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基因组学中的不确定性影响精准医学。

Uncertainty in Genomics Impacts Precision Medicine.

机构信息

Perelman School of Medicine at the University of Pennsylvania, 3400 Civic Center Boulevard, Philadelphia, PA 19104, USA.

出版信息

Trends Genet. 2021 Aug;37(8):711-716. doi: 10.1016/j.tig.2020.10.010. Epub 2020 Nov 18.

Abstract

As exacting as genetic and genomic testing have become, health professionals continue to encounter uncertainty in their applications to medical practice. As examining the human genome at more refined levels increases, so is the likelihood of encountering uncertainty about the meaning of the information. The history of this concept informs how we might confront and deal with uncertainty, and what the future might hold. Precision medicine holds great promise for establishing more accurate diagnoses, directing specific therapy to patients who will most benefit from it, and avoiding treatments in patients who are most likely to suffer adverse consequences, or at best not benefit. But its application depends importantly on the proper interpretation of a person's genotype.

摘要

尽管基因和基因组检测已经变得非常精确,但健康专业人员在将其应用于医疗实践时仍然会遇到不确定性。随着对人类基因组进行更精细水平的检测,信息含义的不确定性也会增加。这一概念的历史告诉我们如何面对和处理不确定性,以及未来可能会怎样。精准医学为建立更准确的诊断、为最有可能从中受益的患者提供特定的治疗方法、并避免对最有可能遭受不良后果或根本无益的患者进行治疗提供了巨大的希望。但是,它的应用在很大程度上取决于对一个人的基因型的正确解释。

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