Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities

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.

Minority Representation in Migraine Treatment Trials

“…Migraine is a genetically and phenotypically heterogeneous disorder. While self-reported race or ethnicity does not always reflect an individual's ancestry and genetic composition, 68 there remains a strong correlation 69 such that stratifying clinical studies by race may yield useful information on migraine pharmacogenomics. [63][64][65] Analyzing efficacy by race may help uncover migraine subtypes or etiologic genes that respond selectively to a particular treatment.…”

Racial-ethnic differences in chronic kidney disease-mineral bone disorder in youth on dialysis

“…Race and ethnicity, as commonly defined, fail to account for nuances such as mixed racial lineage and differences in racial lineage within ethnic categories. For instance, our use of “Hispanic” as an ethnic category fails to reflect African ancestral descent in Puerto Rican American patients as opposed to Native American descent in Mexican American patients [36]. Furthermore, current racial-ethnic categories have evolved alongside societal pressures and are confounded by associations with socioeconomic status and other systemic barriers that might impact CKD-MBD adherence and treatment [36, 37].…”

“…For instance, our use of “Hispanic” as an ethnic category fails to reflect African ancestral descent in Puerto Rican American patients as opposed to Native American descent in Mexican American patients [36]. Furthermore, current racial-ethnic categories have evolved alongside societal pressures and are confounded by associations with socioeconomic status and other systemic barriers that might impact CKD-MBD adherence and treatment [36, 37]. Thus, a true understanding of how CKD-MBD markers differ between racial-ethnic categories requires the consideration of true ancestral lineage in future studies.…”

Health Disparities: A Life Course Health Development Perspective and Future Research Directions

“…Measures of SES are often chosen based on data availability instead of conceptual concerns. Standard approaches to categorizing race/ethnicity may need reconsideration with growing diversity and racial mixing, and many have noted the limitation that selfreported race/ethnicity should not be used as a proxy for genetic ancestry in biological studies (Eisenhower et al 2014;Mersha and Abebe 2015). …”