The eMERGE Network brings together researchers with a wide range of expertise in genomics, statistics, ethics, informatics, and clinical medicine from leading medical research institutions across the country. Each center participating in the consortium is uniquely situated to provide critical resources to this highly collaborative and productive network. Each site combines a biobank or study cohort with extensive genomic data and access to clinical data derived from electronic medical records. Sites are geographically dispersed and have diverse patient populations, including two sites focusing specifically on pediatrics. Member sites include:
Participant Sites: Project Overview
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Children’s Hospital of Philadelphia (CHOP)
Principal Investigator: Hakon Hakonarson, MD, PhD
The Center for Applied Genomics (CAG) is a specialized Center of Emphasis at the Children’s Hospital of Philadelphia (CHOP) with the primary goal of translating basic research findings to medical innovations. The mission of CAG is to develop new and better ways to diagnose and treat children affected by rare and complex medical disorders. We aim to discover genetic causes for the most prevalent diseases of childhood including ADHD, asthma, autism, diabetes, epilepsy, obesity, schizophrenia, pediatric cancer, and a range of rare diseases. Ultimately, our objective is to generate new diagnostic tests and to guide physicians to the most appropriate therapies.Our participants are recruited from the CHOP Health Care Network, which includes over 50 sites throughout Pennsylvania and New Jersey, 100% of which use Epic EMR system. This constitutes the country’s largest pediatric integrated delivery system, supporting >1.1 million visits/year within the primary and specialty care networks, community-based inpatient pediatric and neonatal programs, a rehabilitation hospital, and a home care service. It provides acute- and well-care to patients in urban, rural, and suburban settings.
Cincinnati Children’s Hospital Medical Center (CCHMC)
Principal Investigators: Cindy Prows, MSN, APRN, CNS; Leah Kottyan, PhD
Principal Investigators: Wendy Chung, PhD, MS; George Hripcsak, MD,MS; Krzysztof Kiryluk, MD; Chunhua Weng PhD, MS
Icahn School of Medicine at Mt. Sinai (Mt. Sinai)
Principal Investigators: Eimear Kenny, PhD; Noura Abul-Husn, MD, PhD
Mass General Brigham
Principal Investigators: Elizabeth Karlson, MD; Shawn Murphy, MD, PhD; Jordan Smoller, MD, ScD; Scott Weiss, MD, MS
Aim 1, Discovery. We will test the hypothesis that PRS will allow us to stratify eMERGE participants based on genetic risk for common complex traits. We will develop new PRS for coronary artery disease, atrial fibrillation, type 2 diabetes, colorectal cancer and depression in diverse GWAS populations and validate multi-ethnic PRS in the Mass General Brigham Biobank and eMERGE III dataset. We will obtain PRS from our network colleagues for an additional 15 electronic phenotypes with a goal of identifying high-risk subjects Aim 2. Report development. We will develop a “Risk Insight Report” combining clinical risk factors, family history, and PRS with evidence-based recommendations for high risk participants ( e.g. top 2% of PRS distribution) for electronic clinical implementation. We will analyze the independent contribution of clinical risk factors, family history, and PRS using multivariable methods. Our ELSI subaim will test the impact and interpretability mock Risk Insight Reports. We will assess the extent to which the mock reports are understood by both providers and patients to minimize harms and maximize benefits of genomic risk assessment in eMERGE IV; Aim 3. Implementation. We will test the hypothesis that health-care providers will alter their surveillance and treatment of participants based on electronic clinical decision support (eCDS) of Risk Insight Reports. Among providers for high-risk participants, we will see at least one change in clinical care after disclosure discussions with participants (eg.assess ordering screening tests, prescribing a preventive therapy, or providing lifestyle advice). We will conduct an analysis of the effect of disclosing results to high risk participants to determine how personalized results changed patient outcomes in laboratory values, risk reduction behaviors, or health care utilization.
Mayo Clinic (Mayo)
Principal Investigators: Iftikhar Kullo, MD; Richard Sharp, PhD
Northwestern University (NU)
Principal Investigators: Rex Chisholm, PhD; Elizabeth McNally, MD,PhD; Laura Rasmussen-Torvik,PhD
University of Alabama at Birmingham (UAB)
Principal Investigators: Nita Limdi Pharm.D, PhD, MSPH, FAHA; James Cimino, PhD
Our eMERGE team aims to bring our experience and expertise in research with medically underserved (>75%) and African American (30-40%) populations to identify genomic signatures of common diseases, conduct genomic risk assessments within the clinical workflow and where appropriate, pre-treat at-risk patients with common diseases including diabetes, chronic obstructive pulmonary disease, obesity, coronary artery disease and prostate cancer. Our aims will also allow us to develop genomic risk assessments for African Americans, and address challenges involved in bringing genomic medicine into routine medical care.
Working with the eMERGE network, we will select the fifteen diseases of public health impact and select polygenic risk scores, (making adaptations (if any) for African Americans) for clinical implementation. To strengthen the evaluation of race-specific genomic risk, we bring an additional cohort of over 25,000 AAs.
We will conduct an ethical legal social implications (ELSI) study, to explore patient perspectives on the use of family history and polygenic risk scores for estimating disease risk among Alabama Genomic Health Initiative (a statewide cohort) participants. The results will inform the development of consent, educational materials, and a communication strategy to enhance recruitment and retention of eMERGE participants.
Recruiting over 75% of patients from medically underserved communities, we will incorporate genomic risk, family history, and clinical data to identify high-risk patients, recommending risk reduction recommendations in concordance with practice guidelines. For high-risk patients, we will deploy clinical decision support and present the genomic risk assessments and risk reduction recommendations. We will assess three outcomes: uptake of recommendations (implementation outcome), adherence to clinic visits (engagement outcome), and surrogates of disease/control (clinical outcome; e.g. blood sugar, cholesterol). We bring our expertise and experience to collaborate with the eMERGE investigative team to leverage the power of genomics to prevent disease.
University of Washington(UW)
Principal Investigators: Gail Jarvik, MD, PhD; David Crosslin,PhD
Vanderbilt University Medical Center (VUMC)
Principal Investigators: Dan Roden, MD; Digna Velez Edwards PhD, MS; Wei-Qi Wei MD, PhD
eMERGE Network Coordinating Center (CC)
Principal Investigators: Josh Peterson, MD, MPH (VUMC); Niall Lennon,PhD (Broad)
External Scientific Panel
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