College
- Department of Primary Care and Family Medicine
- Peking Union Medical College Hospital
- Chinesse Academy of Medical Sciences &Peking Union Medical College
- Peking Union Medical College Hospital
- 王飞
- 武志慧
- 闵浩巍
- 余乐
- 姜召芸
- 朱翀
- 弓孟春
- 史文钊
- 朱卫国
- 向炎珍
WANG Fei- WU Zhi-hui
- MIN Hao-wei
- YU Le
- JIANG Zhao-yun
- ZHU Chong
- GONG Meng-chun
- SHI Wen-zhao
- ZHU Wei-guo
- XIANG Yan-zhen
- Digital China Health Technologies Corporation Limited
- Department of Information Center
- Peking Union Medical College Hospital
- Chinesse Academy of Medical Sciences &Peking Union Medical College
- Department of Primary Care and Family Medicine
- Peking Union Medical College Hospital
- Chinesse Academy of Medical Sciences &Peking Union Medical College
- Peking Union Medical College Hospital