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

Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine | Genome Biology | Full Text
 

Conclusions

These analyses illustrate how unequal representation of genetic variation can negatively affect present genomic interpretation in individuals of non-European ancestry. While the results are unsurprising given our understanding of population genetics, there are still important lessons. Firstly, these data show that it is instructive to assess the allele frequencies of non-European cases in their matched ancestry group(s). Secondly, increasing diversity of geographic ancestry and sample size among sequenced reference cohorts greatly ameliorates the problem (Fig. 1).

Given that sample sizes are about to explode with the US national initiative and other large-scale international sequencing studies, it is vital that we ensure the most equitable distribution of the generation of genomic data possible. Enriching our knowledge of genetic variation in different ancestry groups remains the most effective solution to this problem. With initiatives like the recently announced Precision Medicine Initiative (PMI) Cohort Program, this must be recognized as a high priority for the field as we move towards an era where precision medicine is a reality. If not, genomics could further contribute to healthcare inequalities.