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All of Us Research Program Biospecimen Access: An Opportunity to Transform Precision Medicine Through Multi-omics 

The NIH’s All of Us Research Program has spent 10 years assembling one of the most diverse and richly annotated human biospecimen banks ever created. More than 597,000 fully enrolled participants from every corner of the country, representing all walks of life, all genetic ancestries, and all the common chronic diseases in the US population, have contributed samples, electronic health records, and longitudinal health data to this growing national resource. In the next data release to the Researcher Workbench there will be 535,000 participants with whole genome sequencing, about 747,000 with survey responses, and about 469,000 with linked electronic health records.  

Now, through a new X01 Resource Access Award opportunity (PAR-27-069), NIH is opening the doors for researchers, pharma, biotech, and foundations to generate brand new data from participant biospecimens, at scale. New multi-omic data generated from this cohort could expose the molecular mechanisms of diseases we still don’t fully understand, reveal biomarkers that predict illness before symptoms appear, and accelerate the development of treatments that are more effective for patients across every genetic background. For researchers ready to ask the next big question, this opportunity offers a path forward.  

Interested researchers will register for the All of Us Researcher Workbench Controlled Tier to explore the available biospecimens and design their proposed study and participant cohort. All registered researchers are required to uphold All of Us’ strict participant privacy safeguards, including alignment with All of Us core values and adherence to All of Us Research Program policies. 

For researchers and organizations seeking to translate this unprecedented resource into high-quality, compliant, and impactful data, selecting the right operational partner will be just as critical as securing the specimens. Broad Clinical Labs (BCL) brings more than a decade of direct experience within the All of Us ecosystem, positioning it as a trusted, ready-to-scale partner for successful applicants. 

With the right scientific vision and an established, compliant laboratory partner, awardees can move quickly from sample to discovery—maximizing both the scientific and operational impact of their project. 

From Data Exploration to Data Generation 

Until now, much of the scientific community has interacted with All of Us as a data exploration resource, querying the public data browser, and analyzing existing genomic datasets with linked electronic health records. That work has been valuable, but it has been limited by the data types already available. 

The new biospecimen access program offers the potential to unlock fresh insights. 

“Almost all participants have genome sequencing and array data at this point,” says Niall Lennon, Chair and Chief Scientific Officer at Broad Clinical Laboratories, LLC. “But more and more, we are realizing that to extract the most meaningful insights we need to have not only genomics, but also other data types including, but not limited to, proteomics, and epigenomics data. These participant specimens represent a massively valuable national resource for discovery. To fully realize their value, we should be characterizing them as deeply as we can.” 

That kind of multi-dimensional characterization—the ability to turn a single biospecimen into a rich, layered data story—is now within reach for any researcher with the right scientific question and the right partner. 

For biospecimen access recipients, achieving this level of integration and rigor requires a partner with proven experience across multi-omic platforms, regulatory environments, and large-scale data delivery—capabilities that Broad Clinical Labs has developed through years of collaboration with the All of Us Research Program. 

Who Should Apply? 

The wide range of eligible applicants reflects this program’s ability to fuel discovery across the clinical research spectrum. Academic researchers with disease-focused questions, biopharma and biotech R&D teams, disease foundations, technology companies, and even other federal programs are all strong candidates. Groups with existing patient cohorts who need population-level controls, or who want to complement their own data with a uniquely diverse reference set, will find the All of Us biospecimen bank genuinely hard to match. 

What kinds of research questions can this program help answer? The possibilities include the discovery of biomarkers for complex diseases, new preventative medicine risk models, candidate therapeutic targets, and studies of disease onset in participants who enrolled before their diagnosis. The cohort’s exceptional diversity is central to its value: findings generated from All of Us participants will be relevant and generalizable across genetic ancestries, geographies, and socioeconomic backgrounds in ways that previous research cohorts simply could not achieve. 

As applicants evaluate whether and how to pursue this opportunity, early alignment with an experienced operational partner can significantly strengthen both the feasibility and competitiveness of their proposals. 

The Operational Reality and How to Navigate It 

It is important to note that the generation and submission of new data from All of Us biospecimens requires an adherence to specific conditions. The program’s commitment to participant privacy and data security means strict requirements govern how samples are handled, where data are generated, and how it is submitted and stored. For researchers who haven’t worked inside this system before, navigating the compliance infrastructure can feel as much of a challenge as the science itself. For many applicants, these operational requirements represent the single greatest risk to successful execution. This is where Broad Clinical Labs offers research partners a significant advantage. 

