Key Points:
- The All of Us program’s genomic analyses reveal over 275 million new genetic markers.
- Approximately 150 markers associated with type 2 diabetes are identified, aiding in genetically informed diabetes care.
- Disparities in pathogenic variants between European and African ancestry genomes underscore the need for diverse genetic research.
- Polygenic risk scores are refined using the program’s inclusive dataset, recommending prioritized clinical use for 10 conditions.
The All of Us program, a massive initiative by the US National Institutes of Health focusing on genomes and health profiles of historically underrepresented groups, has started to deliver promising outcomes. Analyses of approximately 245,000 genomes collected by the program have unveiled over 275 million new genetic markers, with nearly 150 potentially linked to type 2 diabetes.
Published on February 19 in Nature, Communications Biology and Nature Medicine, these findings emphasize the significance of diversifying genetic research to address gaps in non-white populations.
The lack of diversity in genomic studies has been a longstanding issue, contributing to health disparities, especially for non-white individuals. The All of Us program, with over $3.1 billion in funding, aims to enroll one million participants by the end of 2026, providing comprehensive health profiles. The recently released data, including genomes, survey responses, electronic health records, and wearable device data, make it a powerful resource for genetics researchers.
One of the notable studies from the program focused on type 2 diabetes, a condition affecting approximately one in ten people in the US. The research, encompassing diverse genomes, identified 611 genetic markers related to the disease, with 145 previously unreported markers. These findings have implications for developing genetically informed diabetes care.
Another study delved into pathogenic variants and genetic differences increasing the risk of specific diseases. Disparities were observed, with 2.3% of genomes from individuals with European ancestry having pathogenic variants compared to 1.6% in those with African ancestry. This discrepancy likely stems from more research on people of European descent, highlighting the urgent need for in-depth studies on non-European genomes.
The data from the All of Us program also contribute to refining polygenic risk scores, offering insights into a person’s disease risk based on genetics. Researchers used the inclusive dataset to recalibrate scores for 23 conditions, recommending 10 for prioritized clinical use, including coronary heart disease and diabetes.
While the program continues to release data annually, the need for ongoing updates to algorithms trained predominantly on European genomes is emphasized. As diverse data become available, the hope is to bridge existing gaps and improve the accuracy of polygenic risk scores for personalized healthcare.
