Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records.
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ABSTRACT:
SUBMITTER: McDavid A
PROVIDER: S-EPMC3677889 | biostudies-literature | 2013
REPOSITORIES: biostudies-literature
Publications
Enhancing the power of genetic association studies through the use of silver standard cases derived from electronic medical records.
McDavid Andrew A Crane Paul K PK Newton Katherine M KM Crosslin David R DR McCormick Wayne W Weston Noah N Ehrlich Kelly K Hart Eugene E Harrison Robert R Kukull Walter A WA Rottscheit Carla C Peissig Peggy P Stefanski Elisha E McCarty Catherine A CA Zuvich Rebecca Lynn RL Ritchie Marylyn D MD Haines Jonathan L JL Denny Joshua C JC Schellenberg Gerard D GD de Andrade Mariza M Kullo Iftikhar I Li Rongling R Mirel Daniel D Crenshaw Andrew A Bowen James D JD Li Ge G Tsuang Debby D McCurry Susan S Teri Linda L Larson Eric B EB Jarvik Gail P GP Carlson Chris S CS
PloS one 20130610 6
The feasibility of using imperfectly phenotyped "silver standard" samples identified from electronic medical record diagnoses is considered in genetic association studies when these samples might be combined with an existing set of samples phenotyped with a gold standard technique. An analytic expression is derived for the power of a chi-square test of independence using either research-quality case/control samples alone, or augmented with silver standard data. The subset of the parameter space ...[more]
Similar Datasets
Project description:electronic Medical Records & Genomics (eMERGE)
| PRJNA158491 | ENA
Project description:To reduce costs and improve clinical relevance of genetic studies, there has been increasing interest in performing such studies in hospital-based cohorts by linking phenotypes extracted from electronic medical records (EMRs) to genotypes assessed in routinely collected medical samples. A fundamental difficulty in implementing such studies is extracting accurate information about disease outcomes and important clinical covariates from large numbers of EMRs. Recently, numerous algorithms have been developed to infer phenotypes by combining information from multiple structured and unstructured variables extracted from EMRs. Although these algorithms are quite accurate, they typically do not provide perfect classification due to the difficulty in inferring meaning from the text. Some algorithms can produce for each patient a probability that the patient is a disease case. This probability can be thresholded to define case-control status, and this estimated case-control status has been used to replicate known genetic associations in EMR-based studies. However, using the estimated disease status in place of true disease status results in outcome misclassification, which can diminish test power and bias odds ratio estimates. We propose to instead directly model the algorithm-derived probability of being a case. We demonstrate how our approach improves test power and effect estimation in simulation studies, and we describe its performance in a study of rheumatoid arthritis. Our work provides an easily implemented solution to a major practical challenge that arises in the use of EMR data, which can facilitate the use of EMR infrastructure for more powerful, cost-effective, and diverse genetic studies.
| S-EPMC4185241 | biostudies-literature
Project description:ContextEnhanced recovery after surgery (ERAS) aims to improve surgical outcomes by integrating evidence-based practices across preoperative, intraoperative, and postoperative care. Data in electronic medical records (EMRs) provide insight on how ERAS is implemented and its impact on surgical outcomes. Because ERAS is a multimodal pathway provided by multiple physicians and health care providers over time, identifying ERAS cases in EMRs is not a trivial task. To better understand how EMRs can be used to study ERAS, we describe our experience with using current methodologies and the development and rationale of a new method for retrospectively identifying ERAS cases in EMRs.Case descriptionUsing EMR data from surgical departments at the University of North Carolina at Chapel Hill, we first identified ERAS cases using a protocol-based method, using basic information including the date of ERAS implementation, surgical procedure and date, and primary surgeon. We further examined two operational flags in the EMRs, a nursing order and a case request for OR order. Wide variation between the methods compelled us to consult with ERAS surgical staff and explore the EMRs to develop a more refined method for identifying ERAS cases.MethodWe developed a two-step method, with the first step based on the protocol definition and the second step based on an ERAS-specific medication definition. To test our method, we randomly sampled 150 general, gynecological, and urologic surgeries performed between January 1, 2016 and March 30, 2017. Surgical cases were classified as ERAS or not using the protocol definition, nursing order, case request for OR order, and our two-step method. To assess the accuracy of each method, two independent reviewers assessed the charts to determine whether cases were ERAS.FindingsOf the 150 charts reviewed, 74 were ERAS cases. The protocol only method and nursing order flag performed similarly, correctly identifying 74 percent and 73 percent of true ERAS cases, respectively. The case request for OR order flag performed less well, correctly identifying only 44 percent of the true ERAS cases. Our two-step method performed well, correctly identifying 98 percent of true ERAS cases.ConclusionERAS pathways are complex, making study of them from EMRs difficult. Current strategies for doing so are relatively easy to implement, but unreliable. We have developed a reproducible and observable ERAS computational phenotype that identifies ERAS cases reliably. This is a step forward in using the richness of EMR data to study ERAS implementation, efficacy, and how they can contribute to surgical care improvement.
