Operational implementation of prospective genotyping for personalized medicine: the design of the Vanderbilt PREDICT project.

Operational implementation of prospective genotyping for personalized medicine: the design of the Vanderbilt PREDICT project.
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DOI:
10.1038/clpt.2011.371
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发表时间:
2012-07
影响因子:
6.7
通讯作者:
--
中科院分区:
医学2区
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--
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通过日益强大且经济的方法来获取临床相关特征,促进了以了解每个人的基因组为指导的“个性化医疗”的前景。我们描述了与先进的临床决策支持系统相关的前瞻性基因分型的操作实施,以指导大型学术健康中心的个性化医疗保健。这种个性化医疗方法包括患者和医疗保健提供者的参与、识别用于实施的相关遗传变异、检测可靠性、护理点决策支持和必要的机构投资。一年内,大约 3,000 名患者(大多数计划接受心导管插入术)在多重平台上进行了基因分型,其中包括调节对广泛使用的抗血小板药物氯吡格雷反应的 CYP2C19 变体。这些数据被存入电子病历,并在为基因型变异的患者开具氯吡格雷处方时部署护理点决策支持。此类计划的建立是实施和评估个性化医疗策略的第一步。
The promise of “personalized medicine” guided by an understanding of each individual’s genome has been fostered by increasingly powerful and economical methods to acquire clinically relevant features. We describe operational implementation of prospective genotyping linked to an advanced clinical decision support system to guide individualized healthcare in a large academic health center. This approach to personalized medicine includes patient and healthcare provider engagement, identifying relevant genetic variation for implementation, assay reliability, point-of-care decision support, and necessary institutional investments. In one year, approximately 3,000 patients, most scheduled for cardiac catheterization, were genotyped on a multiplexed platform including CYP2C19 variants that modulate response to the widely-used antiplatelet drug clopidogrel. These data are deposited into the Electronic Medical Record and point-of-care decision support is deployed when clopidogrel is prescribed for those with variant genotypes. The establishment of programs such as this is a first step toward implementing and evaluating strategies for personalized medicine.
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