By Kristin Rand, PhD, MPH, Senior Director of Genomics Partnerships at Truveta
Over the last 15 months, I’ve been focused on building the foundation for the Truveta Genome Project, an ambitious collaboration with participating health systems to create a consented, de-identified genomic dataset linked with longitudinal clinical data. By connecting genetic information with patients’ clinical data, treatments, and outcomes over time, we aim to help researchers accelerate discovery and advance more precise care.
Since we announced the project, we have moved from planning to enrolling participants and collecting samples. This progress has given me a moment to reflect on what we are building, its potential impact on health research, and where we go from here.
Building the foundation
When I think about where the Truveta Genome Project is today, I am most proud of the solid foundation we’ve built. The most important aspect of our research is the patient, from the beginning stages of informed research consent to the long-term impact we hope to have on all patients. With that in mind, we have developed a robust, patient-centered protocol and informed consent process for the genetic samples we’re collecting, making sure our participants are aware and informed of the research we plan to do and the impact we hope to have on human health overall. We have also partnered closely with each of our participating health systems to provide the support and structure needed for large-scale research, while providing the autonomy needed to meet specific research and clinical needs.
These early steps have been complex, but this level of rigor at the outset is essential to building an ethical, robust, and scalable program. If we want to build something that serves patients, earns trust, and lasts, we must get the foundation right.
What makes this possible is the same thing that has made Truveta unique since our founding. Truveta was built by health systems whose people believed they could accomplish more together than they could alone. This shared commitment gave rise to Truveta, and today that sense of community powers the Truveta Genome Project.
Understanding the whole patient
Genomics holds extraordinary promise, but its clinical power depends entirely on context. The true value of a genetic variant emerges only when linked to phenotypes, treatments, and outcomes across large, diverse populations over time, capturing the full patient journey. The potential of the Truveta Genome Project lies in understanding genomic variation within the context of real-world patient experiences over time.
By combining genomic and longitudinal clinical data at an unprecedented scale, we can move beyond population averages and answer crucial questions like, why does disease manifest differently across patients? Why do two patients on the same therapy experience vastly different outcomes? How do we better understand disease risk within and across diverse populations, and how do we detect this risk earlier, before irreversible harm occurs?
Honoring patient trust
Health system participation sends a powerful signal to patients. It shows that this effort is grounded in the same organizations caring for patients every day. By inviting patients to participate in the Truveta Genome Project, our health systems are helping build a resource that will allow medicine to learn faster, act sooner, and deliver care that is more precise, more predictive, and more equitable.
As trusted healthcare providers, our health system members lead participant enrollment and informed consent, helping patients understand what participation means and make informed decisions about contributing to research. That direct connection to patients provides the clinical and ethical foundation that makes the Truveta Genome Project possible.
The Truveta Genome Project reflects Truveta’s longstanding commitment to Saving Lives with Data and investing in the future of precision medicine.
Creating a national research resource
The Truveta Genome Project operates under a centralized multi-site research protocol, in which Truveta serves as the study sponsor, and each participating health system assigns its own site principal investigator upon enrollment.
This approach reduces administrative burden and accelerates deployment, while still allowing health systems to maintain local oversight. Health systems have the flexibility to meet local requirements without sacrificing the benefits of participating in a large-scale national genomics initiative.
As more health systems join the project, we will continue refining our approach to scale responsibly while maintaining the principles that guided its design. Greater scale will also enable researchers to study genomic information alongside other types of biological and clinical data, opening new avenues for discovery.
Representation at scale
Our ambitious goal for the Truveta Genome Project is to enroll tens of millions of consenting participants and create the largest and most diverse database of genotypic and phenotypic information ever assembled. This diversity will lead to discoveries that affect ALL patients, not just those with certain diseases or specific ancestral backgrounds.
The project is powered by participating health systems and the patients and communities they serve, bringing together people from across the country to help build a resource that reflects the real world. Bringing together participants from diverse communities will help researchers better understand how genetic variation influences disease risk, treatment response, and outcomes across populations.
That is the future we are building toward. The foundation is in place, and we are only just getting started.
