Only for whites
Lack of diversity in genetic research leads to inequality
Lina Medvedeva, XX2 century
According to new research, the use of genetic data for medical purposes mainly of people of European origin, rather than diverse groups of the population, can exacerbate existing diseases and increase health inequalities.
The researchers' appeal was published in the journal Nature (Wojcik et al., Genetic analyses of diverse populations improves discovery for complex traits).
"Over the past few decades, many discoveries have been made in genetics that tell us a lot about biology, but most of the research is conducted in relation to people of European descent," says study author Christopher Gignoux, associate professor at the Colorado Center for Personalized Medicine at the University of Colorado Medical Campus. Colorado). – By limiting our attention, we limit our understanding of human genetics underlying complex traits. The study called PAGE (Population Architecture using Genomics and Epidemiology study, Population Architecture using Genomics and Epidemiology) gives us an opportunity to look at what we can find by studying more groups at the same time."
This was confirmed in a study that examined thousands of people of non-European origin living in the United States. The PAGE study was developed by the National Human Genome Research Institute (National Human Genome Research Institute) and the National Institute on Minority Health and Health Disparities (National Institute on Minority Health and Health Disparities) in order to expand the possibilities of genetic research in various population groups.
The researchers genotyped 49,839 people. A number of interesting genetic variants discovered by them have already been discovered in studies of genomes of strictly European origin. But within the framework of the PAGE, dozens of discoveries have also been made that would not have been possible if a single population had been studied. Among them are complexes of inherited traits, and monogenic disorders.
"In light of the fact that there is a difference in genetic architecture between populations, bias in their representation may exacerbate existing diseases and inequalities in medical care," the study says. "Critical variants may be missed if they are rare or completely absent in European populations." Especially rare diseases. In addition, risk forecasts calculated on the basis of a study of one population may not be well extrapolated to others.
Ginyu says that the success of individualized medicine and genomics depends on whether scientists will recruit people from "underrepresented" populations in genetic research to study. Currently, genome databases lack diversity, despite the fact that many of the unrepresented populations are at greater risk of disease.
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