Increasing diversity of functional genetics studies to advance biological discovery and human health

Am J Hum Genet. 2023 Dec 7;110(12):1996-2002. doi: 10.1016/j.ajhg.2023.10.012. Epub 2023 Nov 22.


In this perspective we discuss the current lack of genetic and environmental diversity in functional genomics datasets. There is a well-described Eurocentric bias in genetic and functional genomic research that has a clear impact on the benefit this research can bring to underrepresented populations. Current research focused on genetic variant-to-function experiments aims to identify molecular QTLs, but the lack of data from genetically diverse individuals has limited analyses to mostly populations of European ancestry. Although some efforts have been established to increase diversity in functional genomic studies, much remains to be done to consistently generate data for underrepresented populations from now on. We discuss the major barriers for this continuity and suggest actionable insights, aiming to empower research and researchers from underserved populations.

Publication types

  • Review

MeSH terms

  • Genomics*
  • Humans
  • Population Groups*