NEW YORK, July 1 — 747,000 participants. That is the headline number for the National Institutes of Health’s All of Us research programme, which officials say has now assembled the world’s largest integrated health database combining human genomes with clinical records. The figure that matters for researchers: 535,000 whole genomes are now linked to 482,000 electronic health records.
That bundle includes doctor’s notes, diagnoses and testing results. The National Institutes of Health announced the milestone on June 30.
By the numbers, this vaults past the UK Biobank, the prior leading genomic repository. That repository holds genomes and health records for about 500,000 participants. But its pool is almost entirely people with white European ancestry, which limits clinical implications for other groups.
The All of Us database, by contrast, recruits from diverse backgrounds across the United States. It pairs genetic information with real-world data from electronic health records, wearable technology such as Fitbits, health surveys on socioeconomic factors and location-based exposure data including air quality.
The programme started in 2018. “One of the most exciting components is its sheer diversity,” said Alicia Martin, a statistical geneticist at the Broad Institute who already uses All of Us data to build and test risk prediction tools.
The database, she said, “offers forward-thinking opportunities to try to understand not just who is at risk of disease, but also who is more likely to progress or have some exacerbated health condition, and who is going to respond to specialised treatments.” The bottom line: this is a data set built for the personalised medicine era. Researchers can now investigate potential causes of and treatments for disease across a population that reflects diverse backgrounds. Researchers will note this changes the playing field for drug development and diagnostic tools.
A database this size, with this level of diversity, allows scientists to ask questions the UK Biobank simply could not answer for non-European populations. The milestone arrives as the programme continues enrolling participants.
The goal is to keep building what officials call a resource that can power discovery for decades. Consult your doctor for medical advice.
