The All of Us program, a massive US initiative focusing on the genomes and health profiles of historically underrepresented groups, is making significant strides in improving healthcare by mapping the genetic basis of human diseases across diverse individuals.
Comprehensively mapping the genetic basis of human disease has been a long-standing goal for the field of human genetics. The All of Us Research Program, a longitudinal cohort study, has embarked on this mission by enrolling a diverse group of at least one million individuals across the USA to accelerate biomedical research and improve human health. This ambitious project has now released 245,388 clinical-grade genome sequences, providing a unique resource in terms of diversity, with 77% of participants coming from historically underrepresented communities, and 46% representing underrepresented racial and ethnic minorities.
This groundbreaking effort has identified over 1 billion genetic variants, with more than 275 million of these variants not previously reported. Of these, more than 3.9 million had coding consequences. By leveraging the linkage between genomic data and longitudinal electronic health records, the program has evaluated 3,724 genetic variants associated with 117 diseases and found high replication rates across participants of European and African ancestry.
The summary-level data from this program are publicly available, while individual-level data can be accessed by researchers through the All of Us Researcher Workbench utilizing a unique data passport model. Researchers have reported a median time from initial registration to data access of 29 hours.
The release of this diverse dataset is expected to play a pivotal role in advancing the promise of genomic medicine for all. With the inclusion of individuals from underrepresented communities, the All of Us Research Program is paving the way for a more comprehensive understanding of genetic medicine that can benefit all members of society.
The All of Us program is an exemplary model for inclusive biomedical research and has the potential to significantly impact the field of genomics and human health. As it continues to yield results, it stands as a beacon of hope for the future of healthcare and emphasizes the importance of diversity and representation in research efforts.
