clinical practice: a case study of thiopurine methyltransferase genotyping in acute lymphoblastic leukemia in Europe
clinical practice: a case study of thiopurine methyltransferase genotyping in acute lymphoblastic leukemia in Europe
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临床实践：欧洲急性淋巴细胞白血病硫嘌呤甲基转移酶基因分型案例研究
DOI：
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发表时间：
2006
期刊：
影响因子：
--
通讯作者：
D. Ibarreta
中科院分区：
文献类型：
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作者：
M. E. V. D. Akker;D. Gurwitz;S. Detmar;C. Enzing;Michael M. Hopkins;D. Ibarreta
只有几项研究讨论了药物遗传学干预在医疗保健中的成本效益。缺乏药物遗传学方面的卫生经济学数据被认为是阻碍其实施以提高药物安全性的障碍之一。因此，最近一项题为“药物遗传学和药物基因组学：欧盟最新和潜在的社会经济影响”的前瞻性技术研究所(IPTS)的研究包括对药物遗传治疗策略与传统医疗实践进行探索性的成本效益审查。这项选定的病例研究检验了硫代嘌呤甲基转移酶(TMPT)基因分型对急性淋巴细胞白血病(ALL)儿童在硫嘌呤治疗前的成本效益。成本效益模型参数的信息是从文献调查和对四个欧洲国家(德国、爱尔兰、荷兰和英国)专家的访谈中收集的。该模型建立了在所有患者中进行TPMT测试具有良好的成本-效果比。这一结论是基于收集的TPMT基因分型成本、TMPT缺陷频率的估计、TPMT缺陷个体中硫嘌呤介导的骨髓抑制率以及所研究的四个国家中每一个与骨髓抑制相关的住院费用的参数。在四个研究国家的所有患者中，TPMT基因分型获得的平均每生命年成本为2100欧元(或在3%折扣后为4800欧元)，基于每个患者150欧元的基因分型成本。随着TMPT基因分型的广泛使用和低成本基因分型方法的出现，预期每获得寿命年的成本将进一步改善。我们的分析表明，TPMT基因分型应该被认真地视为医疗保健中不可或缺的一部分，然后再开始使用硫代嘌呤药物进行治疗。药物遗传学和药物基因组学(统称为PGx)的进展可以对制药和医疗保健部门产生积极影响，促进药物开发和以更安全、更有效的方式使用药物的医疗保健系统。然而，由于几个障碍，围绕PGx临床应用的许多期望仍然没有实现，包括：·与药物药代动力学和药效学相关的许多基因的基因型-表型相关性的证据基础发展缓慢
Only a few studies have addressed the cost-effectiveness of pharmacogenetics interventions in healthcare. Lack of health economics data on aspects of pharmacogenetics is perceived as one of the barriers hindering its implementation for improving drug safety. Thus, a recent Institute for Prospective Technological Studies (IPTS) study, entitled ‘Pharmacogenetics and pharmacogenomics: state-of-the-art and potential socio-economic impact in the EU’ included an explorative cost-effectiveness review for a pharmacogenetic treatment strategy compared with traditional medical practice. The selected case study examined the costeffectiveness of thiopurine methyltransferase (TMPT) genotyping prior to thiopurine treatment in children with acute lymphoblastic leukemia (ALL). Information for the costeffectiveness model parameters was collected from literature surveys and interviews with experts from four European countries (Germany, Ireland, the Netherlands and the UK). The model has established that TPMT testing in ALL patients has a favorable cost-effectiveness ratio. This conclusion was based on parameters collected for TPMT genotyping costs, estimates for frequency of TMPT deficiency, rates of thiopurine-mediated myelosuppression in TPMT-deficient individuals, and myelosuppression-related hospitalization costs in each of the four countries studied. The mean calculated cost per life-year gained by TPMT genotyping in ALL patients in the four study countries was €2100 (or €4800 after 3% discount) based on genotyping costs of €150 per patient. Cost per life-year gained is expected to further improve following the introduction of the wider use of TMPT genotyping and the availability of lower cost genotyping methods. Our analysis indicates that TPMT genotyping should be seriously considered as an integral part of healthcare prior to the initiation of therapy with thiopurine drugs. Advances in pharmacogenetics and pharmacogenomics (collectively termed PGx) could positively impact the pharmaceutical and healthcare sectors, facilitating drug development and a system of medical care where drugs could be used in a safer and more effective manner. However, many expectations surrounding the clinical application of PGx remain unfulfilled due to several barriers, including: • The slow development of the evidence base for genotype–phenotype correlations for many genes related to drug pharmacokinetics and pharmacodynamics
DOI：
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发表时间：
2002-12
期刊：
The Journal of rheumatology
影响因子：
--
作者：
C. Marra;J. Esdaile;A. Anis
通讯作者：
C. Marra;J. Esdaile;A. Anis
硫嘌呤 S-甲基转移酶缺乏症：两个核苷酸转换定义了与白种人催化活性丧失相关的最常见的突变等位基因。
影响因子：
9.8
作者：
Tai,HL;Krynetski,EY;Yates,CR;Loennechen,T;Fessing,MY;Krynetskaia,NF;Evans,WE
通讯作者：
Evans,WE
红细胞中的多态硫嘌呤甲基转移酶表明患有急性淋巴细胞白血病的儿童的白血病母细胞具有活性。
影响因子：
20.3
作者：
McLeod,HL;Relling,MV;Liu,Q;Pui,CH;Evans,WE
通讯作者：
Evans,WE