Precision Medicine Activities

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<li class='breadcrumb-home'><a href='/'>Home</a></li><li class='breacrumb-break'>/</li><li class='breadcrumb-parent'><a href='/node/80002'><span class='back-to'> < Back To </span>The Science</a></li><li class='breacrumb-break'>/</li><li class='breadcrumb-current'>Precision Medicine Activities</li></ul></div></div> <article class="node node--type-scientific-focus-area node--view-mode-full" data-title="Precision Medicine Activities" data-type="scientific_focus_area" data-format="" data-audience="" data-campaign="" > <div class="standard"> <div class="field field--name-field-top-texture-banner field--type-list-string field--label-hidden field__item"> <div class="pageBanner"> <div class="banner-new-blue"></div> </div> </div> <div class="secondary-grey-background"> <div class="responsive-container responsive-container-constrained"> <div class="content-container page-top"> <div class="rtFlexContainer"> <div class="rtTitleClassification"> <h1> <span>Precision Medicine Activities</span> </h1> <div class="calloutdescription"> <div class="field field--name-field-definition field--type-string field--label-hidden field__item">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.</div> </div> </div> <div class="onThisPage"> <div class="pagenavtitle"> On this page </div> <ul> <li><a href="#makingadifference">Research Making a Difference</a></li> <li><a href="#whyimportant">Why It's Important</a></li> <li><a href="#keyaccomplishments">Key Accomplishments</a></li> <li><a href="#opportunities">Opportunities & Challenges</a></li> <li><a href="#advancingresearch">Advancing the Research</a></li> <li><a href="#relatedreading">Related Reading</a></li> </ul> </div> </div> </div> </div> </div> <div class="responsive-container responsive-container-constrained"> <div class="content-container research-making-a-difference"> <div class="field field--name-field-making-a-difference field--type-entity-reference-revisions field--label-hidden field__item"><div class="flexcontainer paragraph paragraph--type--making-a-difference paragraph--view-mode--default" id="makingadifference"> <h2 class="phone-display" id="makingadifference-phone">Research Making a Difference</h2> <div class="flexItemTextHalf"> <h2 class="desktop-tablet-display" id="makingadifference-desktop">Research Making a Difference</h2> <div class="pullquote"> African Americans with a variant of the APOL1 gene … have almost twice the risk of cardiovascular disease" </div> <div class="bodytext"> <div class="field field--name-field-research-description field--type-string field--label-hidden field__item">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.</div> </div> <div class="desktop-display"> <div class="field field--name-field-url field--type-link field--label-hidden field__item"><a href="https://www.nhlbi.nih.gov/news/spotlight/success/jackson-heart-study-largest-investigation-heart-disease-african-americans-promises-pave-way-better" rel="noreferrer">Read more about the JHS.</a></div> </div> </div> <div class="flexItemImageHalf"> <div class="image-and-photocredit-container"> <div class="field field--name-field-thumbnail field--type-image field--label-hidden field__item"> <img loading="lazy" src="/modules/custom/nhlbi_blazy/images/clear.png" width="768" height="512" alt="Health professional adminstering a blood pressure reading with a patient in a chair." data-src="/sites/default/files/styles/16x9_crop/public/2017-11/Precision%20Medicince%20Activities_1.jpg?itok=ACZW9j6B" class="b-lazy image-style-_6x9-crop" /> </div> </div> </div> </div> <div class="tablet-phone-display"> <div class="field field--name-field-url field--type-link field--label-hidden field__item"><a href="https://www.nhlbi.nih.gov/news/spotlight/success/jackson-heart-study-largest-investigation-heart-disease-african-americans-promises-pave-way-better" rel="noreferrer">Read more about the JHS.</a></div> </div> </div> </div> </div> <div class="pale-blue-darker-white-background"> <div class="responsive-container responsive-container-constrained"> <div class="content-container why-its-important storycalloutbox"> <div class="storycallouttitle" id="whyimportant"> <h2 class="why-its-important-header">WHY IT'S IMPORTANT</h2> </div> <div class="storycallouttext"> <div class="bodytext"> <div class="field field--name-field-why-important-description field--type-text-long field--label-hidden field__item"><p>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) <a href="https://www.joinallofus.org/" rel="noreferrer"><em>All of Us</em></a> 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.</p></div> </div> <div class="supplemental-accordion"> <div class="field field--name-field-why-important-accordion field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <h3 class="graysubaccordionheading" id="more-information-845"> <div class="field field--name-field-panel-title field--type-string field--label-hidden field__item">More Information</div> <span class="ui-helper-hidden-accessible"> - Precision Medicine Activities </span> </h3> <div class="ui-accordion ui-widget ui-helper-reset paragraph paragraph--type--standard-accordion-panelparagraph--view-mode--default" > <div class="bodytext"> <div class="field field--name-field-accordion-body field--type-text-long field--label-hidden field__item"><p>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.