A5036817473- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Ethics in Clinical Research
- Cancer Genomics and Diagnostics
- Genetic Associations and Epidemiology
- Pharmacogenetics and Drug Metabolism
- Biomedical Text Mining and Ontologies
- Health Systems, Economic Evaluations, Quality of Life
- Biomedical Ethics and Regulation
- Ethics in medical practice
- Patient Dignity and Privacy
- Genetic factors in colorectal cancer
- Cardiac pacing and defibrillation studies
- Enzyme Catalysis and Immobilization
- Intensive Care Unit Cognitive Disorders
- Bariatric Surgery and Outcomes
- Nutrition, Genetics, and Disease
- Cardiac electrophysiology and arrhythmias
- Primary Care and Health Outcomes
- Prenatal Screening and Diagnostics
- Analytical Chemistry and Chromatography
- Urinary and Genital Oncology Studies
- Obesity and Health Practices
- Patient-Provider Communication in Healthcare
- Cardiomyopathy and Myosin Studies
Northwestern University
2016-2025
National Organization for Rare Disorders
2024
Cincinnati Children's Hospital Medical Center
2022
Children's Hospital of Philadelphia
2022
Children's Hospital & Medical Center
2022
Boston Children's Hospital
2022
Royal Brompton & Harefield NHS Foundation Trust
2021
MRC London Institute of Medical Sciences
2021
Imperial College London
2021
University of Wisconsin–Madison
2017
Research assessing attitudes toward consent processes for high-throughput genomic-wide technologies and widespread sharing of data is limited. In order to develop a better understanding stakeholder views these issues, this cross-sectional study assessed public biorepository participant research participation genetic data. Forty-nine individuals participated in 6 focus groups; 28 3 groups 21 NUgene groups. the groups, 75% participants were women, had some college education or more, 46%...
We describe here the design and initial implementation of eMERGE-PGx project. eMERGE-PGx, a partnership Electronic Medical Records Genomics Network Pharmacogenomics Research Network, has three objectives: (i) to deploy PGRNseq, next-generation sequencing platform assessing sequence variation in 84 proposed pharmacogenes, nearly 9,000 patients likely be prescribed drugs interest 1- 3-year time frame across several clinical sites; (ii) integrate well-established clinically validated...
In 2011, an Advanced Notice of Proposed Rulemaking proposed that de-identified human data and specimens be included in biobanks only if patients provide consent. The National Institutes Health Genomic Data Sharing policy went into effect 2015, requiring broad consent from almost all research participants.We conducted a systematic literature review attitudes toward biobanking, consent, sharing. Bibliographic databases MEDLINE, Web Science, EthxWeb, GenETHX. Study screening was using...
Genetic variation can affect drug response in multiple ways, although it remains unclear how rare genetic variants response. The electronic Medical Records and Genomics (eMERGE) Network, collaborating with the Pharmacogenomics Research began eMERGE‐PGx, a targeted sequencing study to assess 82 pharmacogenes critical for implementation of “precision medicine.” February 2015 eMERGE‐PGx data release includes sequence‐derived from ∼5,000 clinical subjects. We present variant frequency spectrum...
<h3>Importance</h3> Large-scale DNA sequencing identifies incidental rare variants in established Mendelian disease genes, but the frequency of related clinical phenotypes unselected patient populations is not well established. Phenotype data from electronic medical records (EMRs) may provide a resource to assess relevance variants. <h3>Objective</h3> To determine EMRs for individuals with designated as pathogenic by expert review arrhythmia susceptibility genes. <h3>Design, Setting, and...
Abstract Influenza A Virus (IAV) is a recurring respiratory virus with limited availability of antiviral therapies. Understanding host proteins essential for IAV infection can identify targets alternative host-directed therapies (HDTs). Using affinity purification-mass spectrometry and global phosphoproteomic protein abundance analyses using three strains (pH1N1, H3N2, H5N1) in human cell types (A549, NHBE, THP-1), we map 332 IAV-human protein-protein interactions 13 IAV-modulated kinases....
Return of individual genetic results to research participants, including participants in archives and biorepositories, is receiving increased attention. However, few groups have deliberated on specific or weighed deliberations against relevant local contextual factors.The Electronic Medical Records Genomics (eMERGE) Network, which includes five biorepositories conducting genome-wide association studies, convened a return oversight committee identify potentially returnable results....
