Dataset Information

Extension of GWAS results for lipid-related phenotypes to extreme obesity using electronic health record (EHR) data and the Metabochip.

ABSTRACT: A variety of health-related data are commonly deposited into electronic health records (EHRs), including laboratory, diagnostic, and medication information. The digital nature of EHR data facilitates efficient extraction of these data for research studies, including genome-wide association studies (GWAS). Previous GWAS have identified numerous SNPs associated with variation in total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and triglycerides (TG). These findings have led to the development of specialized genotyping platforms that can be used for fine-mapping and replication in other populations. We have combined the efficiency of EHR data and the economic advantages of the Illumina Metabochip, a custom designed SNP chip targeted to traits related to coronary artery disease, myocardial infarction, and type 2 diabetes, to conduct an array-wide analysis of lipid traits in a population with extreme obesity. Our analyses identified associations with 12 of 21 previously identified lipid-associated SNPs with effect sizes similar to prior results. Association analysis using several approaches to account for lipid-lowering medication use resulted in fewer and less strongly associated SNPs. The availability of phenotype data from the EHR and the economic efficiency of the specialized Metabochip can be exploited to conduct multi-faceted genetic association analyses.

SUBMITTER: Parihar A

PROVIDER: S-EPMC4123014 | biostudies-literature | 2014

REPOSITORIES: biostudies-literature

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Extension of GWAS results for lipid-related phenotypes to extreme obesity using electronic health record (EHR) data and the Metabochip.

Parihar Ankita A Wood G Craig GC Chu Xin X Jin Qunjan Q Argyropoulos George G Still Christopher D CD Shuldiner Alan R AR Mitchell Braxton D BD Gerhard Glenn S GS

Frontiers in genetics 20140805

A variety of health-related data are commonly deposited into electronic health records (EHRs), including laboratory, diagnostic, and medication information. The digital nature of EHR data facilitates efficient extraction of these data for research studies, including genome-wide association studies (GWAS). Previous GWAS have identified numerous SNPs associated with variation in total cholesterol (TC), low-density lipoprotein cholesterol (LDL-C), high-density lipoprotein cholesterol (HDL-C), and t ...[more]

PMID: 25147553

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Project description:BackgroundElectronic health record (EHR) transitions are inherently disruptive to healthcare workers who must rapidly learn a new EHR and adapt to altered clinical workflows. Healthcare workers' perceptions of EHR usability and their EHR use patterns following transitions are poorly understood. The Department of Veterans Affairs (VA) is currently replacing its homegrown EHR with a commercial Cerner EHR, presenting a unique opportunity to examine EHR use trends and usability perceptions.ObjectiveTo assess EHR usability and uptake up to 1-year post-transition at the first VA EHR transition site using a novel longitudinal, mixed methods approach.DesignA concurrent mixed methods strategy using EHR use metrics and qualitative interview data.Participants141 clinicians with data from select EHR use metrics in Cerner Lights On Network®. Interviews with 25 healthcare workers in various clinical and administrative roles.ApproachWe assessed changes in total EHR time, documentation time, and order time per patient post-transition. Interview transcripts (n = 90) were coded and analyzed for content specific to EHR usability.Key resultsTotal EHR time, documentation time, and order time all decreased precipitously within the first four months after go-live and demonstrated gradual improvements over 12 months. Interview participants expressed ongoing concerns with the EHR's usability and functionality up to a year after go-live such as tasks taking longer than the old system and inefficiencies related to inadequate training and inherent features of the new system. These sentiments did not seem to reflect the observed improvements in EHR use metrics.ConclusionsThe integration of quantitative and qualitative data yielded a complex picture of EHR usability. Participants described persistent challenges with EHR usability 1 year after go-live contrasting with observed improvements in EHR use metrics. Combining findings across methods can provide a clearer, contextualized understanding of EHR adoption and use patterns during EHR transitions.

Project description:AimsUnderstanding atypical forms of diabetes (AD) may advance precision medicine, but methods to identify such patients are needed. We propose an electronic health record (EHR)-based algorithmic approach to identify patients who may have AD, specifically those with insulin-sufficient, non-metabolic diabetes, in order to improve feasibility of identifying these patients through detailed chart review.MethodsPatients with likely T2D were selected using a validated machine-learning (ML) algorithm applied to EHR data. "Typical" T2D cases were removed by excluding individuals with obesity, evidence of dyslipidemia, antibody-positive diabetes, or cystic fibrosis. To filter out likely type 1 diabetes (T1D) cases, we applied six additional "branch algorithms," relying on various clinical characteristics, which resulted in six overlapping cohorts. Diabetes type was classified by manual chart review as atypical, not atypical, or indeterminate due to missing information.ResultsOf 114,975 biobank participants, the algorithms collectively identified 119 (0.1%) potential AD cases, of which 16 (0.014%) were confirmed after expert review. The branch algorithm that excluded T1D based on outpatient insulin use had the highest percentage yield of AD (13 of 27; 48.2% yield). Together, the 16 AD cases had significantly lower BMI and higher HDL than either unselected T1D or T2D cases identified by ML algorithms (P<0.05). Compared to the ML T1D group, the AD group had a significantly higher T2D polygenic score (P<0.01) and lower hemoglobin A1c (P<0.01).ConclusionOur EHR-based algorithms followed by manual chart review identified collectively 16 individuals with AD, representing 0.22% of biobank enrollees with T2D. With a maximum yield of 48% cases after manual chart review, our algorithms have the potential to drastically improve efficiency of AD identification. Recognizing patients with AD may inform on the heterogeneity of T2D and facilitate enrollment in studies like the Rare and Atypical Diabetes Network (RADIANT).

