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. 2022 Oct;46(7):347-371.
doi: 10.1002/gepi.22492. Epub 2022 Jul 16.

Including diverse and admixed populations in genetic epidemiology research

Amke Caliebe  1 , Fasil Tekola-Ayele  2 , Burcu F Darst  3   4 , Xuexia Wang  5 , Yeunjoo E Song  6 , Jiang Gui  7 , Ronnie A Sebro  8 , David J Balding  9 , Mohamad Saad  10   11 , Marie-Pierre Dubé  12   13 ; IGES ELSI Committee
Affiliations

Including diverse and admixed populations in genetic epidemiology research

Amke Caliebe et al. Genet Epidemiol. 2022 Oct.

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.

Keywords: admixture; diversity; genetic association; genome-wide association study; inclusion.

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Figures

Figure 1
Figure 1
Key elements to address diversity in genetic epidemiology research
See this image and copyright information in PMC

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