Lack Of Diversity In Genomic Databases Is A Barrier To Translating Precision Medicine Research Into Practice

Health Aff (Millwood). 2018 May;37(5):780-785. doi: 10.1377/hlthaff.2017.1595.


Precision medicine is predicted to revolutionize the clinical practice of medicine, in part by using molecular biomarkers to assess patients' risk, prognosis, and therapeutic response more precisely. However, reliance on biomarkers could present challenges for diverse populations that are not equitably represented in precision medicine research. We examined the populations included in genomic studies whose data were available in the following two public databases: the Genome-Wide Association Study Catalog and the database of Genotypes and Phenotypes. We found significantly fewer studies of African, Latin American, and Asian ancestral populations in comparison to European populations. These patterns were consistent across both data types and disease areas. While the number of genomic research studies that include non-European populations is modestly improving, the overall numbers are still low, and decisive action is needed now to implement the changes necessary for realizing the promise of precision medicine for all.

Keywords: Disparities; Diversity; GWAS; Genomics; Personalized Medicine; Precision Medicine; dbGaP.

Publication types

  • Research Support, N.I.H., Intramural
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Databases, Factual
  • Ethnicity / genetics
  • Female
  • Genetic Variation*
  • Genome-Wide Association Study*
  • Genomics*
  • Humans
  • Male
  • Needs Assessment
  • Neoplasms / drug therapy
  • Neoplasms / genetics*
  • Neoplasms / pathology
  • Precision Medicine
  • Translational Research, Biomedical*
  • United States