Including diverse and admixed populations in genetic epidemiology research

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

doi:10.1002/gepi.22492

Including diverse and admixed populations in genetic epidemiology research

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

Authors

Amke Caliebe¹, Fasil Tekola-Ayele², Burcu F Darst^{3

4}, Xuexia Wang⁵, Yeunjoo E Song⁶, Jiang Gui⁷, Ronnie A Sebro⁸, David J Balding⁹, Mohamad Saad^{10

11}, Marie-Pierre Dubé^{12

13}; IGES ELSI Committee

Affiliations

¹ Institute of Medical Informatics and Statistics, Kiel University and University Hospital Schleswig-Holstein, Kiel, Germany.
² Epidemiology Branch, Division of Population Health Research, Division of Intramural Research, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, Maryland, USA.
³ Center for Genetic Epidemiology, University of Southern California, Los Angeles, California, USA.
⁴ Public Health Sciences Division, Fred Hutchinson Cancer Research Center, Seattle, Washington, USA.
⁵ Department of Mathematics, University of North Texas, Denton, Texas, USA.
⁶ Department of Population and Quantitative Health Sciences, Case Western Reserve University, Cleveland, Ohio, USA.
⁷ Department of Biomedical Data Science, Geisel School of Medicine, Dartmouth College, One Medical Center Dr., Lebanon, New Hampshire, USA.
⁸ Department of Radiology, Mayo Clinic, Jacksonville, Florida, USA.
⁹ Melbourne Integrative Genomics, Schools of BioSciences and of Mathematics & Statistics, University of Melbourne, Melbourne, Australia.
¹⁰ Qatar Computing Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
¹¹ Neuroscience Research Center, Faculty of Medical Sciences, Lebanese University, Beirut, Lebanon.
¹² Department of Medicine, and Social and Preventive Medicine, Université de Montréal, Montréal, Québec, Canada.
¹³ Beaulieu-Saucier Pharmacogenomcis Centre, Montreal Heart Institute, Montreal, Canada.

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.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't

MeSH terms

Epidemiologic Studies
Genetic Association Studies
Genetics, Population*
Genomics*
Humans
Molecular Epidemiology

Abstract

Publication types

MeSH terms

Grants and funding