What is the goal of the TOPMed program?
The goal of the TOPMed program is to generate scientific resources that will improve the understanding of heart, lung, blood, and sleep disorders and advance precision medicine. Precision medicine is an emerging approach to disease prevention and treatment that considers the unique genes and environment of each patient.
The TOPMed program collects whole-genome sequencing and other -omics data. In biology, -omics refers to measurable differences or changes in biological molecules, such as genes, metabolites, proteins, and RNA. The program will integrate -omics data with molecular, behavioral, imaging, environmental, and clinical data to improve the prevention and treatment of heart, lung, blood, and sleep disorders.
The TOPMed program supports the National Heart, Lung, and Blood Institute (NHLBI) Precision Medicine Activities. The program also complements the All of Us Research Program, which is inviting one million people across the U.S. to help study a range of health issues and diseases.
In 2016, the NHLBI released its Strategic Vision, which guides the Institute’s research activities. The TOPMed program addresses many of the objectives, compelling questions, and critical challenges identified in the plan. For example, the program leverages new technologies and advances in data science to promote discoveries about the earliest origins of diseases and individual differences in disease processes. The program also leverages data from diverse participants in NHLBI’s population and epidemiology studies to enable research on health differences among populations.
AT A GLANCE
- TOPMed consists of over 180,000 whole-genome sequences, of which around 60% are of predominantly non-European ancestry.
- TOPMed program studies are collecting -omics data—metabolic profiles, epigenetics, and protein and RNA expression patterns.
- The TOPMed program is leveraging data from NHLBI’s clinical and population studies.
How does the TOPMed program contribute to scientific discoveries?
The TOPMed program supports research that furthers our understanding of heart, lung, blood, and sleep disorders. The program may lead to future scientific discoveries such as:
- Treatments tailor-made to individual patients that shed light on racial and ethnic health disparities
- New ways to screen, diagnose, and treat patients for a variety of heart conditions by studying the genetic underpinnings of heart and vascular disease
- Biomarkers that increase or decrease the risk of heart, lung, blood, and sleep disorders
- Interactions between the environment and genes that affect health
- Potential targets for new treatments
- New ways to define heart, lung, blood, and sleep disorders or subtypes of these disorders based on molecular signatures
- Targeted ways to develop and test personalized treatments in specific patients
- Advances in precision medicine to predict, prevent, diagnose, and treat heart, lung, blood, and sleep disorders
How does the TOPMed program work?
The TOPMed program is collecting whole-genome sequencing data for individuals who have well-defined clinical phenotypes and outcomes from earlier NHLBI-funded studies. Currently, TOPMed consists of over 180,000 whole-genome sequences from over 85 different studies. Prospective cohorts provide large numbers of disease risk factors, subclinical disease measures, and incident disease cases; case-control studies provide large numbers of prevalent disease cases; extended family structures and population isolates provide improved power to detect rare variant effects.
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.
The TOPMed program consortium includes many centers, including the Administrative Coordinating Center and the Informatics Research Center that serve the entire TOPMed program.
Trans-Omics for Precision Medicine (TOPMed) Program
The TOPMed program consortium includes many centers, including the Data Coordination Center and the Informatics Research Center that serve the entire TOPMed program. As the TOPMed program grows, the NHLBI anticipates that other centers will join the consortium.