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  • Genomics must reflect racial and ethnic diversity


Geneticists must develop methods, resources and incentives for including a broader range of populations in medical genomics research to ensure that those most in need are not the last to benefit, say Carlos D. Bustamante, Esteban González Burchard and Francisco M. De La Vega.

Genome-wide association studies have dramatically improved our understanding of chronic diseases, yet 96 per cent of the people studied are of European descent. This trend is set to continue in future research, say the authors.

Early research suggests that results based on one population may not always apply to another — versions of a gene associated with a disease may occur with different frequency in different ethnic groups, for example, or may be missing entirely. So genome studies run the risk of excluding racial and ethnic minorities from the benefits that may result from such research, argue the authors.

But diversifying the study populations would reduce the likelihood of finding a statistical link between a genetic factor and a disease — making researchers reluctant to do it.

Empowering scientists in the developing world to conduct home-grown genomics research is one way of making sure that diverse populations are included, say the authors. Collaboration between countries will be key to funding and technology transfer, which will help boost genomics studies globally. This should involve providing local expertise, resources and insight into the population's history.

New statistical methods will also help to tease apart the contribution of genetic, socio-cultural and environmental factors to chronic and infectious diseases. Peer reviewers and granting bodies also need "to stress the importance of racial and ethnic diversity in medical genetic studies".

Link to full article in Nature

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