效用和多样性:基因组医学的挑战。

IF 7.7 2区 生物学 Q1 GENETICS & HEREDITY Annual review of genomics and human genetics Pub Date : 2021-08-31 Epub Date: 2021-04-01 DOI:10.1146/annurev-genom-120220-082640
Wylie Burke
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引用次数: 9

摘要

基因组信息准备在临床护理中发挥越来越大的作用,从高渗透的遗传条件扩展到低渗透的基因型和常见疾病。但随着这种转变,临床效用问题成为一个重大挑战。为了确定评估基因组信息的不同用途所需的信息,然后获取这些信息,必须进行协作。如果这一过程要提供公平的利益,还必须解决另一个挑战:缺乏基因组数据的多样性。目前的基因组知识主要来自欧洲人后裔,这就造成了这样的风险:当基因组学的健康益处出现时,大多数人口将被剥夺。这两个挑战定义了我作为遗传学家的职业生涯,并让我明白,解决方案必须从跨学科和社会分歧的对话开始。
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Utility and Diversity: Challenges for Genomic Medicine.

Genomic information is poised to play an increasing role in clinical care, extending beyond highly penetrant genetic conditions to less penetrant genotypes and common disorders. But with this shift, the question of clinical utility becomes a major challenge. A collaborative effort is necessary to determine the information needed to evaluate different uses of genomic information and then acquire that information. Another challenge must also be addressed if that process is to provide equitable benefits: the lack of diversity of genomic data. Current genomic knowledge comes primarily from populations of European descent, which poses the risk that most of the human population will be shortchanged when health benefits of genomics emerge. These two challenges have defined my career as a geneticist and have taught me that solutions must start with dialogue across disciplinary and social divides.

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来源期刊
CiteScore
14.90
自引率
1.10%
发文量
29
期刊介绍: Since its inception in 2000, the Annual Review of Genomics and Human Genetics has been dedicated to showcasing significant developments in genomics as they pertain to human genetics and the human genome. The journal emphasizes genomic technology, genome structure and function, genetic modification, human variation and population genetics, human evolution, and various aspects of human genetic diseases, including individualized medicine.
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