Race and ethnicity are socially constructed groupings that are sometimes paired with inferred genetic ancestry for analyses; however, their misuse can be problematic in understanding the role of human genetics in disease and cause harm to some populations. Despite recent efforts that provide guidelines on the broad use of population descriptors, there is ongoing confusion as to how the use of race, ethnicity, and ancestry labels impact genomics research. The mismatch between social constructs and genetic ancestry can create challenges, especially when working with different cohorts and legacy data. Our research demonstrates the importance of carefully considering the use of study, race, ethnicity, and ancestry labels and how these choices can impact genomic analyses.

Speaker: Betzaida Maldonado, PhD candidate in the Human Medical Genetics and Genomics Program at University of Colorado Anschutz Medical Campus

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