The role of cost-effectiveness analysis in the era of pharmacogenomics
The role of cost-effectiveness analysis in the era of pharmacogenomics
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DOI：
10.2165/00019053-200422080-00001
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发表时间：
2004-01-01
影响因子：
4.4
通讯作者：
Veenstra, D
中科院分区：
文献类型：
--
作者：
Flowers, CR;Veenstra, D
遗传信息和技术的广泛应用预示着一个时代的到来，从业者将利用基因组测试来个性化患者的护理。药物基因组学使用一系列方法来探索遗传变异与药物功效或毒性的关联。研究人员描述了一系列广泛的基因多态性，这些多态性赋予药物反应的个体间差异。药物基因组学提供了提高药物有效性、减少药物不良反应和提供具有成本效益的护理的潜力。然而，它对当前的临床实践影响不大，药物基因组学的经济影响仍不清楚。评估药物基因组学策略的增量成本效益涉及检查与感兴趣的基因型、基因组测试、疾病状态和治疗相关的因素。在以下情况下，药物基因组学策略可能具有成本效益：（i）所考虑的多态性在人群中普遍存在并且具有高度外显率； (ii) 基因检测具有高度敏感性和特异性，并且不易获得可用于个体化治疗的成本较低的替代检测； (iii) 如果不及时治疗，疾病状态会导致显着的发病率或死亡率； (iv) 治疗涉及可能受到基因型个体化治疗影响的重大结果和/或成本。我们预见药物基因组学应用与药物特别相关：治疗指数窄或个体间反应高度变异；目前监测其不良反应和治疗反应的方法存在局限性；以及几乎没有替代治疗选择的地方。由于化疗药物的特点和癌症临床结果的严重性，肿瘤学似乎是最适合应用药物基因组学的疾病领域之一。我们开发了一个框架，可以帮助研究人员、药剂师、医生和政策制定者评估特定策略的影响，并确定何时应进行正式的成本效益分析，以定量评估药物基因组学的益处。
The broad availability of genetic information and technologies heralds an era when practitioners will utilise genomic testing to individualise patients' care. Pharmacogenomics uses a spectrum of approaches to explore the association of genetic variation with drug efficacy or toxicity. Investigators have described a broad array of genetic polymorphisms that confer inter-individual differences in drug response. Pharmacogenomics offers the potential to improve drug effectiveness, reduce adverse drug reactions and provide cost-effective care. However, it has had little impact on current clinical practice and the economic implications of pharmacogenomics remain unclear.Assessing the incremental cost effectiveness of a pharmacogenomic strategy involves examination of factors associated with the genotype of interest, the genomic test, the disease state and the treatment. A pharmacogenomic strategy is likely to be cost effective when: (i) the polymorphism under consideration is prevalent in the population and has a high degree of penetrance; (ii) genetic testing is highly sensitive and specific, and less costly alternative tests that could be used to individualise therapy are not readily available; (iii) the disease state involves outcomes with significant morbidity or mortality if left untreated; and (iv) the treatment involves significant outcomes and/or costs that can be impacted by genotype-individualised therapy.We foresee pharmacogenomic applications being particularly relevant for drugs: with a narrow therapeutic index or a high degree of variability in inter-individual response; where there are limitations in current methods for monitoring their adverse effects and treatment responses; and where there are few alternative treatment options. Because of the characteristics of chemotherapeutic agents and the severity of clinical outcomes in cancer, oncology appears to be one of the most appropriate disease areas for the application of pharmacogenomics.We have developed a framework which can assist researchers, pharmacists, physicians, and policy makers in evaluating the implications of specific strategies, and identifying when formal cost-effectiveness analyses should be conducted to quantitatively evaluate the benefits of pharmacogenomics.