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The Complex Relationship of Genetic Ancestry With Self-Reported Race/Ethnicity
Yambazi Banda1,2, Neil Risch2,3,4
1Spectrum Biobank, San Francisco, California, USA.
Genetic Epidemiology
|October 16, 2025
Summary
Self-reported race and ethnicity in biomedical research often diverge from genetic ancestry. Most admixed individuals identify with minority groups, except for Native Americans, complicating health disparity research.
Area of Science:
- Genetics
- Epidemiology
- Sociology
Background:
- Race and ethnicity are crucial demographic constructs in biomedical research for assessing health disparities.
- Their classification as social or biological constructs and relation to genetic ancestry is debated.
- Current methods predominantly rely on self-reported race and ethnicity in epidemiological studies.
Purpose of the Study:
- To investigate the complex relationship between self-reported race/ethnicity and genetic ancestry.
- To analyze self-reporting patterns in a large cohort to understand discrepancies with genetic data.
- To inform the interpretation of race/ethnicity categories in biomedical and epidemiological research.
Main Methods:
- Analysis of self-reported race/ethnicity and genetic ancestry data from 97,671 individuals in the Kaiser Permanente Northern California Genetic Epidemiology Research on Adult Health and Aging (GERA) cohort.
- Determination of genetic ancestry using 43,988 single nucleotide polymorphisms (SNPs) from genome-wide genotyping arrays.
- Statistical examination of correlations between self-identified racial/ethnic groups and estimated genetic ancestry proportions.
Main Results:
- Self-identification as African American, East Asian, and Latino(a) increased significantly with corresponding genetic ancestry.
- White identification only rose with substantial European/West Asian ancestry, indicating admixed individuals often adopt minority identities.
- Native American self-identification showed a surprising positive correlation with European ancestry, not Native American ancestry.
Conclusions:
- Genetic admixture influences race/ethnicity self-identification, with a tendency to adopt minority group labels.
- The disconnect between self-report and genetic ancestry, particularly for Native Americans, has significant implications for research.
- Findings highlight the need for careful consideration of how race and ethnicity are categorized and interpreted in health disparity research.
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