Understanding diversity in genetic data

In genetic research, ensuring that data reflects the true diversity of human populations is crucial. Calls for more diverse data arise from the need to improve scientific discovery and address disparities in health outcomes. However, the term “diversity” often lacks clarity, leading to an over-reliance on problematic continental ancestry categories.

In our article, Defining and pursuing diversity in human genetic studies, published in Nature Genetics, my co-authors and I propose a more nuanced approach. Diversity should be seen as a way to achieve specific research goals—whether for scientific discovery, improving health outcomes, or addressing other specific challenges.

Achieving diversity requires careful consideration throughout the research process, from recruitment to data analysis and sharing. It’s not just about representation—sometimes oversampling certain populations may be necessary to achieve the goals of a particular project.

By focusing on the outcomes of research and ensuring thoughtful practices, we can help ensure that the benefits of genetic research reach as many populations as possible.