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预防医学与现代基因研究相结合的重要性。

The importance of preventative medicine in conjunction with modern day genetic studies.

作者信息

Sandler Sierra, Alfino Lauren, Saleem Mir

机构信息

NOVA Southeastern University, United States.

出版信息

Genes Dis. 2018 Apr 12;5(2):107-111. doi: 10.1016/j.gendis.2018.04.002. eCollection 2018 Jun.

DOI:10.1016/j.gendis.2018.04.002
PMID:30258938
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC6146230/
Abstract

Genetic screening in the primary care setting is the future of preventative medicine. Genetic testing is an important medical tool for assessing various inheritable diseases, conditions, and cancers. The ability to diagnose patients before symptoms surface can help lessen the severity of symptoms and promote quality of life. However, genetic screening can cause psychological distress from the knowledge of test results, in some cases only serving to increase the risk of developing a condition due to stress. Genetic testing can be conducted anytime in life, even before birth. In this review, a compilation of genetic testing's definitions and boundaries, factors influencing an individual's test outcomes, and an overview of a wide variety of diseases, conditions and cancers were collected.

摘要

基层医疗环境中的基因筛查是预防医学的未来。基因检测是评估各种遗传性疾病、病症和癌症的重要医学工具。在症状出现之前诊断患者的能力有助于减轻症状的严重程度并提高生活质量。然而,基因筛查可能会因知晓检测结果而导致心理困扰,在某些情况下,这只会增加因压力而患病的风险。基因检测可以在生命中的任何时候进行,甚至在出生前。在这篇综述中,收集了基因检测的定义和界限、影响个体检测结果的因素,以及对各种疾病、病症和癌症的概述。

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本文引用的文献

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DNA sequencing of maternal plasma reliably identifies trisomy 18 and trisomy 13 as well as Down syndrome: an international collaborative study.母体血浆 DNA 测序可靠地鉴定出 18 三体、13 三体和唐氏综合征:一项国际合作研究。
Genet Med. 2012 Mar;14(3):296-305. doi: 10.1038/gim.2011.73. Epub 2012 Feb 2.
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Willingness to pay for genetic testing for Alzheimer's disease: a measure of personal utility.为阿尔茨海默病基因检测支付费用的意愿:一种个人效用的衡量方式。
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Carrier screening in individuals of Ashkenazi Jewish descent.对阿什肯纳兹犹太裔个体进行携带者筛查。
Genet Med. 2008 Jan;10(1):54-6. doi: 10.1097/GIM.0b013e31815f247c.
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Predictive testing for Huntington's disease.亨廷顿舞蹈症的预测性检测。
Brain Res Bull. 2007 Apr 30;72(2-3):165-71. doi: 10.1016/j.brainresbull.2006.10.023. Epub 2006 Nov 9.
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The quest for the perfect baby: why do Israeli women seek prenatal genetic testing?对完美宝宝的追求:以色列女性为何寻求产前基因检测?
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