Precision Medicine Activities
Research Making a Difference
Research Making a Difference
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’s) All of Us Research Program, will collect data from one 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.
The NHLBI’s precision medicine activities, which complement ongoing NIH efforts, are contributing to the evidence that one day will be used to deliver personalized interventions that reduce the burden of heart, lung, blood, and sleep disorders. The NHLBI is working with various NIH partners to share data and technical advice to stimulate and coordinate precision medicine research efforts.
The NHLBI’s precision medicine activities are poised to leverage the Institute’s long-term investments in biomedical research—such as biospecimen and clinical data sets from existing, large NHLBI 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.
- The NHLBI designed the Trans-Omics for Precision Medicine (TOPMed) program to complement the NIH All of Us Research Program and Precision Medicine Initiative.
- To support the TOPMed program, the NHLBI’s Whole Genome Sequencing (WGS) project has sequenced over 90,000 genomes and aims to sequence more than 120,000.
In 2016, the NHLBI released its Strategic Vision, which will guide the Institute’s research activities for the coming decade. 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 will leverage 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 will also investigate health differences among populations in order to develop more targeted treatment and prevention strategies and reduce health disparities.
The TOPMed program will support the 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 will lead to more research opportunities that further our understanding and improve how we predict, prevent, diagnose, and treat heart, lung, blood, and sleep disorders.
Establishing the WGS project was one of the first steps for the TOPMed program. The WGS project is collecting whole-genome sequencing data for individuals who have well-defined clinical phenotypes and outcomes from earlier NHLBI-funded studies. The TOPMed program studies are collecting other -omics data in a subset of WGS project participants. Currently, these -omics studies are collecting RNA, gene, and metabolite profiles from individuals who participated in the NHLBI-funded Multi-Ethnic Study of Atherosclerosis (MESA).
The TOPMed program has the following goals:
- Discover biomarkers that increase or decrease the risk of heart, lung, blood, and sleep disorders.
- Discover molecular bases underlying racial and ethnic disparities in the prevalence of some heart, lung, blood, and sleep disorders, such as asthma.
- Understand how environmental factors interact with genes to preserve health or contribute to the risk of heart, lung, blood, and sleep disorders.
- Identify potential drug targets.
- Redefine heart, lung, blood, and sleep disorders or subtypes of these disorders based on molecular signatures instead of current tissue/organ-based approaches to medicine.
- Enable 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.
- Accelerate 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, the NHLBI plans to review applications from researchers interested in contributing samples for TOPMed WGS and other -omics studies. The NHLBI is also supporting efforts to develop new ways to analyze -omics data and will work with the NIH to present TOPMed data in NIH’s Data Commons.
Advancing the Research
The NHLBI is advancing precision medicine in many ways. Learn about some of NHLBI’s efforts to support research on precision medicine.
We Perform Research
The 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.
Providing Whole-Genome Sequencing Data for Precision Medicine Research
To support the NHLBI TOPMed program, the Whole-Genome Sequencing (WGS) Project is collecting whole-genome sequencing data from individuals with well-defined phenotypes and existing clinical outcomes data. The goal is to identify genetic markers of increased or decreased risk of disease, as well as markers that help define disease subtypes.
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 the NIH.