| S-EPMC6662533 | biostudies-literature
Project description:Genome-wide association studies (GWAS) facilitate the discovery of genotype-phenotype relations from population-based sequence databases, which is an integral facet of personalized medicine. The increasing adoption of electronic medical records allows large amounts of patients' standardized clinical features to be combined with the genomic sequences of these patients and shared to support validation of GWAS findings and to enable novel discoveries. However, disseminating these data "as is" may lead to patient reidentification when genomic sequences are linked to resources that contain the corresponding patients' identity information based on standardized clinical features. This work proposes an approach that provably prevents this type of data linkage and furnishes a result that helps support GWAS. Our approach automatically extracts potentially linkable clinical features and modifies them in a way that they can no longer be used to link a genomic sequence to a small number of patients, while preserving the associations between genomic sequences and specific sets of clinical features corresponding to GWAS-related diseases. Extensive experiments with real patient data derived from the Vanderbilt's University Medical Center verify that our approach generates data that eliminate the threat of individual reidentification, while supporting GWAS validation and clinical case analysis tasks.
| S-EPMC2867915 | biostudies-literature
Project description:OBJECTIVE:The use of electronic medical record (EMR) data is necessary to improve clinical research efficiency. However, it is not easy to identify patients who meet research eligibility criteria and collect the necessary information from EMRs because the data collection process must integrate various techniques, including the development of a data warehouse and translation of eligibility criteria into computable criteria. This research aimed to demonstrate an electronic medical records retrieval system (ERS) and an example of a hospital-based cohort study that identified both patients and exposure with an ERS. We also evaluated the feasibility and usefulness of the method. DESIGN:The system was developed and evaluated. PARTICIPANTS:In total, 800 000 cases of clinical information stored in EMRs at our hospital were used. PRIMARY AND SECONDARY OUTCOME MEASURES:The feasibility and usefulness of the ERS, the method to convert text from eligible criteria to computable criteria, and a confirmation method to increase research data accuracy. RESULTS:To comprehensively and efficiently collect information from patients participating in clinical research, we developed an ERS. To create the ERS database, we designed a multidimensional data model optimised for patient identification. We also devised practical methods to translate narrative eligibility criteria into computable parameters. We applied the system to an actual hospital-based cohort study performed at our hospital and converted the test results into computable criteria. Based on this information, we identified eligible patients and extracted data necessary for confirmation by our investigators and for statistical analyses with our ERS. CONCLUSIONS:We propose a pragmatic methodology to identify patients from EMRs who meet clinical research eligibility criteria. Our ERS allowed for the efficient collection of information on the eligibility of a given patient, reduced the labour required from the investigators and improved the reliability of the results.
| S-EPMC3533000 | biostudies-literature
Project description:Electronic medical records (EMRs) are being widely implemented for use in genetic and genomic studies. As a phenotypic rich resource, EMRs provide researchers with the opportunity to identify disease cohorts and perform genotype-phenotype association studies. The Epidemiologic Architecture for Genes Linked to Environment (EAGLE) study, as part of the Population Architecture using Genomics and Epidemiology (PAGE) I study, has genotyped more than 15,000 individuals of diverse genetic ancestry in BioVU, the Vanderbilt University Medical Center's biorepository linked to a de-identified version of the EMR (EAGLE BioVU). Here we develop and deploy an algorithm utilizing data mining techniques to identify primary open-angle glaucoma (POAG) in African Americans from EAGLE BioVU for genetic association studies. The algorithm described here was designed using a combination of diagnostic codes, current procedural terminology billing codes, and free text searches to identify POAG status in situations where gold-standard digital photography cannot be accessed. The case algorithm identified 267 potential POAG subjects but underperformed after manual review with a positive predictive value of 51.6% and an accuracy of 76.3%. The control algorithm identified controls with a negative predictive value of 98.3%. Although the case algorithm requires more downstream manual review for use in large-scale studies, it provides a basis by which to extract a specific clinical subtype of glaucoma from EMRs in the absence of digital photographs.
