“The Roles of Race and Representation in Learning Health Systems: Potential Future Approaches to Reduce Health Disparities” Shawneequa L.Callier, JD, MA Bioethics, Associate Professor Department of Clinical Research and Leadership School of Medicine and Health Sciences George Washington University Special Volunteer Center for Research on Genomics and Global Health National Human Genome Research Institute National Institutes of Health

Disclaimer The speaker declares no financial or other conflicts of interest Opinions expressed are my own and should not be construed as the views of my affiliate institutions 

“This human diversity needs to be embraced, celebrated, and studied “This human diversity needs to be embraced, celebrated, and studied. If we do not study diverse people, our understanding of human genetic variation will be limited and so will our ability to apply knowledge about genomics.”

Representation “Until they are able to conduct amply powered GWAS on each major ancestral population across the world, geneticists will continue to miss important information about disease biology.” Population Descriptors (e.g., race, ethnicity) “We found considerable heterogeneity in descriptions. For example, 26 terms, including ‘black cases’ and ‘sub-Saharan African’, were used to describe people of African ancestry. The most geographically specific and informative descriptions were those used for samples of European origin, as previous studies have shown.”

“As the United States becomes more diverse, its census bureau is trying to figure out how best to capture the changing face of the country. That could mean that the next time Americans fill out the census, they won't check a box for their race.” “This fall, the U.S. Census Bureau is testing different ways of asking Americans about their race, ethnicity and origin in advance of the next census in 2020.” CBC News · Posted: Nov 13, 2015

Census.gov

Trillin, C. (1986). American chronicles: Black or white Trillin, C. (1986). American chronicles: Black or white. New Yorker, 14, 62-78. Zhang, S. (2018). A Man Says His DNA Test Proves He’s Black, and He’s Suing. The Atlantic. https://www.theatlantic.com/science/archive/2018/09/dna-test-race-lawsuit/570250/

Genetic Screening to Prevent Abacavir Hypersensitivity Reaction 2010 Genetic Screening to Prevent Abacavir Hypersensitivity Reaction A recommendation to screen in European populations but not in some Asian or African populations would be problematic.  Labels such as “black” or “African” “obscure biomedically relevant variation and could lead to less vigilance among physicians for AHS in susceptible patients.” “For these reasons, the Food and Drug Administration's recommendation to screen all groups, regardless of population identity, for HLA-B*5701 before abacavir administration is prudent and justified.” Variation in the HLA-B*5701 Locus in 11 HapMap Samples

Conclusions and Relevance: These results show a significantly higher positive detection rate and a significantly lower rate of inconclusive results in white individuals in comparison with underrepresented minorities. This suggests greater clinical usefulness of genetic testing for cardiomyopathy in white persons in comparison with people of other racial/ethnic groups. This clear disparity warrants further study to understand the gaps in usefulness, which may derive from a lack of clinical testing and research in underrepresented minority populations, in the hopes of improving genetic testing outcomes for cardiomyopathy in nonwhite groups.

“We are now witnessing a rapid increase in the scope and depth of available data about the genomic and contextual variations in drug metabolism that influence drug responses within and across populations.” Justice and fairness require: Greater diversity and inclusion in research Affordable access to precision medicine interventions Appropriate resources and training for health care systems and providers