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Western bias in human genetic studies is 'both scientifically detrimental and unfair'

Source: Cell Press


Despite efforts to include diversity in research, people of European ancestry continue to be vastly overrepresented and ethnically diverse populations largely excluded from human genomics research, according to the authors of a new commentary. This lack of diversity in studies has serious consequences for science and medicine.



  • For one thing, researchers say, the bias in the data limits scientists' understanding of the genetic and environmental factors influencing health and disease.

  • It also limits the ability to make accurate predictions of a person's disease risk based on genetics and to develop new and potentially more effective treatment approaches.

  • Human genetic variation is explained by differences in the evolutionary histories of human populations, including those resulting from the out-of-Africa migration of modern humans and all subsequent events.

  • Therefore, a complete understanding of human genetics and its relationship to disease requires studies in people representing the full "landscape of human variation."

The lack of diversity in human genomics studies is likely to exacerbate health inequalities
  • For example, 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 developed based on evidence from primarily European populations may not apply to people of other ethnic backgrounds.

New targeted treatments developed based on genetic evidence, primarily from people of European descent, and subsequent clinical trials, also conducted in people of European descent, may come with similar problems when prescribed to people in other groups

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