Abstract
This review explores the limitations of self-reported race, ethnicity, and genetic ancestry in biomedical research. Various terminologies are used to classify human differences in genomic research including race, ethnicity, and ancestry. Although race and ethnicity are related, race refers to a person’s physical appearance, such as skin color and eye color. Ethnicity, on the other hand, refers to communality in cultural heritage, language, social practice, traditions, and geopolitical factors. Genetic ancestry inferred using ancestry informative markers (AIMs) is based on genetic/genomic data. Phenotype-based race/ethnicity information and data computed using AIMs often disagree. For example, self-reporting African Americans can have drastically different levels of African or European ancestry. Genetic analysis of individual ancestry shows that some self-identified African Americans have up to 99% of European ancestry, whereas some self-identified European Americans have substantial admixture from African ancestry. Similarly, African ancestry in the Latino population varies between 3% in Mexican Americans to 16% in Puerto Ricans. The implication of this is that, in African American or Latino populations, self-reported ancestry may not be as accurate as direct assessment of individual genomic information in predicting treatment outcomes. To better understand human genetic variation in the context of health disparities, we suggest using “ancestry” (or biogeographical ancestry) to describe actual genetic variation, “race” to describe health disparity in societies characterized by racial categories, and “ethnicity” to describe traditions, lifestyle, diet, and values. We also suggest using ancestry informative markers for precise characterization of individuals’ biological ancestry. Understanding the sources of human genetic variation and the causes of health disparities could lead to interventions that would improve the health of all individuals.
Highlights
This review explores the limitations of self-reported race, ethnicity, and genetic ancestry in biomedical research
African and European ancestry in self-identified African Americans can vary wildly with proportions of European ancestry spanning the full range of variation, which can have significant impact on how we identify disease loci using genetics approach [13]
Conclusion conceptual distinction between race/ethnicity and ancestry is widely recognized [104,105,106], it has not been translated into measurements of how well each accounts for health disparities
Summary
This review explores the limitations of self-reported race, ethnicity, and genetic ancestry in biomedical research. The use of a single Hispanic or Latino ethnic category is insufficient for characterizing genetic background associated with Hispanics or Latinos because Hispanics have variable proportions of European, Native American, and African ancestry [16], as well as disease prevalence including asthma [17]. Differences in ancestry proportion in admixed population could introduce variation among individuals of the same race and potentially alter genetic association and the therapeutic efficacy of commonly used asthma therapies, such as β2-adrenergic receptor agonists (β-agonists) [40,41].
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