BCL has been an All of Us program partner since its inception. For awardees, this long-standing partnership translates into immediate operational readiness, reduced implementation risk, and confidence that projects will remain compliant from first sample to final data submission. The necessary operational “plumbing” is already built: sample chain of custody systems, data submission pipelines, and direct connections to both the Biorepository and the Data and Research Center are all in place. Researchers who partner with BCL don’t have to build that infrastructure from scratch or figure out the compliance requirements on their own. They can move from biospecimen access to processed data significantly faster than they could with any other provider. 

BCL has already demonstrated this on a pilot basis, generating multi-omic datasets for the program including long-read sequencing with methylation, plasma proteomic profiles, and total RNA sequencing. Our full menu of services spans genomics, proteomics, transcriptomics, epigenomics, and more, giving research teams the flexibility to design studies that capture the full molecular picture of their cohort of interest. Furthermore, BCL scientists and computational biologists are available to consult with and perform analyses for groups needing assistance. 

Clinical-Grade Quality for Research-Grade Discovery 

Generating multi-omic data at this scale is only useful if the data are accurate and reproducible. BCL’s quality management systems, the same standards applied to clinical diagnostics, are applied to every research project. For biopharma partners, this has real practical value: BCL is already pre-qualified as a vendor for many major pharmaceutical companies, indicating rigorous compliance standards and a history of successful audits. New partners can expect a smooth onboarding, knowing that BCL already operates at the high standard that the industry demands. 

Data security is held to the same high bar. Our data science and software teams are highly trained in the operation of regulated data platforms. BCL’s data delivery platforms, Terra (Google Cloud) and Manifold (AWS), are both NIST–800-53 compliant, which is the US government standard for managing controlled-access biomedical research data. 

The Decade Ahead 

The All of Us Research Program is part of a global movement to build learning healthcare systems that are smarter, more equitable, and more predictive. The multi-omics data generated through this biospecimen access program will drive discoveries into how chronic diseases develop, who is most at risk, and how they can best be treated. Those discoveries will eventually reshape screening guidelines, sharpen diagnostic accuracy, and open new therapeutic pathways for US residents of all backgrounds. 

For prospective applicants, engaging with Broad Clinical Labs early in the proposal development process can help ensure that study design, workflows, and budgets are fully aligned with program requirements and scientific goals.  

Ready to apply? Explore the X01 opportunity and contact Broad Clinical Labs to discuss the ways we can support your project from proposal to publication. 

Research reported in this blog was supported by the All of Us Research Program of the National Institutes of Health under OT number 2OD038121. The content is solely the responsibility of the authors and does not necessarily represent the official views of the National Institutes of Health. 

 

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Sean Hofherr

Chief of Clinical Strategy and Product Development, Broad Clinical Labs

Sean Hofherr is dual board certified by ABMGG in Clinical Biochemical Genetics and Clinical Molecular Genetics. Sean serves as the Chief of Clinical Strategy and Product Development at Broad Clinical Labs. In this role at BCL, Sean is able to leverage his extensive experience to guide the clinical vision and delivery across the organization. Sean most recently served as the Chief Operating Office at Fabric Genomics, which focuses on the use of AI and Bioinformatics for Clinical Interpretation of whole genome sequencing. Prior to Fabric, Sean was the Chief Scientific Officer and CLIA Director at the commercial reference laboratory, GeneDx.

Sean received his B.S. degree in Microbiology and Cell Sciences from the University of Florida before earning his Ph.D. in Molecular and Human Genetics from Baylor College of Medicine. Sean completed clinical fellowships in Clinical Biochemical Genetics and Clinical Molecular Genetics at the Mayo Clinic.

Danielle Perrin

Chief of Staff, Broad Clinical Labs

As Broad Clinical Labs’ Chief of Staff, Danielle Perrin advises and supports colleagues on the executive leadership team in BCL’s strategic planning and execution. She builds and leads new organizational functions and processes and leads critical projects, as well as driving effective information flow, decision making, and execution throughout the organization. An operations leader with a business, engineering, and biology background and 20+ years of experience in the genomics field, Perrin has a track record of driving operational excellence and building and scaling both physical and business processes. During her career at Broad, which started in 2003 at the tail end of the Human Genome Project, Perrin has led laboratory operations and R&D teams in Broad’s Genomics Platform, as well as fulfilling senior advisory and leadership roles in the Broad Institute’s COO and CFO offices.

Perrin received her B.S. in Biology and M.E. in Biotechnology Engineering from Tufts University and her M.B.A. from the MIT Sloan School of Management.

