Study identifies over 275 million new genetic variants

February 20, 2024  16:18

Analyzing the genetic code of a quarter of a million volunteers in the U.S. has revealed more than 275 million brand new variants. The findings, published by Reuters, may help explain why certain groups of people are more susceptible to certain diseases.

The study, known as "All of Us," funded by the U.S. National Institutes of Health, is a unique effort to collect whole-genome data from a wide range of Americans. It aims to fill gaps in existing genomic data, especially for underrepresented groups.

As noted by Dr. Josh Denny, the study's executive director, sequencing the genomes of diverse populations can spur the development of more effective treatments and prevention methods, providing more equitable access to care.

Interestingly, nearly 4 million of the newly discovered genetic variants are located in areas associated with risk for various diseases. This confirms the importance of better understanding genetic traits for predicting disease and developing personalized treatment approaches.

Today's genetic research tends to focus on people of European descent, creating significant disparities in understanding disease biology. Consequently, leaders at the U.S. National Institutes of Health are calling attention to the need for more research on diverse genetic groups.

While the new findings hold promise for a more personalized approach to health care, scientists still have a lot of work to do to fully understand the impact of new genetic variants on disease. However, we are already seeing examples of how genetic diversity can directly influence the risk of developing certain diseases, such as chronic kidney disease or high cholesterol.

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