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NPJ Genom Med. 2020 Feb 25;5:5. doi: 10.1038/s41525-019-0111-x. eCollection 2020.

Evaluating the promise of inclusion of African ancestry populations in genomics.

NPJ genomic medicine

Amy R Bentley, Shawneequa L Callier, Charles N Rotimi

Affiliations

  1. 1Center for Research on Genomics and Global Health, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD USA.
  2. 2Department of Clinical Research and Leadership, The George Washington University School of Medicine and Health Sciences, Washington, DC USA.

PMID: 32140257 PMCID: PMC7042246 DOI: 10.1038/s41525-019-0111-x

Abstract

The lack of representation of diverse ancestral backgrounds in genomic research is well-known, and the resultant scientific and ethical limitations are becoming increasingly appreciated. The paucity of data on individuals with African ancestry is especially noteworthy as Africa is the birthplace of modern humans and harbors the greatest genetic diversity. It is expected that greater representation of those with African ancestry in genomic research will bring novel insights into human biology, and lead to improvements in clinical care and improved understanding of health disparities. Now that major efforts have been undertaken to address this failing, is there evidence of these anticipated advances? Here, we evaluate the promise of including diverse individuals in genomic research in the context of recent literature on individuals of African ancestry. In addition, we discuss progress and achievements on related technological challenges and diversity among scientists conducting genomic research.

© This is a U.S. government work and not under copyright protection in the U.S.; foreign copyright protection may apply 2020.

Keywords: Genome-wide association studies; Personalized medicine

Conflict of interest statement

Competing interestsThe authors declare no competing interests.

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