United States: In a shocking revelation, greater than 275 million newly developed genetic variations have been discovered in people. Among those variations, few are at higher risk of developing cancer and diabetes.
There is research conducted on a large corpus of data set of 245,000 Americans of their genomes, which was compiled and findings were obtained by the researchers of the National Institute of Health (NIH) in Bethesda, Maryland.
Among the participants Americans, half of them belonged to minority backgrounds.
What did the research reveal?
Most of the variants had no impact on health; however, the scientists acknowledged that nearly 4 million were found in genes associated with a higher risk for cancer, diabetes, heart disease, and other conditions.
This is the first batch of data from the $3.1 billion ‘All of Us’ project, whose objective is to create one of the biggest genetic databases around the world, by accumulating genetic and health information on one million Americans, the Dailymail News reported.
The ‘gold standard’ at present is the UK Biobank which contains such data on 500,000 adults- most of whom are from the white population.
Comment on the research by the experts
Dr Josh Denny, the lead author of the study said, ‘Sequencing diverse populations can lead to new drug targets that are relevant to everyone.”
Moreover, “It can also help uncover disparities that lead to specific treatments for people that are experiencing higher burdens of disease or different disease,” as DailyMail reported.
How is the latest research different from the previous ones?
Previously, nearly 90 percent of the volunteers in genetic studies did come from white backgrounds — as per estimates.
However, this project will tilt the balance as it will have a greater number of participants from minority backgrounds, which would be about half of the total participants.
Moreover, more than 80 percent are going to be people who earn low income, have disabilities, or belong to a historically disadvantaged group – namely, American Indians, Asian Americans, and sexual minorities.
Discovering new genotypes however among a minority population will lead to the revelation of genetic variants that make some people more susceptible to particular diseases or lead to the identification of drugs to treat certain conditions like high cholesterol, DailyMail reported.
The research was published in Nature, Communications Biology and Nature Medicine.
About the All Of Us program
It was launched in 2018, for which more than 767,000 adults have signed up. However, it further aims to include and touch 1 million by 2026.
Dr Alicia Martin, a population geneticist at Massachusetts General Hospital in Boston said that the project was a “huge resource, particularly for African American, Hispanic, and Latin American genomes,” and, “That’s massively missing from the vast majority of large-scale biobank resources and genomics consortia.”
More findings from the study
Researchers discovered in total more than a billion genetic variants during the research, of which 275 million were not identified before!
The scientists say that the majority of the new variants they found were rare and they will consider them harmless, and so will disregard them when screening for genes linked to specific diseases.
However, the studies published today and based on the data from the All of Us project also identify some new genes that could increase the risk of diseases.
According to DailyMail reports, in one of the papers concerning the research of type 2 diabetes. whereby almost 40 percent of the participants belonged to minority ethnic groups, scientists discovered 611 genetic markers that could signal a risk of suffering from the condition – 145 of which had not been reported before.
However, the experts also said that the new variants can be used for ‘informing the diabetes care’, especially helpful for those adults from minority groups.
In other studies, researchers pay attention to pathogenic genetic variants — which increase our chances of some diseases such as cancer.
More work is needed to understand genetic variation risks for diseases – Experts
A lot of additional research is still required to comprehend how the new genetic variants interact with the different health conditions,
The researchers believe that they can be used to make the existing disease risk calculation tools more accurate.