</p> <p>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 <a href="https://www.nhlbi.nih.gov/node/80061" rel="noreferrer">Framingham Heart Study (FHS)</a>, <a href="https://www.nhlbi.nih.gov/node/80058" rel="noreferrer">Jackson Heart Study (JHS)</a>, and <a href="https://www.nhlbi.nih.gov/node/80057" rel="noreferrer">Women’s Health Initiative (WHI)</a> — to advance precision medicine for heart, lung, blood, and sleep disorders.</p></div> </div> <div class="readMoreContainer"> </div> </div> </div> </div> </div> </div> </div> </div> </div> <div class="tertiaryBlueBackground"> <div class="responsive-container responsive-container-constrained"> <div class="content-container key-accomplishments storycalloutbox"> <div class="storycallouttitle" id="keyaccomplishments"> <h2 class="key-accomplishments-header">KEY ACCOMPLISHMENTS</h2> </div> <div class="storycallouttext storycalloutlist"> <div class="field field--name-field-key-accomplishments field--type-string field--label-hidden field__items"> <ul> <li><div class="field__item calloutdata font-size-xl">NHLBI designed the Trans-Omics for Precision Medicine (TOPMed) program to complement the NIH All of Us Research Program and Precision Medicine Initiative.</div></li> <li><div class="field__item calloutdata font-size-xl">In its initial phase, focused on whole genome sequencing (WGS), the TOPMed program has sequenced nearly 200,000 genomes from diverse populations. </div></li> <li><div class="field__item calloutdata font-size-xl">The second phase of TOPMed is underway to generate a collection of genomic, epigenomic, transcriptomic, proteomic, and metabolomic data.</div></li> <li><div class="field__item calloutdata font-size-xl">Data from these well-phenotyped individuals is used to build molecular profiles associated with health and disease.</div></li> <li><div class="field__item calloutdata font-size-xl">NHLBI partnered with the Foundation for NIH to help researchers identify new, personalized therapies for heart failure with preserved ejection fraction.</div></li> </ul> </div> </div> </div> </div> </div> <div class="responsive-container responsive-container-constrained"> <div class="content-container opportunities-and-challenges storycalloutbox"> <div class="storycallouttitle" id="opportunities"> <h2 class="opportunities-and-challenges-header">OPPORTUNITIES & CHALLENGES</h2> </div> <div class="storycallouttext"> <div class="field field--name-field-opportunities-description field--type-text-long field--label-hidden field__item"><p>In 2016, NHLBI released its <a href="https://www.nhlbi.nih.gov/node/80111" rel="noreferrer">Strategic Vision</a>, 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.</p></div> <div class="supplemental-accordion"> <div class="field field--name-field-opportunities-accordion field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <h3 class="graysubaccordionheading" id="more-information-837"> <div class="field field--name-field-panel-title field--type-string field--label-hidden field__item">More Information</div> <span class="ui-helper-hidden-accessible"> - Precision Medicine Activities </span> </h3> <div class="ui-accordion ui-widget ui-helper-reset paragraph paragraph--type--standard-accordion-panelparagraph--view-mode--default" > <div class="bodytext"> <div class="field field--name-field-accordion-body field--type-text-long field--label-hidden field__item"><p>The TOPMed program supports NHLBI’s precision medicine activities by collecting and coupling genomic data and other -omics data. In biology, <em>-omics</em> 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.</p> <p>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.</p> <p>The TOPMed program empowers investigators to pursue their research through:</p> <ul> <li>Discovering biomarkers that increase or decrease the risk of heart, lung, blood, and sleep disorders</li> <li>Discovering molecular bases underlying racial and ethnic disparities in the prevalence of some heart, lung, blood, and sleep disorders, such as asthma</li> <li>Understanding how environmental factors interact with genes to preserve health or contribute to the risk of heart, lung, blood, and sleep disorders</li> <li>Studying molecular phenotypes associated with social determinants of health</li> <li>Identifying potential drug targets</li> <li>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</li> <li>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</li> <li>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</li> </ul> <p>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.