Genomic Data in the All of Us Research Program

The All of Us Research Program is making significant strides in mapping the genetic basis of human disease. With a focus on diversity and inclusion, the program aims to enroll at least one million individuals across the USA to accelerate biomedical research and improve human health. The latest release from the program includes 245,388 clinical-grade genome sequences, with 77% of participants coming from historically under-represented communities and 46% from under-represented racial and ethnic minorities.

This comprehensive dataset has identified over 1 billion genetic variants, including more than 275 million previously unreported genetic variants, with coding consequences for over 3.9 million. Leveraging the linkage between genomic data and electronic health records, the program evaluated 3,724 genetic variants associated with 117 diseases and found high replication rates across participants of European and African ancestry.

Summary-level data are publicly available, and researchers can access individual-level data through the All of Us Researcher Workbench using a unique data passport model, with a median time from initial researcher registration to data access of 29 hours. This diverse dataset is expected to advance the promise of genomic medicine for all.

Comprehensively identifying genetic variation and its contribution to health and disease, in conjunction with environmental and lifestyle factors, is a central goal of human health research. The All of Us Research Program aims to address the historic under-representation of diverse subsets of individuals in biomedical research by enrolling and collecting comprehensive health data on at least one million individuals across the USA.