Department of Bioethics and Humanities, University of Washington, Seattle, Washington 98195, USA; email:
Annu Rev Genomics Hum Genet. 2021 Aug 31;22:1-24. doi: 10.1146/annurev-genom-120220-082640. Epub 2021 Apr 1.
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.
基因组信息有望在临床护理中发挥越来越重要的作用，不仅涵盖高外显率的遗传疾病，还包括低外显率的基因型和常见疾病。但随着这种转变，临床实用性的问题成为一个主要的挑战。需要开展协作，以确定评估基因组信息不同用途所需的信息，然后获取这些信息。如果要使这一过程提供公平的利益，还必须解决另一个挑战：即基因组数据的多样性缺乏。当前的基因组知识主要来自欧洲血统的人群，这带来了一个风险，即在基因组学带来健康益处时，大多数人群可能会受益不足。这两个挑战定义了我作为遗传学家的职业生涯，也让我认识到，解决方案必须从跨学科和社会鸿沟的对话开始。