Tim De Smet

Chief Commercial Officer, Broad Clinical Labs

As Chief Commercial Officer of Broad Clinical Labs, Tim De Smet leads BCL’s business development, alliance management, external project management, and customer support teams. A Broad Institute employee since 2008, De Smet has held leadership roles and managed teams of various sizes in Broad’s Genomics Platform and clinical lab, spanning laboratory operations, finance, and informatics, and has expertise in work design, financial modeling, and high scale laboratory and business operations.

De Smet received his B.S. in Biochemistry and M.B.A. from Northeastern University.

Jim Meldrim

Chief Technology Officer, Broad Clinical Labs

As Chief Technology Officer, Jim Meldrim sets the vision for Broad Clinical Labs’ informatics systems, including the hardware and software used for sample intake and tracking, data production, analysis, and delivery. Having held a variety of laboratory and informatics-focused leadership roles at Broad, spanning R&D and production operations, Meldrim has been a leader and innovator in the generation, management, and analysis of genomic data since 1999, beginning with sequencing data generation for the Human Genome Project.

Meldrim received his B.S. in Biology from Cornell University.

Sheila Dodge

Chief Operating Officer, Broad Clinical Labs

As Chief Operating Officer, Sheila Dodge leads Broad Clinical Labs’ process development and implementation activities, as well as lab operations, financial planning and operations, quality & compliance, and core business processes. A Six Sigma Black Belt with extensive experience in process development and high throughput genomics operations, Dodge is an expert in work design and in collaborating with a range of collaborators, scientists, engineers, and technology partners to rapidly integrate new technologies and operationalize innovations. A member of the Broad Institute since 2001, Dodge is an Institute Scientist and lectures at the MIT Sloan School of Management on operations, dynamic work design, and visual management techniques.

Dodge received her B.A. in biochemistry and molecular biology from Boston University and her master’s degree in biology from Harvard University. She earned her M.B.A. from MIT Sloan School of Management.

Heidi Rehm, Ph.D., FACMG

Chief Medical Officer and Clinical Laboratory Director, Broad Clinical Labs

Heidi Rehm is board-certified by ABMGG in Clinical Molecular Genetics and Genomics and serves as BCL’s Chief Medical Officer and Clinical Laboratory Director. She oversees BCL’s regulatory requirements, leads the clinical team performing genomic interpretation and variant analysis, and guides BCL’s efforts in genomic testing for clinical and research use. She is also an Institute Member of the Broad and co-director of the Medical and Population Genetics Program. Rehm is also the Chief Genomics Officer in the Department of Medicine and Genomic Medicine Unit Director at the Center for Genomic Medicine at Massachusetts General Hospital, working to integrate genomics into medical practice. She is a principal investigator of ClinGen, providing free and publicly accessible resources to support the interpretation of genes and variants. She co-leads both the Broad Center for Mendelian Genomics, focused on discovering novel rare disease genes, and the Matchmaker Exchange, which aids in gene discovery. She is Chair of the Global Alliance for Genomics and Health, a principal investigator of the Broad-LMM-Color All of Us Genome Center, co-leader of the Genome Aggregation Database (gnomAD), and a Board Member and Vice President of Laboratory Genetics for the American College of Medical Genetics and Genomics.

Rehm received her B.A. degree in molecular biology and biochemistry from Middlebury College before earning her M.S. in biomedical science from Harvard Medical School and Ph.D. in genetics from Harvard University. She completed her post-doctoral training with David Corey in neurobiology and a fellowship in clinical molecular genetics at Harvard Medical School.

Niall Lennon, Ph.D.

Chair and Chief Scientific Officer, Broad Clinical Labs

As Chair and Chief Scientific Officer of Broad Clinical Labs, Niall Lennon leads the team and sets the scientific and clinical vision for the organization. Dr. Lennon joined the Broad Institute in 2006 and has since contributed to the development of applications for every major massively parallel sequencing platform across a range of fields. In 2013 Dr. Lennon led the effort to establish a CLIA licensed, CAP-accredited clinical laboratory at the Broad Institute to facilitate return of results to patients and to support clinical trials. More recently, he has led efforts to achieve FDA approval for large-scale genomics projects (NIH’s All of Us Research Program) and for Broad’s own clinical diagnostic for COVID-19 testing operation, which returned 37+ million results to patients. Dr. Lennon is a principal investigator of the eMerge and All of Us projects, an Institute Scientist at Broad, Associate Director of Broad’s Gerstner Center for Cancer Diagnostics, and an adjunct professor of biomedical engineering at Tufts University, where he teaches Molecular Biotechnology.

Dr. Lennon received a Ph.D. in pharmacology from University College Dublin and completed his postdoctoral studies at Harvard Medical School and Massachusetts General Hospital. He holds an executive certificate in management from the MIT Sloan School of Management.