Precision Medicine in Internal Medicine

被引:9
作者
Kiryluk, Krzysztof [1 ,3 ]
Goldstein, David B. [1 ,4 ]
Rowe, John W. [2 ,5 ]
Gharavi, Ali G. [1 ,6 ]
Wapner, Ronald [1 ,7 ]
Chung, Wendy K. [1 ,8 ,9 ]
机构
[1] Columbia Univ, Coll Phys & Surg, New York, NY 10032 USA
[2] Columbia Univ, Mailman Sch Publ Hlth, New York, NY 10032 USA
[3] Columbia Univ, Coll Phys & Surg, Div Nephrol, Dept Med, 1150 St Nicholas Ave,Russ Berrie Pavil 412E, New York, NY 10032 USA
[4] Columbia Univ, Inst Genom Med, 630 West 168th St,Suite 11-101, New York, NY 10032 USA
[5] Columbia Univ, Robert N Butler Columbia Aging Ctr, Mailman Sch Publ Hlth, 722 West 168th St, New York, NY 10032 USA
[6] Columbia Univ, Coll Phys & Surg, Dept Med, Div Nephrol, 1150 St Nicholas Ave,Russ Berrie Pavilion 413, New York, NY 10032 USA
[7] Presbyterian Hosp, Dept Obstet & Gynecol, 16th Floor,Room 1666, New York, NY 10032 USA
[8] Columbia Univ, Coll Phys & Surg, Dept Pediat, 1150 St Nicholas Ave,620, New York, NY 10032 USA
[9] Columbia Univ, Coll Phys & Surg, Dept Med, 1150 St Nicholas Ave,620, New York, NY 10032 USA
基金
美国国家卫生研究院;
关键词
GUIDELINES; DISEASE;
D O I
10.7326/M18-0425
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
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.
引用
收藏
页码:635 / +
页数:9
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