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遗传/基因组医学的最新进展。

Recent developments in genetic/genomic medicine.

机构信息

Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, United Kingdom

Clinical Ethics and Law, Faculty of Medicine, University of Southampton, Southampton, United Kingdom.

出版信息

Clin Sci (Lond). 2019 Mar 5;133(5):697-708. doi: 10.1042/CS20180436. Print 2019 Mar 15.

Abstract

Advances in genetic technology are having a major impact in the clinic, and mean that many perceptions of the role and scope of genetic testing are having to change. Genomic testing brings with it a greater opportunity for diagnosis, or predictions of future diagnoses, but also an increased chance of uncertain or unexpected findings, many of which may have impacts for multiple members of a person's family. In the past, genetic testing was rarely able to provide rapid results, but the increasing speed and availability of genomic testing is changing this, meaning that genomic information is increasingly influencing decisions around patient care in the acute inpatient setting. The landscape of treatment options for genetic conditions is shifting, which has evolving implications for clinical discussions around previously untreatable disorders. Furthermore, the point of access to testing is changing with increasing provision direct to the consumer outside the formal healthcare setting. This review outlines the ways in which genetic medicine is developing in light of technological advances.

摘要

遗传技术的进步正在临床领域产生重大影响,这意味着人们对遗传检测的作用和范围的许多看法不得不改变。基因组检测带来了更大的诊断机会,或者对未来诊断的预测,但也增加了不确定或意外发现的可能性,其中许多发现可能对一个人家庭的多个成员产生影响。过去,遗传检测很少能够提供快速的结果,但基因组检测速度的提高和可用性正在改变这种情况,这意味着基因组信息越来越多地影响着急性住院患者护理决策。遗传疾病治疗选择的格局正在发生变化,这对以前无法治疗的疾病的临床讨论产生了不断发展的影响。此外,随着越来越多的检测直接在正式医疗保健环境之外提供给消费者,检测的切入点也在发生变化。这篇综述概述了遗传医学在技术进步的背景下是如何发展的。

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