</p></div> </div> <div class="readMoreContainer"> </div> </div> </div> </div> </div> </div> </div> </div> <div class="pale-blue-darker-white-background"> <div class="responsive-container responsive-container-constrained"> <div class="content-container advancing-the-research"> <h2 id="advancingresearch">Advancing the Research</h2> <div class="field field--name-field-advancing-description field--type-text-long field--label-hidden field__item"><p>NHLBI is advancing precision medicine in many ways. Learn about some of NHLBI’s efforts to support research on precision medicine.</p></div> <div class="field field--name-field-sub-category field--type-entity-reference-revisions field--label-hidden field__items"> <div class="paragraph paragraph--type--sfa-sub-category paragraph--view-mode--default"> <div class="field field--name-field-sfa-card field--type-entity-reference-revisions field--label-hidden field__items"> <div class="field__item"> <div class="science-instance-card"> <div class="field field--name-field-icon field--type-list-string field--label-hidden field__item"> <div class="card-icon"> <div class="card-icon-branch-lab"></div> </div> </div> <h3> <div class="field field--name-field-card-title field--type-string field--label-hidden field__item">We Perform Research</div> </h3> <div class="bodytext"> <div class="field field--name-field-description field--type-text-long field--label-hidden field__item"><p>NHLBI’s<strong> </strong><a href="https://www.nhlbi.nih.gov/node/80034" rel="noreferrer"><strong><span>Division of Intramural Research</span></strong></a><span> 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.</span></p></div> </div> </div> </div> <div class="field__item"> <div class="science-instance-card"> <div class="field field--name-field-icon field--type-list-string field--label-hidden field__item"> <div class="card-icon"> <div class="card-icon-branch-lab"></div> </div> </div> <h3> <div class="field field--name-field-card-title field--type-string field--label-hidden field__item">We Fund Research</div> </h3> <div class="bodytext"> <div class="field field--name-field-description field--type-text-long field--label-hidden field__item"><p>The research we fund today will help improve our future health. Many NHLBI divisions, such as the <a href="https://www.nhlbi.nih.gov/node/80033" rel="noreferrer"><strong><span>Center for Translation Research and Implementation Science</span></strong></a><span>, the </span><a href="https://www.nhlbi.nih.gov/node/80036" rel="noreferrer"><strong><span>Division of Cardiovascular Sciences</span></strong></a><span>, the<strong> </strong></span><a href="https://www.nhlbi.nih.gov/node/80029" rel="noreferrer"><strong><span>Division of Blood Diseases and Resources</span></strong></a><span>, and the </span><a href="https://www.nhlbi.nih.gov/node/80030" rel="noreferrer"><strong><span>Division of Lung Diseases</span></strong></a><span>, are helping fund research to advance NHLBI precision medicine activities for heart, lung, blood, and sleep disorders.</span></p></div> </div> </div> </div> <div class="field__item"> <div class="science-instance-card"> <div class="field field--name-field-icon field--type-list-string field--label-hidden field__item"> <div class="card-icon"> <div class="card-icon-programs"></div> </div> </div> <h3> <div class="field field--name-field-card-title field--type-string field--label-hidden field__item">The Promise of Precision Medicine</div> </h3> <div class="bodytext"> <div class="field field--name-field-description field--type-text-long field--label-hidden field__item"><p>Through NHLBI’s <a href="https://www.nhlbi.nih.gov/node/80055" rel="noreferrer"><strong><span>Trans-Omics for Precision Medicine (TOPMed) program</span></strong></a><span>, 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.</span></p></div> </div> </div> </div> <div class="field__item"> <div class="science-instance-card"> <div class="field field--name-field-icon field--type-list-string field--label-hidden field__item"> <div class="card-icon"> <div class="card-icon-research-tools"></div> </div> </div> <h3> <div class="field field--name-field-card-title field--type-string field--label-hidden field__item">Empowering Data Science for Scientific Discovery</div> </h3> <div class="bodytext"> <div class="field field--name-field-description field--type-text-long field--label-hidden field__item"><p>NHLBI’s <a href="https://www.nhlbi.nih.gov/science/biodata-catalyst" rel="noreferrer"><strong><span>BioData Catalyst</span></strong></a><span class="MsoHyperlink"><span><strong> </strong></span></span><span>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 </span><a href="https://www.nhlbi.nih.gov/science/trans-omics-precision-medicine-topmed-program" rel="noreferrer"><strong><span>Trans-Omics for Precision Medicine (TOPMed) Program</span></strong></a><span>, supporting NHLBI’s efforts toward precision medicine.