Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine

Genome Biol. 2016 Jul 14;17(1):157. doi: 10.1186/s13059-016-1016-y.

Abstract

An important application of modern genomics is diagnosing genetic disorders. We use the largest publicly available exome sequence database to show that this key clinical service can currently be performed much more effectively in individuals of European genetic ancestry.

Keywords: Clinical diagnostics; Disease-associated genes; Genetic ancestry; Genetic variation; Geographic ancestry; Healthcare inequality; Next generation sequencing; Precision medicine; Rare variants; Sequence interpretation.

Publication types

  • Letter

MeSH terms

  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Variation*
  • Genomics
  • Humans
  • Precision Medicine*
  • White People / genetics*