US Study Discovers 275 Million New Genetic Variants That Can Significantly Improve Drug Development

By Giuliano De Leon

Feb 20, 2024 07:48 AM EST

A new study that examined the genetic code of nearly 250,000 volunteers in the US found over 275 million entirely new variants. 

According to Reuters, researchers said Monday that the unexplored cache of variants may help explain why some groups are more prone to disease than others.

US Study Discovers Over 270 Million New Genetic Variants! Here's How They Can Help Create More Efficient Drugs
(Photo : Sangharsh Lohakare on Unsplash)
A U.S. study discovered over 270 million new genetic variants, which could help health professionals create more effective drugs.

US Study Discovers Over 270 Million New Genetic Variants

The "All of Us" study, funded by the US National Institutes of Health, analyzed around 250,000 complete genome sequences, Live Science reported.

Over 77% of participants belong to groups that have historically been underrepresented in biomedical studies. Among them were individuals in racial and ethnic groups, people living in poverty, and those above age 65.

The NIH-funded study aims to address the historical lack of diversity in existing genomic datasets based primarily on white people.

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Developing More Effective Drugs Based on Genes Analysis

Existing genomic datasets are heavily weighted toward people of European ancestry, which, according to NIH, has led to a narrow understanding of the biology of diseases and slowed the development of drugs and prevention strategies effective in diverse populations.

The researchers believe that studies like this could advance precision medicine for all. The "All of Us" study has reportedly turned up one billion genetic variants in total.

Even though numerous genetic variants have no impact on health, the researchers reported in a series of papers published in Nature and related journals that almost four million of the newly discovered differences in the genetic code are located in areas that may be related to disease risk, which "is huge," according to Dr. Josh Denny, the study's author, and its chief executive.

The researchers said they aim to eventually collect DNA and other health data on one million people to understand better how genetic variants influence health and disease. They believe that the new trove of genetic variants could be used to refine tools to calculate a person's risk for disease.

"Sequencing diverse populations can lead to new drug targets that are relevant to everyone... It can also help uncover disparities that lead to specific treatments for people that are experiencing higher burdens of disease or different disease," Denny noted.

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