US health systems launch Truveta Genome Project to build largest database of genotypic and phenotypic information

The project, backed by leading US health systems, Regeneron, and Microsoft, aims to build the world’s largest and most diverse genetic database to advance real-world evidence (RWE), AI-driven research, and personalized medicine.

Leading US health systems have announced the launch of the Truveta Genome Project, an initiative to build the world’s largest and most diverse genetic database. In collaboration with the Regeneron Genetics Center® (RGC), the project aims to sequence up to 10 million exomes, paving the way for advancements in drug discovery, clinical trials, and personalized medicine.

Key participants in this collaboration include Advocate Health, CommonSpirit Health, Henry Ford Health, Northwell Health, Providence, and Trinity Health. With the goal of generating genetic data from tens of millions of consented and de-identified volunteers, the Truveta Genome Project will surpass current efforts such as the UK Biobank, which contains genetic and health data from 500,000 participants and is currently the world’s largest genetic database. The initiative is designed to include representation across ancestries, ethnicities, and other social drivers of health, addressing gaps in existing datasets and enabling deeper exploration of how genetics impact health outcomes.

Eugene A Woods, CEO of Advocate Health, stated:

“Improving our understanding of the genome can transform healthcare by unlocking both the causes and cures of diseases… because this dataset is drawn from the most diverse spectrum of volunteers, the resulting medical breakthroughs will have the power to benefit everyone.”

The RGC will sequence exomes from leftover biospecimens collected during routine lab tests, which will be linked to de-identified medical records while maintaining strict privacy standards. The biospecimens will also be stored for future multiomics research. Sequencing data will be added to Truveta Data, a platform built on Microsoft Azure, enabling researchers to leverage AI to accelerate drug development, optimize clinical trials, and advance disease prevention and treatment.

“The scale and diversity of the Truveta Genome Project will enable us to explore the complex interplay between genetics and health in unprecedented detail,” said Dr Aris Baras, Senior Vice President at Regeneron and Head of RGC. “With nearly three million exomes sequenced at RGC to date, Regeneron scientists have already identified dozens of genetic-based drug targets for a wide range of conditions – including chronic liver disease, obesity, cancer, and neurodegenerative conditions – that have led to multiple clinical-stage treatments. As we continue to scale our genomics initiatives, we seek more targets and medicines, while expanding the potential impact of our research to optimize clinical trials and personalize healthcare delivery.”

Advancing personalized medicine

The project is backed by significant investment, with 17 health systems, Illumina, and Regeneron contributing $320 million to Truveta. Microsoft has also integrated its AI and cloud infrastructure to support the initiative. Terry Myerson, CEO and co-founder of Truveta, stated:

“Nations have spent decades and billions of dollars to try and uncover the mysteries of biology to advance healthcare… the Truveta Genome Project enables each of us to anonymously contribute to dramatically accelerate progress in discovering the science of humanity, improving the health of our families and communities, and lowering the cost of care.”

The Truveta Genome Project will integrate genotypic data with de-identified electronic health record (EHR) data from over 120 million patients, enabling research into genetic links to diseases and the development of targeted treatments and diagnostic tools.

“The opportunity to advance personalized medicine has never been stronger,” said Jason Graefe, Corporate Vice President, ISV & Digital Natives at Microsoft Corp. “By integrating Azure’s infrastructure and AI capabilities, Truveta Genome Project will deliver new insights into the causes of and cures for diseases… ultimately transforming how diseases are understood, prevented, diagnosed, and cured.”