</span></p></div> </div> </div> </div> <div class="field__item"> <div class="science-instance-card"> <div class="field field--name-field-icon field--type-list-string field--label-hidden field__item"> <div class="card-icon"> <div class="card-icon-programs"></div> </div> </div> <h3> <div class="field field--name-field-card-title field--type-string field--label-hidden field__item">Developing Personalized Strategies for Obesity Treatment</div> </h3> <div class="bodytext"> <div class="field field--name-field-description field--type-text-long field--label-hidden field__item"><p>The <a href="https://www.nhlbi.nih.gov/science/adopt" rel="noreferrer"><strong><span>Accumulating Data to Optimally Predict obesity Treatment (ADOPT) Core Measures Project</span></strong></a><span> 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.</span></p></div> </div> </div> </div> <div class="field__item"> <div class="science-instance-card"> <div class="field field--name-field-icon field--type-list-string field--label-hidden field__item"> <div class="card-icon"> <div class="card-icon-research-tools"></div> </div> </div> <h3> <div class="field field--name-field-card-title field--type-string field--label-hidden field__item">Providing Tools to Foster Collaborative Research</div> </h3> <div class="bodytext"> <div class="field field--name-field-description field--type-text-long field--label-hidden field__item"><p>The <a href="https://www.phenxtoolkit.org/" rel="noreferrer"><strong><span>PhenX Toolkit</span></strong></a><span> 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.</span></p></div> </div> </div> </div> <div class="field__item"> <div class="science-instance-card"> <div class="field field--name-field-icon field--type-list-string field--label-hidden field__item"> <div class="card-icon"> <div class="card-icon-research-tools"></div> </div> </div> <h3> <div class="field field--name-field-card-title field--type-string field--label-hidden field__item">Providing Data on Genotype and Phenotype Interaction for Precision Medicine Research</div> </h3> <div class="bodytext"> <div class="field field--name-field-description field--type-text-long field--label-hidden field__item"><p>TOPMed researchers have started releasing Whole Genome Sequencing Project data through the NIH <a href="https://www.ncbi.nlm.nih.gov/gap" rel="noreferrer"><strong><span>Database of Genotypes and Phenotypes (dbGaP)</span></strong></a><span>. 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.</span></p></div> </div> </div> </div> </div> </div> </div> <a class="viewmorebutton" href = "/science/all-science?field_related_sfas_target_id=80042" >View all science about Precision Medicine Activities </a> </div> </div> </div> <a id="relatedreading"></a> <div class="responsive-container responsive-container-constrained"> <div class="content-container-margin"> <div class="related-ht-press-container"> <div class="card"> <h2>Related Health Topics</h2> <div class="related-topics"> <div class="field field--name-field-related-health-topics field--type-entity-reference field--label-hidden field__items"> <div class="field__item"><a href="/health/asthma" hreflang="en">What Is Asthma?</a></div> <div class="field__item"><a href="/health/sickle-cell-disease" hreflang="en">What Is Sickle Cell Disease?</a></div> <div class="field__item"><a href="/node/92320" hreflang="en">High Blood Pressure</a></div> </div> </div> </div> </div> </div> </div> <div class="tertiaryBlueBackground"> <div class="responsive-container responsive-container-constrained"> <div class="content-container-margin"> <div class="field field--name-field-related-news-single field--type-entity-reference field--label-hidden field__item"> <h2><div class="whitesubhead font-size-l"> RELATED NEWS </div></h2> <article class="featured-science-instance-teaser-container node node--type-feature-article node--promoted node--view-mode-featured-science-instance-teaser"> <div class="flexItemImageThird"> <div class="image-and-photocredit-container"> <div class="field field--name-field-hero-image field--type-image field--label-hidden field__item"> <img loading="lazy" src="/modules/custom/nhlbi_blazy/images/clear.png" width="768" height="432" alt="A 3D image of a heart is shown." data-src="/sites/default/files/styles/16x9_crop/public/2022-11/iStock-943715826.jpeg?h=ed608c73&itok=mkpYl2JR" class="b-lazy image-style-_6x9-crop" /> </div> </div> </div> <div class="flexTextWithImage flexItemText"> <div class="font-size-l bannerdate"> <time datetime="2022-12-14T14:30:00Z" class="datetime"><span>December 14, 2022</span></time> <div class="paddedBar"> | </div> Research Feature </div> <div class="herobannertitle" > <a href="/news/2022/accelerating-heart-failure-research" rel="bookmark"> <span>Accelerating heart failure research</span> </a> </div> <div class="bodytext"> <div class="field field--name-field-additional-introduction field--type-text-long field--label-hidden field__item"> An NIH-supported research partnership aims to transform heart failure research to bring personalized therapies to patients Every minute of every day the heart pumps about five quarts of blood – nearly 20 glassfuls – throughout the body. 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