Genetic studies need more diverse participants

an abstract illustration of diverse faces in profile

The field of human genetics must improve the diversity of research participants to avoid worsening existing health inequities among different racial and ethnic groups, particularly where heart disease is concerned, according to a December 2021 article in Nature.

Blood cholesterol levels (also called lipid levels) are highly genetic, highly treatable, and serve as a primary risk factor for heart disease, the leading cause of death worldwide. However, most previous genome-wide association studies—a study design used to detect associations between genetic variants and common diseases or traits in a population—have been conducted in European ancestry populations. Therefore, they may have missed genetic variants contributing to blood cholesterol level variation in other ancestry groups. 

The article, a large collaboration with hundreds of coauthors from more than 200 studies in 44 countries, found that most genetic variations that influence lipid levels are observed across all populations, but at least some variants are uniquely observed in one population, particularly among individuals with African ancestry or Hispanics.

“A sensible and equitable approach is to ensure diverse ancestries are represented in genetic studies whenever possible. Diversity helps to determine the degree to which findings can be generalized to other health traits and diseases,” says Dr. Yan Sun, associate professor of epidemiology, who is co–senior author on the paper.