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内科学中的精准医学。

Precision Medicine in Internal Medicine.

机构信息

College of Physicians and Surgeons, Columbia University, New York, New York (K.K., D.B.G., A.G.G., R.W., W.K.C.).

Mailman School of Public Health, Columbia University, New York, New York (J.W.R.).

出版信息

Ann Intern Med. 2019 May 7;170(9):635-642. doi: 10.7326/M18-0425. Epub 2019 Apr 30.

Abstract

Medicine has long sought to match diagnostic and treatment approaches to the particular needs and risks of individual patients. The decreasing cost and increasing ease of genetic sequencing have propelled the rise of precision medicine. Precision medicine aims to use genetic and other information to provide care tailored to the individual patient, with the goal of improving clinical outcomes and minimizing unnecessary diagnostic and therapeutic interventions. Although developments in genetic sequencing have the potential to transform clinical care, there are important limitations, including uncertainty in the clinical interpretation of many genetic variants and concerns about privacy, discrimination, and cost. To help clinicians understand the basics of genetic sequencing and how to apply it in clinical practice, Annals of Internal Medicine is launching a new "Precision Medicine" series. This introduction provides a general overview of clinical sequencing, with a focus on germline variation. Subsequent articles will use a case-based format to provide concise summaries of specific clinical precision medicine scenarios that are relevant to the practice of internal medicine. These cases will highlight specific clinical indications; interpretation of genetic test results; and ethical, legal, cost, and privacy issues related to genetic testing. The goal is to provide practical information on the appropriate application and interpretation of genomics in routine clinical practice.

摘要

医学长期以来一直致力于根据个体患者的特殊需求和风险来匹配诊断和治疗方法。遗传测序成本的降低和难度的降低推动了精准医学的兴起。精准医学旨在利用遗传和其他信息为个体患者提供量身定制的护理,目标是改善临床结果并最大程度减少不必要的诊断和治疗干预。尽管遗传测序的发展有可能改变临床护理,但仍存在重要的局限性,包括许多遗传变异的临床解释的不确定性以及对隐私、歧视和成本的担忧。为了帮助临床医生了解基因测序的基础知识以及如何在临床实践中应用它,《内科学年鉴》正在推出一个新的“精准医学”系列。本介绍提供了临床测序的概述,重点是种系变异。随后的文章将采用基于案例的格式,提供与内科实践相关的特定临床精准医学情况的简明摘要。这些案例将突出显示特定的临床适应症;遗传测试结果的解释;以及与基因检测相关的伦理、法律、成本和隐私问题。目标是提供有关在常规临床实践中适当应用和解释基因组学的实用信息。

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本文引用的文献

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Nat Rev Nephrol. 2018 Feb;14(2):83-104. doi: 10.1038/nrneph.2017.167. Epub 2018 Jan 8.
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