October 10, 2025 — Rockville, Md. — Psomagen was honored to be selected as a TOPMed 2.0 sequencing vendor in September 2023. Since then, our labs have had the opportunity to deliver a wealth of genetic data contributing to this project.
In this article, we discuss TOPMed’s goals and data sources; Psomagen’s contributions two years into our participation; and what we hope TOPMed means for future disease research projects.
About the TOPMed Program
The Trans-Omics in Precision Medicine (TOPMed) program is an ongoing effort led by the National Heart, Lung, and Blood Institute (NHLBI). The initiative is generating whole genome and other -omics data to improve our understanding of heart, lung, blood, and sleep disorders. Founded in 2014, TOPMed makes use of genetic, molecular, behavioral, imaging, environmental, and clinical data for prevention and treatment efforts.
Dr. Su Hong, Psomagen CEO, is excited about the implications of such a large dataset: "The scale of TOPMed is unprecedented — more than 180,000 whole genome sequences paired with rich phenotypic data. It’s groundbreaking to see this level of diversity and depth in a single initiative, and we’re honored that Psomagen can contribute to a resource that is transforming precision medicine research."
TOPMed genomic data and the pre-existing parent study phenotypic data are available in the NHLBI BioData Catalyst (BDC) ecosystem to researchers granted access through the NIH Database of Genotypes and Phenotypes (dbGaP). BDC is a cloud-based ecosystem providing tools, applications, and workflows in secure workspaces where researchers can find, access, share, store, and compute on large-scale datasets that are hosted in the ecosystem or that researchers bring to it.
TOPMed has contributed to research published in almost 150 publications and posted over 200 abstracts at numerous professional meetings.
Psomagen’s Participation in TOPMed
Psomagen was selected as one of eight total whole genome sequencing service providers for TOPMed 2.0 in their 2023 request for proposals. Of the selected institutions, Psomagen is the only commercial entity among a group of academic core labs.
"Our participation in TOPMed draws on Psomagen’s strengths in large-scale whole genome sequencing, rigorous quality standards, and integrated multiomics," Dr. Hong explained. "Being the only commercial lab selected speaks to the trust placed in our expertise, and our ability to deliver end-to-end solutions under one roof gives researchers an efficient, reliable partner for advancing complex projects."
Contributions to Research
Psomagen whole genome sequencing data has been incorporated into the TOPMed database, and used in several TOPMed-fueled studies. These instances have been excellent examples of what’s possible with genome-wide association studies when a large dataset is available.
A November 2024 study researched germline and somatic factors contributing to coronary artery disease (CAD) risk. Using UK Biobank and TOPMed data, this team created a genomic model better equipped to predict an individual’s risk for CAD. This model was able to differentiate individuals with high risk despite a lack of major genetic risk factors, as well as individuals with a low risk despite having known genetic risk factors.
At the time the paper was released, this was the only integrated genetic model incorporating all available CAD information to generate a single risk estimate for individual genomes.
In a recent paper, “Whole genome sequence analysis of low-density lipoprotein cholesterol across 246 K individuals,” researchers analyzed whole genome data for LDL cholesterol. The project integrated over 240,000 participants’ genomes, sourced from TOPMed and UK Biobank data. The team identified over 700 rare coding and non-coding gene associations, which will be used to better understand therapeutic targets for coronary artery disease.
Beyond specific disease-related insights, this paper is considered a framework for large whole-genome association studies. It is a particularly useful example of a population study conducted across several diverse population groups. Psomagen was a partner providing WGS for this paper.
In this study of >88,000 participants from TopMed sequencing data in which 51% of participants are of non-European ancestry, researchers identified a novel variant in MTMR3 that was unique in persons of African ancestry. Mutations in MTMR3 are associated with kidney disease, which is common in persons of African descent. Additional loci linked to obesity were identified and these variants are being evaluated for potential to be causative. If so, they may serve as future drug targets to decrease the frequency of obesity in populations of African ancestry.
Studies utilizing TopMed’s WGS data across a diverse set of populations are enabling findings that will benefit persons of non-European ancestry by identifying factors that are unique to them.
Future Implications of TOPMed Data
TOPMed data is meant to provide an expansive, long-term resource for disease researchers. Projects are ongoing, with additional samples being collected for the next several years. TOPMed data have already made great strides in identifying key disease biomarkers and risk profiles. They have also provided particular value in better understanding biomarkers in under-researched populations.
“As TOPMed continues to grow, we see its potential to shape the next generation of medical breakthroughs," Dr. Hong said. "Psomagen is committed to supporting projects that expand access to diverse genomic data and bring us closer to a future where precision medicine is a standard in treatment and prevention.”
