Researchers have identified over 275 million new gene variants in the U.S. population through a project enhancing genetic diversity in medical data. The variants were found in the analysis of 245,000 complete genome sequences, with 77% from historically underrepresented groups.
All of Us: Importance of Identifying Genetic Diversity
The All of Us Research Program, led by the National Institutes of Health (NIH), recently unveiled groundbreaking findings after analyzing the genomes of nearly 250,000 Americans.
Launched in 2018, the project aims to overcome the historical underrepresentation of certain demographic groups, including minorities, older individuals, and those in poverty, in genetic research. This initiative seeks to create a more inclusive and diverse genetic database than past studies that primarily focused on individuals of European ancestry.
Dr. Alexander Bick, an assistant professor of medicine at Vanderbilt University Medical Center, emphasized All of Us' commitment to representing the full diversity of America. The project collaborates with over 50 health systems and community partners to recruit participants, who provide blood, urine, and saliva samples stored at the Mayo Clinic for future research.
The recent findings from All of Us, published in the journal Nature, highlight the project's potential as a valuable research tool and its tangible impact on health outcomes.
It is also accompanied by four papers in which one study, featured in Nature Medicine, utilized All of Us data to enhance estimates of individuals' risk for chronic diseases, including type 2 diabetes, obesity, and cancer, based on genetic analysis. The reliability of these risk predictions was validated in a separate group with diverse ancestries, showcasing the utility of the database.
Meanwhile, another study in Communications Biology revealed differences in mutation rates of genes linked to diseases like breast cancer and hypercholesterolemia between people of African and European ancestry, underscoring the importance of diverse datasets in understanding genetic disparities.
The All of Us project is at the forefront of global efforts to diversify genetic databases, challenging the historical Eurocentric focus. By expanding representation, the initiative aims to provide a more comprehensive understanding of genetic factors across diverse populations, fostering equitable and inclusive advancements in medical research.
Genetic Diversity: Impacts and Equity in Medicine
Across Earth's diverse species, individual characteristics arise from myriad gene differences. DNA, serving as the blueprint for traits, is organized into genes, comparable to words forming a narrative. The genetic diversity of a species results from collective DNA differences, generating distinct traits.
This genetic diversity is evident in familiar items like tomatoes, with variations such as beefeater and cherry tomatoes showcasing genetic diversity within a single species. In animals like dogs, genetic diversity yields a spectrum of sizes and appearances. This phenomenon extends beyond domesticated species, holding profound significance in fostering diversity among wild animals and plants.
Malia Fullerton, a University of Washington School of Medicine professor not involved in the research, stressed the significance of the heightened genetic diversity unveiled in the recent All of Us research program's findings as an essential step toward equity in precision medicine.
The subsequent challenge involves collaborating closely with underrepresented communities to ensure access to predictive tests and therapies facilitated by diverse datasets.
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