Genomic Equity Series: How factors shape polygenic risk in admixed groups

The Genomic Equity Series is a monthly online series hosted by the Diverse Data initiative at Genomics England, in collaboration with the Data Science for Health Equity community, which aims to share the latest experiences, projects and research of those working to improve equity in genomic medicine across the world.

About this month's event

For this month's instalment of the Genomic Equity series, we are delighted to host Dr. Genevieve Wojcik from Johns Hopkins Bloomberg School of Public Health share her extensive research and work in the area of polygenic risk in admixed groups. The field of human genetics and genomics has an assumptions problem. Specifically, we often assume that the default population is one of relatively homogeneous European ancestry and therefore build our frameworks and resources accordingly. These assumptions limit our efforts towards health equity, not only as manifested in the gross underrepresentation of non-European ancestry groups, but also how we model these groups and the complex relationship between genes and environment. We explore these dynamics in admixed groups through the lens of polygenic scores (PGS) within the Population Architecture using Genomics and Epidemiology (PAGE) Study. By examining the performance and behavior of polygenic scores both between and within diverse groups, we demonstrate how assumptions of homogeneity can conceal the complexity of how our genetics and environments influence our health. Our results highlight the need for PGS to be developed and fine-tuned in populations that are diverse both in terms of genetic ancestry and epidemiologically-relevant non-genetic variables to ensure equity in the translation of genomic findings for all.

Dr. Genevieve Wojcik is a genetic epidemiologist and Assistant Professor of Epidemiology at the Johns Hopkins Bloomberg School of Public Health. She holds a BA in Biology from Cornell University, an MHS in Human Genetics/Genetic Epidemiology and a PhD in Epidemiology from Johns Hopkins Bloomberg School of Public Health, and conducted her postdoctoral training at Stanford University. Her research program focuses on understanding the role of ancestry and environment in genetic risk and developing solutions to address health inequities for diverse and admixed populations. You can learn more about Dr. Wojcik and her group’s work here.