Incidental Variants Are Critical for Genomics

被引：34

作者：

Biesecker, Leslie G. ^{[1
]}

机构：

[1] NHGRI, NIH, Bethesda, MD 20892 USA

来源：

AMERICAN JOURNAL OF HUMAN GENETICS | 2013年 / 92卷 / 05期

基金：

美国国家卫生研究院;

关键词：

INFORMED-CONSENT; PERSPECTIVES; RETURN; DISCLOSURE; RESEARCHER;

D O I：

10.1016/j.ajhg.2013.04.001

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The topic of incidental variants detected through exome and genome sequencing is controversial, both in clinical practice and in research. The arguments for and against the deliberate analysis and return of incidental variants focus on issues of clinical validity, clinical utility, autonomy, clinical and research infrastructure and costs, and, in the research arena, therapeutic misconception. These topics are briefly reviewed and an argument is made that these variants are the future of genomic medicine. As a field, we should take full advantage of all opportunities to study these variants by searching them out, returning them to patients and research participants, and studying their utility for predictive medicine.

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收藏

页码：648 / 651

页数：4

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