And emerging data indicate that inequalities in health care are being exacerbated by findings from whole-exome and -genome sequencing, despite their greater sample diversity compared with GWAS. Patients of African and Asian ancestry are currently more likely than those of European ancestry to receive ambiguous genetic test results after exome sequencing, or be told that they have variants of unknown significance9. Furthermore, patients of African ancestry are more likely than those of European ancestry to be wrongly told that a mutation they carry increases their risk of developing a life-threatening heart condition known as hypertrophic cardiomyopathy10. Had more ethnically diverse controls been included in the candidate-gene studies that identified these associations, population-specific differences in the frequency of presumed disease-causing variants would have revealed a false positive at the outset.
