Including diverse and admixed populations in genetic epidemiology research

IF 1.7 4区医学 Q3 GENETICS & HEREDITY

Genetic Epidemiology Pub Date : 2022-07-16 DOI:10.1002/gepi.22492

Amke Caliebe, Fasil Tekola-Ayele, Burcu F. Darst, Xuexia Wang, Yeunjoo E. Song, Jiang Gui, Ronnie A. Sebro, David J. Balding, Mohamad Saad, Marie-Pierre Dubé, IGES ELSI Committee

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引用次数: 9

Abstract

The inclusion of ancestrally diverse participants in genetic studies can lead to new discoveries and is important to ensure equitable health care benefit from research advances. Here, members of the Ethical, Legal, Social, Implications (ELSI) committee of the International Genetic Epidemiology Society (IGES) offer perspectives on methods and analysis tools for the conduct of inclusive genetic epidemiology research, with a focus on admixed and ancestrally diverse populations in support of reproducible research practices. We emphasize the importance of distinguishing socially defined population categorizations from genetic ancestry in the design, analysis, reporting, and interpretation of genetic epidemiology research findings. Finally, we discuss the current state of genomic resources used in genetic association studies, functional interpretation, and clinical and public health translation of genomic findings with respect to diverse populations.

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在遗传流行病学研究中包括多样化和混合人群

将不同祖先的参与者纳入遗传研究可以带来新的发现，对于确保公平的卫生保健受益于研究进展非常重要。在这里，国际遗传流行病学学会(IGES)伦理、法律、社会、影响(ELSI)委员会的成员提供了关于进行包容性遗传流行病学研究的方法和分析工具的观点，重点是混合和祖先多样化的人群，以支持可重复的研究实践。我们强调在遗传流行病学研究结果的设计、分析、报告和解释中区分社会定义的种群分类与遗传祖先的重要性。最后，我们讨论了遗传关联研究中使用的基因组资源的现状，功能解释，以及针对不同人群的基因组研究结果的临床和公共卫生翻译。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Genetic Epidemiology 医学-公共卫生、环境卫生与职业卫生

CiteScore

4.40

自引率

9.50%

发文量

审稿时长

6-12 weeks

期刊介绍： Genetic Epidemiology is a peer-reviewed journal for discussion of research on the genetic causes of the distribution of human traits in families and populations. Emphasis is placed on the relative contribution of genetic and environmental factors to human disease as revealed by genetic, epidemiological, and biologic investigations. Genetic Epidemiology primarily publishes papers in statistical genetics, a research field that is primarily concerned with development of statistical, bioinformatical, and computational models for analyzing genetic data. Incorporation of underlying biology and population genetics into conceptual models is favored. The Journal seeks original articles comprising either applied research or innovative statistical, mathematical, computational, or genomic methodologies that advance studies in genetic epidemiology. Other types of reports are encouraged, such as letters to the editor, topic reviews, and perspectives from other fields of research that will likely enrich the field of genetic epidemiology.