The US All of Us program, a massive initiative aimed at improving healthcare by focusing on the genomes and health profiles of historically underrepresented groups, has started to yield significant results. The program, run by the US National Institutes of Health in Bethesda, Maryland, has analyzed up to 245,000 genomes and discovered over 275 million new genetic markers, including nearly 150 markers that could contribute to type 2 diabetes. The findings were published in a series of papers in Nature, Communications Biology, and Nature Medicine.
Addressing the Lack of Diversity in Genomic Research
The lack of diversity in genomic research has long been acknowledged by researchers. A study conducted in 2019 found that 78% of people in large-scale genomic studies of disease were of European descent. This lack of diversity has exacerbated existing health disparities, particularly for non-white individuals. When researchers make decisions about new medicines or disease prediction models, they often rely on non-diverse data because that’s all that has been available.
The All of Us program aims to bridge this gap by recruiting one million people from ethnic and socio-economic groups that are typically underrepresented in biomedical studies. With over $3.1 billion in funding, the program plans to assemble detailed health profiles for one million people in the United States by the end of 2026. Since its launch in 2018, the program has enrolled 413,000 participants, 46% of whom belong to a minority racial or ethnic group.
A Valuable Resource for Genetics Researchers
The All of Us program’s dataset is a valuable resource for genetics researchers, particularly for African American, Hispanic, and Latin American genomes. It includes not only genomes but also survey responses, electronic health records, and data from wearable devices like Fitbits. This comprehensive dataset makes it one of the most powerful resources for genomic data.
The Power of Diverse Genomes
The power of using a database that includes diverse genomes is evident in a study on type 2 diabetes. The researchers analyzed genetic information from several databases, including All of Us, and found 611 genetic markers that might drive the development and progression of the disease, 145 of which were previously unreported. These findings could lead to genetically informed diabetes care.
Another study using All of Us data examined pathogenic variants, genetic differences that increase the risk of developing a particular disease. The researchers found that among genomes from people with European ancestry, 2.3% had a pathogenic variant, while among genomes from people with African ancestry, this fell to 1.6%. This disparity highlights the urgent need to study non-European genomes in more detail.
Improving Polygenic Risk Scores
Gathering and using more genomic and health data from diverse populations is crucial for improving polygenic risk scores. These scores provide an individual’s risk of developing a disease based on their genetics. However, previous research has shown that these scores tend to be less accurate for minority populations. Researchers using All of Us data have calibrated and validated scores for 23 conditions and recommended 10 for use in the clinic, including coronary heart disease and diabetes. However, further studies are needed to determine how physicians interpret these scores and whether they can improve long-term health outcomes.
Continued Efforts and Future Updates
The All of Us program plans to release new data every year, representing new enrollees and genomes. This ongoing effort to collect diverse data is crucial for advancing genomic research and improving healthcare outcomes for underrepresented groups. Existing algorithms trained mainly on the genomes of people of European ancestry need to be updated to ensure they are inclusive and accurate.
In conclusion, the US All of Us program is making significant strides in uncovering genetic markers and addressing the gaps in genetics research on underrepresented groups. With its comprehensive dataset and ongoing efforts, it is poised to become a go-to resource for genetics researchers and contribute to the development of personalized healthcare.
