Dozens of health systems representing millions of patients across the United States are collaborating with the Truveta Genome Project, Regeneron Genetics Center and genomic sequencing company Illumina to sequence the exomes of their first ten million volunteers. 

As part of what may be the largest and most diverse sequencing project of genotypic and phenotypic information ever assembled, the health systems said in Truveta's announcement Monday that their collaboration would aid in the development of next-generation data analytics to advance diagnoses, improve the efficacy of clinical trials and drive a more equitable future in healthcare. 

"This is the database the world needs now," Erik Wexler, president and CEO of Providence, said in a video statement that accompanied the announcement.

WHY IT MATTERS

In working with 30 health systems that represent a diverse cross-section of U.S. patients, Truveta said its goal is to build a robust foundation for analytics insights that serve population health management initiatives, drive the discovery of new treatments and therapeutics and address barriers to health equity.

A cast of prominent health system leaders said the project centers on discovering "the science of humanity."

Through the initiative, healthcare sites across the U.S. will obtain patient consent to utilize biospecimens from lab tests linked to their de-identified electronic health records for anonymized genetic research, according to the announcement. They will send them to RGC for genetic sequencing and all de-identified information will be added to Truveta Data, which uses the Truveta Language Model. 

Built on Microsoft Azure, the large-language, multi-modal artificial intelligence model transforms billions of data points with normalization, Truveta said. The regulatory-grade data is updated daily and offered as a resource for biopharma and academic researchers working to accelerate AI-driven drug discovery, optimize clinical trials and transform how diseases are prevented, diagnosed and cured.

The data could improve clinical trial efficiency by identifying patient populations most likely to respond to specific treatments, reduce costs and increase success rates. Leftover biospecimens will also be stored to support future multi-omics sequencing by life science organizations studying population exome data, Truveta said. 

"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," Dr. Aris Baras, senior vice president at Regeneron and head of the RGC, said in a statement.

"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," he explained.

"We believe the cure for cancer may live in this valuable data," which could fuel personalized patient care and customized treatments and create opportunities to prevent disease, Wexler said in the statement.

"In four years, we made scientifically rigorous research possible on data for over 120 million patients to advance healthcare for all." 

"With this research into how genetic factors affect our health, based on tens of millions of records and harnessing the power of AI, we can then deliver tailored treatments based on a patient's unique genetic makeup," Eugene Woods, Advocate Health CEO, added.

"In other words, we can help more people get healthy and stay healthy."

"Now, with Truveta, we hope to deepen our understanding of the ways that specific groups are uniquely affected by their environments or other factors and develop targeted approaches to prevent and treat illness," Wright Lassiter III, CEO of CommonSpirit Health, said. 

Bob Riney, CEO of Henry Ford Health, noted that participation in the genome project underscores the health system's commitment to innovation, but also to "delivering the highest standard of care to those we serve."

"The Truveta Genome Project has the potential to transform healthcare from treating disease to preventing disease, and we are excited to make it happen," Michael Dowling, CEO of Northwell Health, said.

THE LARGER TREND

Fourteen major health systems banded together in 2021 to launch Truveta, the Seattle-based data-driven precision medicine and population health platform to help mine existing datasets and gain new insights at scale.

"We have a unique opportunity today to rebuild the health care system in our country, so it is better, stronger, and more responsive to the needs of everyone – especially the vulnerable and underserved populations," Lloyd Dean, now chief executive emeritus of CommonSpirit Health, said at the time.

Later that year, Truveta partnered with Microsoft to broaden the reach of its population health analytics with Azure-based AI and security tools.

This latest endeavor builds on a previously announced strategic investment by 17 health systems, Illumina and Regeneron, Truveta said.

ON THE RECORD

"The 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," said Terry Myerson, CEO and founder of Truveta, in a statement.

"This collaboration underscores our dedication to improving patient care and advancing value-based care initiatives, ultimately transforming how diseases are understood, prevented, diagnosed and cured," added Jason Graefe, corporate vice president of ISV and digital natives for Microsoft.

Andrea Fox is senior editor of Healthcare IT News.
Email: afox@himss.org
Healthcare IT News is a HIMSS Media publication.