| S-EPMC4465698 | biostudies-literature
Project description:BACKGROUND:The Canadian Primary Care Sentinel Surveillance Network (CPCSSN) previously carried out a validation study of case definitions for 8 chronic diseases (diabetes mellitus, hypertension, osteoarthritis, depression, dementia, chronic obstructive pulmonary disease, parkinsonism and epilepsy) using direct review of "raw" electronic medical record data. Although effective, this method is time-consuming and can present methodological and organizational challenges. We aimed to determine whether the processed and standardized data contained with the CPCSSN database might function as a reference standard for case definition validation. METHODS:Using a traditional validation study design, we compared the case identification results of the chart reviews for the 8 chronic diseases with the results of a manual review of the CPCSSN processed data for the same conditions in the same patient sample. Patients were randomly sampled from the June 30, 2012 CPCSSN database, with oversampling of patients with rare conditions. RESULTS:We analyzed data for 1906 patients. Manual review of the CPCSSN records for case ascertainment yielded sensitivity ranging from 77.5% (95% confidence interval [CI] 73.3%-81.6%) for depression to 97.2% (95% CI 95.4%-99.0%) for diabetes. Specificity was high for all definitions (range 93.1% [95% CI 91.4%-94.7%] to 99.4% [95% CI 99.0%-99.8%]). Positive predictive values and negative predictive values also showed high accuracy of the manual CPCSSN record review relative to review of the raw chart data. INTERPRETATION:The use of CPCSSN records as the reference standard to validate case definitions substantially reduces the burden on sentinel physicians and clinic managers as well as on researchers while offering a reference standard that is a reasonable substitution for chart review.
| S-EPMC5741416 | biostudies-literature
Project description:Post-market medical device surveillance is a challenge facing manufacturers, regulatory agencies, and health care providers. Electronic health records are valuable sources of real-world evidence for assessing device safety and tracking device-related patient outcomes over time. However, distilling this evidence remains challenging, as information is fractured across clinical notes and structured records. Modern machine learning methods for machine reading promise to unlock increasingly complex information from text, but face barriers due to their reliance on large and expensive hand-labeled training sets. To address these challenges, we developed and validated state-of-the-art deep learning methods that identify patient outcomes from clinical notes without requiring hand-labeled training data. Using hip replacements-one of the most common implantable devices-as a test case, our methods accurately extracted implant details and reports of complications and pain from electronic health records with up to 96.3% precision, 98.5% recall, and 97.4% F1, improved classification performance by 12.8-53.9% over rule-based methods, and detected over six times as many complication events compared to using structured data alone. Using these additional events to assess complication-free survivorship of different implant systems, we found significant variation between implants, including for risk of revision surgery, which could not be detected using coded data alone. Patients with revision surgeries had more hip pain mentions in the post-hip replacement, pre-revision period compared to patients with no evidence of revision surgery (mean hip pain mentions 4.97 vs. 3.23; t?=?5.14; p?<?0.001). Some implant models were associated with higher or lower rates of hip pain mentions. Our methods complement existing surveillance mechanisms by requiring orders of magnitude less hand-labeled training data, offering a scalable solution for national medical device surveillance using electronic health records.
| S-EPMC6761113 | biostudies-literature
Project description:Personalized medicine has largely been enabled by the integration of genomic and other data with electronic health records (EHRs) in the United States and elsewhere. Increased EHR adoption across various clinical settings and the establishment of EHR-linked population-based biobanks provide unprecedented opportunities for the types of translational and implementation research that drive personalized medicine. We review advances in the digitization of health information and the proliferation of genomic research in health systems and provide insights into emerging paths for the widespread implementation of personalized medicine.
| S-EPMC6921466 | biostudies-literature
Project description:OBJECTIVE:The traditional fee-for-service approach to healthcare can lead to the management of a patient's conditions in a siloed manner, inducing various negative consequences. It has been recognized that a bundled approach to healthcare - one that manages a collection of health conditions together - may enable greater efficacy and cost savings. However, it is not always evident which sets of conditions should be managed in a bundled manner. In this study, we investigate if a data-driven approach can automatically learn potential bundles. METHODS:We designed a framework to infer health condition collections (HCCs) based on the similarity of their clinical workflows, according to electronic medical record (EMR) utilization. We evaluated the framework with data from over 16,500 inpatient stays from Northwestern Memorial Hospital in Chicago, Illinois. The plausibility of the inferred HCCs for bundled care was assessed through an online survey of a panel of five experts, whose responses were analyzed via an analysis of variance (ANOVA) at a 95% confidence level. We further assessed the face validity of the HCCs using evidence in the published literature. RESULTS:The framework inferred four HCCs, indicative of (1) fetal abnormalities, (2) late pregnancies, (3) prostate problems, and (4) chronic diseases, with congestive heart failure featuring prominently. Each HCC was substantiated with evidence in the literature and was deemed plausible for bundled care by the experts at a statistically significant level. CONCLUSIONS:The findings suggest that an automated EMR data-driven framework conducted can provide a basis for discovering bundled care opportunities. Still, translating such findings into actual care management will require further refinement, implementation, and evaluation.
| S-EPMC5771885 | biostudies-literature