Precision Medicine Activities
Research Making a Difference
Research Making a Difference

WHY IT'S IMPORTANT
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.
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- Precision Medicine Activities
KEY ACCOMPLISHMENTS
- 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.
OPPORTUNITIES & CHALLENGES
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.
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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.
Empowering Data Science for Scientific Discovery
NHLBI's BioData Catalyst is a shared virtual space where scientists can access and work with the digital objects of biomedical research, such as data and software. The cloud-based platform for tools, applications, and workflows, and it provides secure workspaces to share, store, cross-link, and analyze large sets of data generated from biomedical and behavioral research, such as NHLBI’s Trans-Omics for Precision Medicine (TOPMed) Program, while also ensuring patient privacy.
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—behavorial, biological, environmental, and psychosocial—that may influence how people respond to obesity treatments. The ADOPT Project encourages researches 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 the NIH.
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