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遗传信息在个性化医疗中的作用。

The role of genetic information in personalized medicine.

作者信息

Gamma Alex

出版信息

Perspect Biol Med. 2013 Autumn;56(4):485-512. doi: 10.1353/pbm.2013.0040.

Abstract

Personalized medicine is the latest promise of a gene-centered biomedicine to provide treatments custom-tailored to the specific needs of patients. Although surrounded by much hype, personalized medicine at present lacks the empirical and theoretical foundations necessary to render it a realistic long-term perspective. In particular, the role of genetic data and the relationship between causal understanding, prediction, prevention, and treatment of a disease need clarifying. This article critically examines the concept of information in genetics and its relation to modern-day genetic determinism, using pharmacogenetics, personalized medicine's core discipline, as a test case. The article concludes that: (1) genetic knowledge does not constitute a privileged basis for personalized medicine because there is an a priori complete causal parity of genetic and nongenetic resources of development; and (2) prediction, prevention, and treatment all depend on a causal-mechanistic understanding that will follow only from integrating data across the whole gamut of developmental factors-genetic and non-genetic. In a future successful personalized medicine, genes will have no special status, either as determinants of phenotype, markers of disease or as targets of treatment.

摘要

个性化医疗是基因中心生物医学的最新愿景,旨在提供根据患者特定需求定制的治疗方法。尽管备受炒作,但目前个性化医疗缺乏使其成为现实的长期前景所需的实证和理论基础。特别是,基因数据的作用以及疾病的因果理解、预测、预防和治疗之间的关系需要厘清。本文以个性化医疗的核心学科药物基因组学为例,批判性地审视了遗传学中的信息概念及其与现代基因决定论的关系。文章得出结论:(1)基因知识并非个性化医疗的特权基础,因为发育的基因和非基因资源在因果关系上具有先验的完全对等性;(2)预测、预防和治疗都依赖于因果机制理解,而这只有通过整合包括基因和非基因在内的所有发育因素的数据才能实现。在未来成功的个性化医疗中,基因无论是作为表型的决定因素、疾病的标志物还是治疗靶点,都不会具有特殊地位。

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