Abstract

Since the completion of the Human Genome Project, increasing scrutiny has focused on patterns of genetic variation among global populations and their association with disease and human traits. This paper addresses emerging techniques to identify genetic differences, including admixture mapping and the use of ancestry informative markers (AIMS), towards controlling population substructure in genetic association studies. The paper discusses the need to reconcile statistical race used to determine genetic ancestry with phenotypic race in identifying and addressing ongoing health disparities among human populations. As DNA biobanking grows and standards for collecting phenotypic information are developed, clear understanding of the varied approaches to defining race and their implications will be imperative. Central to this explication will be an exploration of how genetic technologies inform current approaches to ancestry and their relevance for pharmacogenomic applications.

Keywords: DNA biobanks, genetic ancestry, health disparities, pharmacogenomics, race-based therapeutics