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The researchers discovered more than 275 million previously unreported genetic variants, which were identified using data from nearly 250,000 participants at the National Institutes of Health. we all Research program. Half of the genomic data is from participants of non-European genetic ancestry. The unexplored repertoire of variants provides researchers with new avenues to better understand genetic influences on health and disease, particularly in communities that have been left out of research in the past. The results are detailed. The natureI along with three other articles The nature Newspapers

About 4 million of the newly identified species are in areas that may be associated with disease risk. Genomic data detailed in the study are available to researchers registered in Researcher Workbench, the program’s platform for data analysis.

“As a physician, I have seen how the lack of diversity in genomic research has contributed to deepening health disparities and limiting patient care,” said Josh Denney, MD, MS, Chief said the executive officer. we all Research program and an author of the study. “Give we all The dataset has already led researchers to findings that expand what we know about health — many that would not have been possible without the contribution of our participants’ DNA and other health information. . Their participation is paving the way for a future where scientific discovery is more inclusive, with broader benefits for all.”

To date, more than 90% of participants in large genomics studies are of European genetic ancestry. NIH institute and center directors noted in a joint commentary article. Nature Medicine that this has led to a narrow understanding of disease biology, and has hindered the development of new treatment and prevention strategies for all populations. He emphasizes that many researchers are now using it. we all Data sets to advance health medicine for all.

For example, in a companion study published in Communication biologyA research team led by Baylor College of Medicine, Houston, examined the frequencies of genes and variants recommended by the American College of Medical Genetics and Genomics. we all Dataset These genes and variants reflect program genetic disease risk research findings presented to participants. The authors found significant variation in the frequency of variants associated with disease risk between groups of different genetic ancestry and compared to other large genomic datasets.

Although more research is needed before these findings can be used to develop genetic testing recommendations for specific populations, the researchers believe that these differences in the number of variants are due to the limited diversity and participant enrollment of past studies. may be influenced by their disease-focused approach. Compared to differences in the spread of variables.

In a separate study, eMERGE program investigators tapped we all Data set to calibrate and apply 10 polygenic risk scores for common diseases in diverse genetic ancestry groups. These scores calculate an individual’s risk of disease by taking into account genetic and family history factors. Without accounting for diversity, polygenic risk scores can lead to false results that misrepresent a person’s risk of disease and create unequal genetic tools. Without the diversity of we all Statistically, these polygenic risk scores would have been applicable only to some populations.

“we all Intentionally values ​​community involvement to ensure that populations historically underrepresented in biomedical research can benefit from future scientific discoveries,” said Karim Watson, DHSc., MS. , MPH, Chief Engagement Officer said. we all Research program. “That starts with raising awareness and improving access to medical research so that everyone has the opportunity to participate.”

More than 750,000 people have registered. we all By the end of today, the program plans to include at least one million people who reflect the diversity of the United States and over time through DNA, electronic health records, wearable devices, surveys and more. Provide data.

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