Western biases in human genetic studies are "both scientifically damaging and unjust" – ScienceDaily

On the one hand, they say, bias in the data limits scientists' understanding of genetic and environmental factors affecting health and disease. It also limits the ability to make accurate predictions of the risk of a person's disease based on genetics and to develop new potentially more effective treatment approaches.

"Leaving whole populations apart from human genetic studies is both detrimental and scientifically unfair," says co-author Sarah Tishkoff (@SarahTishkoff), a human evolution geneticist at the University of Pennsylvania. "We may lack genetic variants that play an important role in health and disease in ethnically diverse populations, which could have detrimental consequences in terms of prevention and treatment of the disease."

Tishkoff and his colleagues, including Giorgio Sirugo of the University of Pennsylvania, and Scott M. Williams, of the Case Western Reserve University School of Medicine, report that in 2018, the individuals included in Genome-wide badociation studies (GWAS) were at 78% European, 10% from Asia, 2% from Africans, 1% from Hispanics and <1% from all other ethnic groups . GWAS studies are exploring the genome for small variations that occur more frequently in people with a particular disease or trait than in people without the disease or trait.

Human genetic variation is explained by the differences in the evolutionary histories of human populations, including those resulting from the extra-African migration of modern humans and all subsequent events. Therefore, a full understanding of human genetics and its relationship to the disease requires studies of people representing the entire "landscape of human variation".

"The lack of diversity in human genomics studies is likely to exacerbate health inequalities," Williams said. "For example, approaches are being developed to predict the risk of contracting diseases such as Alzheimer's disease, heart disease or diabetes based on their status for multiple genes." such calculations developed on the basis of evidence mainly from European populations might not apply to people of other ethnic origins. "New targeted therapies developed on the basis of genetic evidence, mainly in European pedigree, and subsequent clinical trials, also conducted among people of European descent, may pose similar problems when they are prescribed to people from other groups.

"The lack of ethnic diversity in human genomics studies means that our ability to translate genetic research into clinical practice or public health policy may be dangerously incomplete or, worse, erroneous," they write.

In light of this, the researchers call for a concerted effort to increase the diversity of human genomics studies, requiring funding that targets the inclusion of ethnically diverse populations and the development of an infrastructure to conduct research on human genomics. clinical and genomic research on neglected populations. Other challenges will include other communities' mistrust of biomedical research derived from past exploitation experiences.

"As far as possible, well-defined biobanks with diverse ethnic backgrounds and health records can be used to badyze the genetic risk of disease, resulting in better health care for all populations. "said Sirugo. "These initiatives will require the political will to improve funding and infrastructure for the study of genomic and phenotypic diversity in global populations." The future success of genomic medicine and medicine is accuracy depends on it. "

The authors are supported by the National Institutes of Health and the American Diabetes Association.

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