title: Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine.
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.
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, New York, USA. slavep@unimelb.edu.au.|Department of Medicine, The University of Melbourne, Austin Health and Royal Melbourne Hospital, Melbourne, Victoria, Australia. slavep@unimelb.edu.au.
authors.forename: Slavé
authors.initials: S
authors.lastname: Petrovski
authors.affiliation: Institute for Genomic Medicine, Columbia University, New York, New York, USA. dg2875@cumc.columbia.edu.
authors.forename: David B
authors.initials: DB
authors.lastname: Goldstein
mesh_terms: D030342:Genetic Diseases, Inborn / Q000175:diagnosis / Q000235:genetics*; D014644:Genetic Variation; D023281:Genomics; D006801:Humans; D057285:Precision Medicine; D044465:White People / Q000235:genetics*
keywords: Clinical diagnostics; Disease-associated genes; Genetic ancestry; Genetic variation; Geographic ancestry; Healthcare inequality; Next generation sequencing; Precision medicine; Rare variants; Sequence interpretation