Precision Medicine Activities

Precision medicine is an emerging approach to disease prevention and treatment that considers the unique genes and environment of each patient. The ultimate goal of precision medicine is to provide the right treatment at the right time, tailored to a patient’s individual needs.

Research Making a Difference

Research Making a Difference

African Americans with a variant of the APOL1 gene … have almost twice the risk of cardiovascular disease"
It is the most sweeping — and significant — study ever of cardiovascular disease in African Americans. Now experts with the groundbreaking Jackson Heart Study (JHS) are taking stock of some of the many insights gleaned since the study began in 2000.
Health professional adminstering a blood pressure reading with a patient in a chair.


The Precision Medicine Initiative, which launched in 2015, is a bold research effort to revolutionize how we improve health and treat disease. A key element of this effort, the National Institutes of Health’s (NIH) All of Us Research Program, collects data from 1 million or more people living in the United States to help study a range of health issues and diseases. In 2016, Congress passed the 21st Century Cures Act, which provides additional support for the Precision Medicine Initiative.

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- Precision Medicine Activities

NHLBI’s precision medicine activities, which complement ongoing NIH efforts, are contributing to the evidence that will someday be used to deliver personalized interventions that reduce the burden of heart, lung, blood, and sleep disorders. NHLBI is working with various NIH partners to share data and technical advice to stimulate and coordinate precision medicine research efforts.

NHLBI’s precision medicine activities are poised to leverage the Institute’s long-term investments in biomedical research — such as biospecimen and clinical datasets from NHLBI’s existing large population studies, including the Framingham Heart Study (FHS), Jackson Heart Study (JHS), and Women’s Health Initiative (WHI) — to advance precision medicine for heart, lung, blood, and sleep disorders.


  • NHLBI designed the Trans-Omics for Precision Medicine (TOPMed) program to complement the NIH All of Us Research Program and Precision Medicine Initiative.
  • In its initial phase, focused on whole genome sequencing (WGS), the TOPMed program has sequenced nearly 200,000 genomes from diverse populations.
  • The second phase of TOPMed is underway to generate a collection of genomic, epigenomic, transcriptomic, proteomic, and metabolomic data.
  • Data from these well-phenotyped individuals is used to build molecular profiles associated with health and disease.
  • NHLBI partnered with the Foundation for NIH to help researchers identify new, personalized therapies for heart failure with preserved ejection fraction.


In 2016, NHLBI released its Strategic Vision, which guides the Institute’s research activities. Many of the objectives, compelling questions, and critical challenges identified in the plan focus on precision medicine. For example, studying basic biology will help us to better define health and understand the earliest origins of disease processes. Our research leverages new technologies and advances in data science to provide insights into the prevention and precise treatment of heart, lung, blood, and sleep disorders. Our research also investigates health differences among populations in order to develop more targeted treatment and prevention strategies and reduce health disparities.

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The TOPMed program supports NHLBI’s precision medicine activities by collecting and coupling genomic data and other -omics data. In biology, -omics refers to measurable differences or changes in biological molecules, such as genes, metabolites, proteins, and RNA. NHLBI precision medicine activities lead to more research opportunities that further our understanding and improve how we predict, prevent, diagnose, and treat heart, lung, blood, and sleep disorders.

The WGS revealed hundreds of millions of genetic variants. To better understand the impact of the variants on diseases, efforts to collect other omics data from a subset of WGS participants are underway in the second phase of TOPMed. The omics data include DNA methylation, mRNA, protein, and metabolite profiles. More data types, such as single-cell omics, are being considered.

The TOPMed program empowers investigators to pursue their research through:

  • Discovering biomarkers that increase or decrease the risk of heart, lung, blood, and sleep disorders
  • Discovering molecular bases underlying racial and ethnic disparities in the prevalence of some heart, lung, blood, and sleep disorders, such as asthma
  • Understanding how environmental factors interact with genes to preserve health or contribute to the risk of heart, lung, blood, and sleep disorders
  • Studying molecular phenotypes associated with social determinants of health
  • Identifying potential drug targets
  • Redefining heart, lung, blood, and sleep disorders or subtypes of these disorders based on molecular signatures instead of current tissue/organ-based approaches to medicine
  • Enabling clinical trials to test treatments in a targeted way, such as in patients with specific genetic markers identified in the WGS project, to help develop personalized interventions
  • Accelerating systems medicine and emerging precision medicine in order to predict, prevent, diagnose, and treat heart, lung, blood, and sleep disorders based on a patient’s unique genes, environment, and molecular signatures

To help build -omics data for the TOPMed program, NHLBI reviews applications from researchers interested in contributing samples for TOPMed WGS and other -omics studies. NHLBI is also supporting efforts to develop new ways to analyze -omics data and will work with NIH to present TOPMed data in the NIH Data Commons.

Advancing the Research

NHLBI is advancing precision medicine in many ways. Learn about some of NHLBI’s efforts to support research on precision medicine.

We Perform Research

NHLBI’s Division of Intramural Research studies diseases that affect the heart, blood vessels, and lungs and is actively engaged in research relevant to precision medicine activities, such as how genes, environment, and lifestyle contribute to cardiovascular disease and how genes affect response to treatment.

We Fund Research

The research we fund today will help improve our future health. Many NHLBI divisions, such as the Center for Translation Research and Implementation Science, the Division of Cardiovascular Sciences, the Division of Blood Diseases and Resources, and the Division of Lung Diseases, are helping fund research to advance NHLBI precision medicine activities for heart, lung, blood, and sleep disorders.

The Promise of Precision Medicine

Through NHLBI’s Trans-Omics for Precision Medicine (TOPMed) program, researchers will use data from studies focused on heart, lung, blood, and sleep disorders to better predict, prevent, diagnose, and treat sleep disorders based on a patient’s unique genes, environment, and molecular signatures.

Empowering Data Science for Scientific Discovery

NHLBI’s BioData Catalyst is a shared, cloud-based platform and community where scientists can access and work with biomedical research data. While ensuring patient privacy, it provides secure workspaces to share, store, cross-link, and analyze large datasets generated from biomedical and behavioral research, such as the Trans-Omics for Precision Medicine (TOPMed) Program, supporting NHLBI’s efforts toward precision medicine.

Developing Personalized Strategies for Obesity Treatment

The Accumulating Data to Optimally Predict obesity Treatment (ADOPT) Core Measures Project identified a set of 50 Core Measures, or factors, spanning four domains — behavioral, biological, environmental, and psychosocial — that may influence how people respond to obesity treatments. The ADOPT Project encourages researchers to use these Core Measures consistently in new clinical trials to develop targeted and potentially more effective strategies to treat obesity.

Providing Tools to Foster Collaborative Research

The PhenX Toolkit is an online catalog of standard measures of phenotypes and exposures for use in genome-wide association studies and other biomedical research. The toolkit’s standard measures can help researchers collaborate and combine study data to further precision medicine research.

Providing Data on Genotype and Phenotype Interaction for Precision Medicine Research

TOPMed researchers have started releasing Whole Genome Sequencing Project data through the NIH Database of Genotypes and Phenotypes (dbGaP). The dbGaP was developed to archive and distribute data from studies that have investigated the interaction of genotype and phenotype, including all genome-wide association studies supported by NIH.

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