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Facilitating clinical implementation of pharmacogenomics.

机译:促进药物基因组学的临床实施。

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摘要

For genetic variants associated with severe drug toxici-ties, there is a strong impetus for adoption. An example is the HLA-B15:02 variant, associated with the potentially lethal Stevens-Johnson syndrome in Asian patients treated with carbamazepine.1 Another example is the poor metabolizers of cytochrome p450 2D6 substrates that represent a range of risk when exposed to specific medications. The death of a child treated with fluoxetine illustrates the importance of identifying patients with impaired metabolism as well as the ethical dilemma of knowingly exposing patients with minimal metabolic capacity to substrates that require a specific enzyme for clearance.
机译:对于与严重药物毒性有关的遗传变异,有很强的推动力。一个例子是HLA-B15:02变体,与在接受卡马西平治疗的亚洲患者中潜在的致命史蒂文斯-约翰逊综合症相关。1另一个例子是细胞色素p450 2D6底物的代谢不良,暴露于特定药物下会带来一定风险。用氟西汀治疗的儿童的死亡说明了识别代谢受损患者的重要性,以及有意识地将代谢能力最低的患者暴露于需要特定酶清除的底物的伦理困境。

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