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Including diverse and admixed populations in genetic epidemiology research

  • IGES ELSI Committee
  • Kiel University
  • National Institutes of Health
  • University of Southern California
  • Fred Hutchinson Cancer Research Center
  • University of North Texas
  • Case Western Reserve University
  • Dartmouth College
  • Mayo Clinic Jacksonville, FL
  • University of Melbourne
  • Lebanese University
  • University of Montreal

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)347-371
Number of pages25
JournalGenetic Epidemiology
Volume46
Issue number7
DOIs
Publication statusPublished - Oct 2022

Keywords

  • Admixture
  • Diversity
  • Genetic association
  • Genome-wide association study
  • Inclusion

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