Genomics research consortia
I have contributed to discussions and recommendations on the scientifically appropriate and ethically responsible conceptualization and use of race and ancestry in genetic research in several large-scale, NIH-funded consortia.
TOPMed (2018-2021)
In my research scientist and project manager role at the UW Genetic Analysis Center (GAC), I co-founded a monthly discussion group on race, ancestry, and genetics. The group started in spring 2018 as a space for staff to read and discuss media articles and peer-reviewed literature from a variety of disciplines. An outgrowth of this group was a series of recommendations on the use and reporting of race, ancestry, and genetics in the NHLBI Trans-Omics for Precision Medicine (TOPMed) project, published in Cell Genomics in August 2022. These recommendations are cited in the March 2023 NASEM report, Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field.
As part of the TOPMed Ethical, Legal, and Social Implications (ELSI) Committee, I co-authored a commentary on moving away from discrete population groupings, which often lead to the conflation of social and genetically-defined categories, when presenting genetic variant frequency information. Social and scientific motivations to move beyond groups in allele frequencies: The TOPMed experience was published in the American Journal of Human Genetics in September 2022.
PRIMED (2021- )
In the NIH-funded Polygenic Risk Methods in Diverse Populations (PRIMED) Consortium, I participate in working groups aimed at considering selection, use, and discussion of population descriptors in polygenic risk score development and evaluation, along with the social and ethical implications of these analytic decisions.
MPH Practicum
During my Master of Public Health (MPH, Public Health Genetics, 2012-2014), I worked on a survey project assessing genetics professionals’ views on the relationships between race, ancestry, and genetics. My specific role was conducting a qualitative analysis of free text comment boxes placed throughout the survey, where respondents elaborated on their responses to the fixed-answer survey items.
This project was so interesting to me in part because of my “day job” as a Research Scientist in the UW Genetic Analysis Center. Common practices of genetic data analysis involve estimating and visualizing genetic ancestry. These visualizations are often interpreted through the lens of self-identified race and ethnicity, despite the recognition that race and ethnicity are socio-cultural constructs. Nevertheless, there is some overlap, some partial correlation, between genetic ancestry and concepts such as race. These relationships are muddled and often under-examined, especially by people working with genetic data. Thus my interest in bringing these tensions to light, and prompting more interdisciplinary conversation about how to most effectively and ethically carry out genetic research and its eventual translation into clinical practice.
The work is published in the AJOB (American Journal of Bioethics) Empirical Bioethics. A companion project of a similar survey fielded to anthropologists has been published here and here.