Phenome-wide association studies (PheWAS) have demonstrated utility in validating genetic associations derived from traditional as well identifying novel associations. Here we used an electronic health record (EHR)-based PheWAS to explore pleiotropy of variants the fat mass and obesity associated gene (FTO), some which been previously with type 2 diabetes (T2D). We a population 10,487 individuals European ancestry genome-wide genotyping Electronic Medical Records Genomics (eMERGE) Network...
Abstract This preliminary report describes the use of interstitial laser photocoagulation to manage small breast cancers. Forty-four patients were treated with a diode 805 nm under local anaesthesia in interval between diagnosis and surgery. Ultrasonography was used 42 computed tomography (CT) two place fibre tumour monitor effects. Laser-induced necrosis within resected varied from 0 25 mm diameter. The presence charring around tip after treatment associated significantly larger diameters...
In 2007, the National Human Genome Research Institute (NHGRI) established Electronic MEdical Records and GEnomics (eMERGE) Consortium ( www.gwas.net ) to develop, disseminate, apply approaches research that combine DNA biorepositories with electronic medical record (EMR) systems for large-scale, high-throughput genetic research. One of major ethical administrative challenges eMERGE has been complying existing data-sharing policies. This paper discusses sharing genomic data linked health...
Ten organizations within the Electronic Medical Records and Genomics Network developed programs to implement pharmacogenomic sequencing clinical decision support into settings. Recognizing importance of informed prescribers, a variety strategies were used incorporate provider education implementation. Education experiences with pharmacogenomics are described context each organization's prior involvement, including scope scale implementation specific their projects. We describe common...
Hereditary hemochromatosis (HH) is a common autosomal-recessive disorder associated with pathogenic HFE variants, most commonly those resulting in p.Cys282Tyr and p.His63Asp. Recommendations on returning incidental findings of variants individuals undergoing genome-scale sequencing should be informed by penetrance estimates HH unselected samples. We used the eMERGE Network, multicenter cohort genotype data linked to electronic medical records, estimate diagnostic rate clinical 98 homozygous...
We examined the Institutional Review Board (IRB) process at 9 academic institutions in electronic Medical Records and Genomics (eMERGE) Network, for proposed health record-based genomic medicine studies, to identify common questions concerns. Sequencing of 109 disease related genes genotyping 14 actionable variants is being performed ~28,100 participants from sites. Pathogenic/likely pathogenic are returned study participants. each site's research protocols, informed-consent materials,...
A goal of the 3rd phase Electronic Medical Records and Genomics (eMERGE3) Network was to examine return results (RoR) actionable variants in more than 100 genes consenting participants their healthcare providers. Each 10 eMERGE sites developed plans for three essential elements RoR process: Disclosure participant, notification health care provider, integration into electronic record (EHR). Procedures protocols around these were adapted as appropriate individual site requirements limitations....
Background Genome sequencing coupled with electronic heath record data can uncover medically important genetic variation. Interpretation of rare variation and its role in mediating cardiovascular phenotypes is confounded by variants uncertain significance. Methods Results We analyzed the whole genome sequence 900 racially ethnically diverse biobank participants selected from a single US center. Participants were equally divided among European, African, Hispanic, mixed races/ethnicities....
The electronic Medical Records and Genomics (eMERGE) (Phase I) network was established in 2007 to further genomic discovery using biorepositories linked the health record (EHR). In Phase II, which began 2011, efforts continue addition is investigating best practices for implementing medicine, particular, return of results EHR use by physicians at point-of-care. To develop strategies addressing challenges medicine clinical setting, eMERGE conducting studies that clinically-relevant research...
Chronic rhinosinusitis (CRS) is prevalent, morbid, and poorly understood. Extraction of electronic health record (EHR) data patients with CRS may facilitate research on CRS. However, the accuracy using structured billing codes for EHR-driven phenotyping unknown. We sought to accurately identify cases controls EHR determine identifying CRS.We developed validated distinct algorithms International Classification Diseases, Ninth Revision (ICD-9) Current Procedural Terminology codes. used blinded...
Resistant hypertension is defined as high blood pressure that remains above treatment goals in spite of the concurrent use three antihypertensive agents from different classes. Despite important health consequences resistant hypertension, few studies have been conducted. To perform a genome-wide association study for we and identified cases hypertensives with treated, controlled among >47,500 adults residing US linked to electronic records (EHRs) genotyped part MEdical Records & GEnomics...