All of Us Researcher Workbench includes nearly 250,000 whole-genome sequences for broad research use. Credit: NIH
Key points:
- Using data from nearly 250,000 participants of the All of Us Research Program, researchers have identified more than 275 million previously unreported genetic variants—including 4 million that may be tied to disease risk.
- Companion studies using the dataset highlight the need for analyzing genomic data from diverse ancestries.
- The research team plans to engage at least 1 million participants in the program to help reflect the diversity of the U.S. and improve precision medicine.
By examining data from nearly 250,000 participants of the All of Us Research Program, researchers have identified more than 275 million previously unreported genetic variants. Their discoveries, outlined in Nature, provide new insight into genetic influences on health and disease.
In traditional genomic studies, more than 90% of the participants are of European genetic ancestry. However, in the All of Us program, half of the genomic data came from participants of non-European genetic ancestry, which allowed researchers to utilize the dataset to advance precision medicine for everyone.
Nearly 4 million of the newly identified variants were in areas that may be linked to disease risk. In a companion study, researchers analyzed the frequency of genes and variants across genetic ancestry groups in the All of Us dataset and found significant variability associated with disease risk between different ancestry groups.
Another separate study used the dataset to calibrate and implement polygenic risk scores for common diseases across diverse genetic ancestry groups. These researchers needed to incorporate the diversity of the All of Us data to accurately generate polygenic risk scores for the entire population.
“All of Us values intentional community engagement to ensure that populations historically underrepresented in biomedical research can also benefit from future scientific discoveries,” said Karriem Watson, chief engagement officer of the All of Us Research Program. “This starts with building awareness and improving access to medical research so that everyone has the opportunity to participate.”
To date, more than 750,000 people have enrolled in All of Us and have provided data from DNA, electronic health records, wearable devices, and surveys. The team hopes that at least one million people will participate to help reflect the diversity of the United States and improve precision medicine.