Lack of Diversity in Genetic Research: Serious Consequences for Science and Medicine

Lack of diversity in genetic research data and the resulting bias limits scientists’ understanding of the genetic and environmental factors influencing health and disease, according to a commentary published in the prestigious research journal Cell.

Co-written by Scott Williams, PhD, a professor in the Departments of Population and Quantitative Health Sciences and Genetics and Genome Sciences at Case Western Reserve University School of Medicine, the article argues that this lack of diversity limits the ability to make accurate predictions of a person’s disease risk based on genetics and to develop new and potentially more effective treatments.

Together with colleagues from the University of Pennsylvania, Williams argues in The Missing Diversity in Human Genetic Studies, that despite efforts to include more diverse populations in research, people of northern European ancestry continue to be vastly overrepresented in human genetics studies, and most other populations are largely missing. This lack of diversity has serious consequences for science and medicine.

“Approaches are being developed to predict a person’s risk of diseases such as Alzheimer’s disease, heart disease, or diabetes based on their status for multiple genes. But such calculations have been developed based on evidence from primarily northern European populations and may not apply to people of other ethnic backgrounds,” says Williams.

The researchers call for a concerted effort to increase diversity in human genomic studies, requiring funding that targets inclusion of ethnically diverse populations and development of infrastructure for doing clinical and genomics research in neglected populations.

Read the full commentary here.