Sarah Collier
Last active: 4/7/2017

Assessing the accuracy of observer-reported ancestry in a biorepository linked to electronic medical records.

Dumitrescu L, Ritchie MD, Brown-Gentry K, Pulley JM, Basford M, Denny JC, Oksenberg JR, Roden DM, Haines JL, Crawford DC
Genet Med. 2010 12 (10): 648-50

PMID: 20733501 · PMCID: PMC2952033 · DOI:10.1097/GIM.0b013e3181efe2df

PURPOSE - The Vanderbilt DNA Databank (BioVU) is a biorepository that currently contains >80,000 DNA samples linked to electronic medical records. Although BioVU is a valuable source of samples and phenotypes for genetic association studies, it is unclear whether the administratively assigned race/ethnicity in BioVU can accurately describe and be used as a proxy for genetic ancestry.

METHODS - We genotyped 360 single nucleotide polymorphisms on the Illumina DNA Test Panel containing ancestry informative markers in 1910 BioVU samples with observer-reported ancestry and 384 samples from the Multiple Sclerosis Genetics Group with self-reported ancestry. Genetic ancestry was inferred for all individuals using Structure 2.2.

RESULTS - More than 98% of observer-reported European Americans were genetically inferred to have at least 60% European ancestry. Ninety-three percent of observer-reported African Americans were genetically inferred to be predominantly of African ancestry. We determined that the concordance of observer-reported race/ethnicity and inferred genetic ancestry was not significantly different from that of self-reported race/ethnicity in either population (P = 0.09 and 0.94 in European Americans and African Americans, respectively).

CONCLUSIONS - Observer-reported race/ethnicity for European Americans and African Americans approximates genetic ancestry as well as self-reported race/ethnicity, making biorepositories linked to electronic medical records such as BioVU a viable source of DNA samples for future large-scale genetic association studies.

MeSH Terms (16)

African Continental Ancestry Group Biological Specimen Banks Continental Population Groups Databases, Genetic Databases, Nucleic Acid Electronic Health Records Ethnic Groups European Continental Ancestry Group Genetic Association Studies Genetic Markers Genotype Humans Medical Records Systems, Computerized Observer Variation Phenotype Self Report

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