A study of hundreds of thousands of people in the US found that the racial and ethnic identity people report about themselves does not necessarily match their genetic background. (Image credit: Plume Creative via Getty Images)
A new study of the U.S. population has found that the racial and ethnic groups with which respondents identify may not fully reflect their genetic background.
The scientists who conducted the study stress the importance of recognising the discrepancy between people's self-identification and their genetic data, as it has implications for developing individualised treatments.
“This study is extremely important because it provides a high-level picture of the relationship between genetic diversity and racial/ethnic categories in the United States,” said study co-author Eduardo Tarazona-Santos, a professor of human population genetics at the Federal University of Minas Gerais in Brazil.
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The results are “critical to developing appropriate precision medicine solutions for everyone,” he told Live Science in an email. Precision medicine aims to tailor treatments to each patient based on their genetic makeup, environment, and lifestyle.
A cure for all
In their study, published Thursday (June 5) in The American Journal of Human Genetics, Tarazona-Santos and colleagues analyzed the DNA of more than 230,000 people who participated in the All of Us research database. The data set was collected as part of a National Institutes of Health program aimed at advancing precision medicine by engaging people from diverse and underrepresented populations.
Historically, many large genetic studies have primarily included people of European descent, making initiatives like the All of Us project critical to reducing medical inequities. However, in recent months, the program has faced significant funding cuts, significantly slowing recruitment and progress.
Using a technique known as principal component analysis, the team identified genetic similarities and differences among participants in the database. They also used genetic catalogs containing DNA samples from around the world, such as the 1000 Genomes Project, to assess how people’s genetic ancestry related to the racial (white, black or African American, Asian American) and ethnic (Hispanic/Latino or not) categories used in the All of Us survey.
The team found that people who identified themselves as belonging to a particular racial and ethnic group had diverse genetic characteristics. In fact, “much of the genetic variation occurs within racial and ethnic groups rather than between them,” the study authors said in their report.
Rather than dividing people into “distinct clusters” based on race and ethnicity, the analyses found that individuals of different races and ethnicities exhibited “gradients” of genetic variation. “We found gradients of genetic variation that cut across these categories,” the authors wrote.
The new study's findings cast doubt on a controversial paper published in Nature in 2024 that also analyzed genomic data provided by All of Us participants. The paper was criticized at the time
Sourse: www.livescience.com