United States: The DNA of the United States contains approximately 275 million genetic variations, increasing the vulnerability of Americans to various health issues, according to a recent study published in Nature and related journals.
A team of researchers analyzed genetic data from around a quarter of a million volunteers in the US to compile this information, aiming to address the lack of diversity in existing genomic databases. The study, funded by the US National Institutes of Health’s “All of Us” project, identified a total of 1 billion genetic variants.
Dr. Josh Denny, the lead author of the study, highlighted the importance of sequencing diverse populations to identify new drug targets and address disparities in healthcare. While many of the discovered genetic variations may not impact health, approximately 4 million were found to be potentially linked to disease risk.
The focus on individuals of European descent in genomic studies has hindered our understanding of disease biology, according to NIH leaders. This underscores the need for more inclusive research to develop effective healthcare strategies for all populations.
Recent studies have shown how genetic diversity influences disease risk, such as the discovery of the APOL1 gene’s role in chronic kidney disease among populations of African ancestry. Additionally, research on PCSK9 inhibitors in people of African descent has led to advancements in lowering LDL cholesterol levels.
Further investigation is needed to fully understand the implications of these genetic variations on various health conditions. However, researchers are optimistic about leveraging these findings to improve tools for assessing individual susceptibility to diseases.