What if you could harness the power of everything that makes you biologically you—your sex, ancestry, genetic minutiae—to help accelerate drug discovery and prevent and cure diseases? The health care innovators behind the new Truveta Genome Project, billed as the world’s largest and most diverse genetic database, are hoping you will.
Truveta, a health data startup launched in 2020, announced the massive undertaking Jan. 13 along with biotech firm Illumina and the Regeneron Genetics Center, an arm of Fortune 500 company Regeneron Pharmaceuticals. Regeneron invested $119.5 million in Truveta’s Series C funding round, while Illumina chipped in $20 million. In addition, 17 of Truveta’s 30 partner health systems collectively contributed $180.5 million.
As part of its quest to “discover the science of humanity,” the Truveta Genome Project will gather the de-identified genetic data of tens of millions of consented volunteers. Truveta touts the endeavor as being more than 10 times the scale of other health care databases, such as the UK Biobank, which includes 500,000 participants recruited between 2006 and 2010. The All of Us Research Program, spearheaded by the National Institutes of Health (NIH), aims to enroll at least a million people.
Having joined forces with more than two dozen health systems around the country, such as Detroit-based Henry Ford Health, No. 89 on Fortune’s 2024 Most Innovative Companies list, Truveta’s existing data set already accounts for 18% of all clinical care across the country, cofounder and CEO Terry Myerson tells Fortune. Still, questions arose that those data couldn’t answer. For example, why does COVID vaccination work wonderfully for some, while others suffer breakthrough infections?
“A thesis is that our genetics, our fundamental genetics, is at the core of that and so many other things,” Myerson says. “But that data’s not available. It’s not available at any scale. It is available for specific genetic biomarkers that determine cancer care, but for everything else—sickle cell, dementia, obesity, so many things—we just don’t have any genetic data at any scale to really understand the biology of these diseases so that we can treat them better, prevent them, come up with new therapies.”
In the age of precision medicine, one-size-fits-all health care is becoming obsolete. That’s why diversity is a cornerstone of the Truveta Genome Project, Myerson says, which will also examine social determinants of health. For example, despite the meaningful biomedical research that the UK Biobank has spurred, it’s based on an overwhelmingly white populace.
“Truveta is incredibly diverse,” Myerson says, referring to its partner networks. “Hawaii Pacific Health has its Polynesian audience; Providence extends from Juneau, Alaska, down to south central LA; Northwell Health (of New York) talks about treating patients that speak [more than 200] different languages…we’re talking about the full diversity of the United States.”
There’s catching up to do, as the bulk of the nation’s medical research has relied upon the genetics of white men. The NIH Revitalization Act of 1993 urged “an increase in the number of women and individuals from disadvantaged backgrounds (including racial and ethnic minorities) in the fields of biomedical and behavioral research.” Yet it wasn’t until 2016 that the NIH required studies to account for sex as a biological variable. Meanwhile, diversity, equity, and inclusion (DEI) measures are being scaled back en masse as President-elect Donald Trump prepares to take over the White House a second time.
If all goes as planned, Myerson says, the Truveta Genome Project will unlock insights into patient care and propel drug discovery.
“The world needed this to exist,” Myerson says.
Regeneron SVP: ‘The power of genomics is very real, and here and now’
The Regeneron Genetics Center has pledged to sequence the exomes—the protein-coding parts of genomes—of the project’s first 10 million patient volunteers. Those data will join Regeneron’s existing DNA sequence-linked health care database of nearly 3 million people.
Part of the company’s interest in joining the Truveta Genome Project was the ambition to close data gaps in the nation’s “fragmented” health care system, says Dr. Aris Baras, senior vice president of Regeneron and head of its Genetics Center.
“We don’t have tremendous data platforms in this country, unfortunately, to understand human health and disease,” Baras tells Fortune. “We don’t have centralized health records in this country. If you compare to the United Kingdom and their National Health Service—they’re famous for their centralized databases and how powerful that is for all walks of life there, for providers, scientists, the government to understand disease, its costs, its consequences, how to manage it.”
While the Truveta Genome Project may sound like an abstract entity accessible only to the likes of academics and drug developers, Baras stresses that the American public will reap the benefits—and relatively soon.
“The power of genomics is very real, and here and now. It’s simply not this aspirational thing that won’t touch someone’s life,” Baras says. “[Genomics] used to be niche, but now it’s mainstream.”
For instance, we know that mutations in the genes BRCA1 and BRCA2 are associated with a higher risk of breast and ovarian cancer in women and breast and prostate cancer in men. People can undergo genetic testing to see if they’ve inherited such errors, allowing them and their doctors to make more informed decisions about preventive care. Cancer patients who later discover these mutations may be eligible for targeted therapies.
“We’re really going to open up the floodgates…we’re going to be able to use the genome and these big data sets of health information so that we know, with much better precision, what everyone’s biggest risks are,” Baras says, noting that medicine tends to be more reactive than proactive. “What we’ve proven in health care is, when you get ahead of things, it’s a much easier task.”
How do I join the Truveta Genome Project?
The next time you get a routine lab test, such as a blood draw, through a participating health system, staff will obtain your informed consent to use leftover biospecimens for anonymized genetic research. (Participation is optional; you’re free to visit a partner lab without contributing to the project.) Your biospecimen will be sent to the Regeneron Genetics Center for genetic sequencing, then stored for future analysis.
Of course, a project of this scale couldn’t be done without the help of AI. The Truveta Language Model, built on Microsoft Azure, will handle billions of data points. Microsoft joined forces with Truveta in 2021, and Azure will be the exclusive cloud provider of the Truveta Genome Project.
With something as sacred as your genetic material in its hands, Truveta and its partners appreciate that you may be concerned about data privacy.
“All of this health information—their health records and the biospecimens—are coming to us de-identified,” Regeneron spokesperson Ella Campbell tells Fortune. “We have all of these data security systems in place to ensure that we’re being really good stewards of the data and that we put data privacy as our No. 1 priority.”
For more on the pharmaceutical industry:
- Zepbound vs. Wegovy: New clinical trial says this weight-loss medication sheds more pounds
- Moderna says it’s ‘one step closer’ to a norovirus vaccine as the virus spreads across the U.S.
- Merck-AstraZeneca breast cancer drug reduces risk of death by 28% in patients diagnosed early, clinical trial shows
- Antidepressant not working? AI may do a better job than your doctor in matching you with the best medicine
- Viagra may help reduce Alzheimer’s risk, according to a new study. An expert explains the surprising connection
