Racial Disparities in Genomic Data Quality in Cancer: Impact and Potential Mitigation

Presented By: Daniel P. Wickland, PhD
Speaker Biography: Dr. Wickland is an Assistant Professor of Biomedical Informatics at Mayo Clinic College of Medicine and Science. He received his PhD from the University of Illinois at Urbana-Champaign and joined Mayo Clinic in 2019. Dr. Wickland develops and applies computational approaches in genomics and transcriptomics to identify disease risk factors and therapeutic targets. His research focuses include cancer neoantigen discovery and prioritization from tumor sequencing data; data disparities in racial minority patients; and syndromic heterogeneity in young-onset Alzheimer’s disease.
Webinar: Racial Disparities in Genomic Data Quality in Cancer: Impact and Potential Mitigation
Webinar Abstract: In the United States, cancer disproportionately impacts Black and African American individuals. Identifying genetic factors underlying cancer disparities has been an important research focus and requires data that are equitable in both quantity and quality across racial groups. It is widely recognized that DNA databases quantitatively underrepresent minorities. However, the differences in data quality between racial groups have not been well studied. We compared the qualities of germline and tumor exomes between ancestrally African and European patients in The Cancer Genome Atlas of 7 cancers with at least 50 self-reported Black patients in the context of sequencing depth, tumor purity, and qualities of germline variants and somatic mutations. Germline and tumor exomes from ancestrally African patients were sequenced at statistically significantly lower depth in 6 out of the 7 cancers. For 3 cancers, most ancestrally European exomes were sequenced in early sample batches at higher depth, whereas ancestrally African exomes were concentrated in later batches and sequenced at much lower depth. ...
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