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Utility and Diversity: Challenges for Genomic Medicine
Annual Review of Genomics and Human Genetics ( IF 7.7 ) Pub Date : 2021-08-31 , DOI: 10.1146/annurev-genom-120220-082640
Wylie Burke 1
Affiliation  

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.

中文翻译:


实用性和多样性:基因组医学的挑战

基因组信息有望在临床护理中发挥越来越大的作用,从高度外显的遗传条件扩展到外显性较低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。需要协作努力来确定评估基因组信息的不同用途所需的信息,然后获取该信息。如果该过程要提供公平的收益,还必须解决另一个挑战:缺乏基因组数据的多样性。当前的基因组知识主要来自欧洲血统的人群,这带来了当基因组学的健康益处出现时,大多数人口将被短缺的风险。

更新日期:2021-09-01
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