Project description:BackgroundThe predominant implementation paradigm of electronic health record (EHR) systems in low- and middle-income countries (LMICs) relies on standalone system installations at facilities. This implementation approach exacerbates the digital divide, with facilities in areas with inadequate electrical and network infrastructure often left behind. Mobile health (mHealth) technologies have been implemented to extend the reach of digital health, but these systems largely add to the problem of siloed patient data, with few seamlessly interoperating with the EHR systems that are now scaled nationally in many LMICs. Robust mHealth applications that effectively extend EHR systems are needed to improve access, improve quality of care, and ameliorate the digital divide.ObjectiveWe report on the development and scaled implementation of mUzima, an mHealth extension of the most broadly deployed EHR system in LMICs (OpenMRS).MethodsThe "Guidelines for reporting of health interventions using mobile phones: mobile (mHealth) evidence reporting assessment (mERA)" checklist was employed to report on the mUzima application. The World Health Organization (WHO) Principles for Digital Development framework was used as a secondary reference framework. Details of mUzima's architecture, core features, functionalities, and its implementation status are provided to highlight elements that can be adapted in other systems.ResultsmUzima is an open-source, highly configurable Android application with robust features including offline management, deduplication, relationship management, security, cohort management, and error resolution, among many others. mUzima allows providers with lower-end Android smartphones (version 4.4 and above) who work remotely to access historical patient data, collect new data, view media, leverage decision support, conduct store-and-forward teleconsultation, and geolocate clients. The application is supported by an active community of developers and users, with feature priorities vetted by the community. mUzima has been implemented nationally in Kenya, is widely used in Rwanda, and is gaining scale in Uganda and Mozambique. It is disease-agnostic, with current use cases in HIV, cancer, chronic disease, and COVID-19 management, among other conditions. mUzima meets all WHO's Principles of Digital Development, and its scaled implementation success has led to its recognition as a digital global public good and its listing in the WHO Digital Health Atlas.ConclusionsGreater emphasis should be placed on mHealth applications that robustly extend reach of EHR systems within resource-limited settings, as opposed to siloed mHealth applications. This is particularly important given that health information exchange infrastructure is yet to mature in many LMICs. The mUzima application demonstrates how this can be done at scale, as evidenced by its adoption across multiple countries and for numerous care domains.

Project description:BackgroundWith increased specialization of health care services and high levels of patient mobility, accessing health care services across multiple hospitals or clinics has become very common for diagnosis and treatment, particularly for patients with chronic diseases such as cancer. With informed knowledge of a patient's history, physicians can make prompt clinical decisions for smarter, safer, and more efficient care. However, due to the privacy and high sensitivity of electronic health records (EHR), most EHR data sharing still happens through fax or mail due to the lack of systematic infrastructure support for secure, trustable health data sharing, which can also cause major delays in patient care.ObjectiveOur goal was to develop a system that will facilitate secure, trustable management, sharing, and aggregation of EHR data. Our patient-centric system allows patients to manage their own health records across multiple hospitals. The system will ensure patient privacy protection and guarantee security with respect to the requirements for health care data management, including the access control policy specified by the patient.MethodsWe propose a permissioned blockchain-based system for EHR data sharing and integration. Each hospital will provide a blockchain node integrated with its own EHR system to form the blockchain network. A web-based interface will be used for patients and doctors to initiate EHR sharing transactions. We take a hybrid data management approach, where only management metadata will be stored on the chain. Actual EHR data, on the other hand, will be encrypted and stored off-chain in Health Insurance Portability and Accountability Act-compliant cloud-based storage. The system uses public key infrastructure-based asymmetric encryption and digital signatures to secure shared EHR data.ResultsIn collaboration with Stony Brook University Hospital, we developed ACTION-EHR, a system for patient-centric, blockchain-based EHR data sharing and management for patient care, in particular radiation treatment for cancer. The prototype was built on Hyperledger Fabric, an open-source, permissioned blockchain framework. Data sharing transactions were implemented using chaincode and exposed as representational state transfer application programming interfaces used for the web portal for patients and users. The HL7 Fast Healthcare Interoperability Resources standard was adopted to represent shared EHR data, making it easy to interface with hospital EHR systems and integrate a patient's EHR data. We tested the system in a distributed environment at Stony Brook University using deidentified patient data.ConclusionsWe studied and developed the critical technology components to enable patient-centric, blockchain-based EHR sharing to support cancer care. The prototype demonstrated the feasibility of our approach as well as some of the major challenges. The next step will be a pilot study with health care providers in both the United States and Switzerland. Our work provides an exemplar testbed to build next-generation EHR sharing infrastructures.

Dataset Information

Extension of GWAS results for lipid-related phenotypes to extreme obesity using electronic health record (EHR) data and the Metabochip.

Publications

Extension of GWAS results for lipid-related phenotypes to extreme obesity using electronic health record (EHR) data and the Metabochip.

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