Dataset Information

Integration of genetic and clinical information to improve imputation of data missing from electronic health records.

ABSTRACT: OBJECTIVE:Clinical data of patients' measurements and treatment history stored in electronic health record (EHR) systems are starting to be mined for better treatment options and disease associations. A primary challenge associated with utilizing EHR data is the considerable amount of missing data. Failure to address this issue can introduce significant bias in EHR-based research. Currently, imputation methods rely on correlations among the structured phenotype variables in the EHR. However, genetic studies have shown that many EHR-based phenotypes have a heritable component, suggesting that measured genetic variants might be useful for imputing missing data. In this article, we developed a computational model that incorporates patients' genetic information to perform EHR data imputation. MATERIALS AND METHODS:We used the individual single nucleotide polymorphism's association with phenotype variables in the EHR as input to construct a genetic risk score that quantifies the genetic contribution to the phenotype. Multiple approaches to constructing the genetic risk score were evaluated for optimal performance. The genetic score, along with phenotype correlation, is then used as a predictor to impute the missing values. RESULTS:To demonstrate the method performance, we applied our model to impute missing cardiovascular related measurements including low-density lipoprotein, heart failure, and aortic aneurysm disease in the electronic Medical Records and Genomics data. The integration method improved imputation's area-under-the-curve for binary phenotypes and decreased root-mean-square error for continuous phenotypes. CONCLUSION:Compared with standard imputation approaches, incorporating genetic information offers a novel approach that can utilize more of the EHR data for better performance in missing data imputation.

SUBMITTER: Li R

PROVIDER: S-EPMC6748821 | biostudies-literature | 2019 Oct

REPOSITORIES: biostudies-literature

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Integration of genetic and clinical information to improve imputation of data missing from electronic health records.

Li Ruowang R Chen Yong Y Moore Jason H JH

Journal of the American Medical Informatics Association : JAMIA 20191001 10

<h4>Objective</h4>Clinical data of patients' measurements and treatment history stored in electronic health record (EHR) systems are starting to be mined for better treatment options and disease associations. A primary challenge associated with utilizing EHR data is the considerable amount of missing data. Failure to address this issue can introduce significant bias in EHR-based research. Currently, imputation methods rely on correlations among the structured phenotype variables in the EHR. Howe ...[more]

PMID: 31329892

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Project description:BackgroundAs the availability of interoperable electronic health records (iEHRs) or health information exchanges (HIEs) continues to increase, there is greater need and opportunity to assess the current evidence base on what works and what does not regarding the adoption, use, and impact of iEHRs.ObjectiveThe purpose of this project is to assess the international evidence base on the adoption, use, and impact of iEHRs.MethodsWe conducted a systematic review, searching multiple databases-MEDLINE, Embase, and the Cumulative Index to Nursing and Allied Health Literature (CINAHL)-with supplemental searches conducted in Google Scholar and grey literature sources (ie, Google, Grey Literature Report, and OpenGrey). All searches were conducted in January and February 2017. Articles were eligible for inclusion if they were published in English, were published from 2006 to 2017, and were either an original research study or a literature review. In order to be included, articles needed to focus on iEHRs and HIEs across multiple health care settings, as well as on the impact and effectiveness of iEHR adoption and use.ResultsWe included 130 articles in the synthesis (113 primary studies, 86.9%; 17 reviews, 13.1%), with the majority focused on the United States (88/130, 67.7%). The primary studies focused on a wide range of health care settings; the three most prevalent settings studied included acute care (59/113, 52.2%), primary care (44/113, 38.9%), and emergency departments (34/113, 30.1%). We identified 29 distinct measurement items in the 113 primary studies that were linked to 522 specific measurement outcomes. Productivity and quality were the two evaluation dimensions that received the most attention, accounting for 14 of 29 (48%) measurement items and 306 of 522 (58.6%) measurement outcomes identified. Overall, the majority of the 522 measurement outcomes were positive (298/522, 57.1%). We also identified 17 reviews on iEHR use and impact, 6 (35%) that focused on barriers and facilitators to adoption and implementation and 11 (65%) that focused on benefits and impacts, with the more recent reviews finding little generalizable evidence of benefit and impact.ConclusionsThis review captures the status of an evolving and active field focused on the use and impact of iEHRs. While the overall findings suggest many positive impacts, the quality of the primary studies were not evaluated systematically. When broken down by specific measurement item, the results directed attention both to measurement outcomes that were consistently positive and others that were mostly negative or equivocal.

Dataset Information

Integration of genetic and clinical information to improve imputation of data missing from electronic health records.

Publications

Integration of genetic and clinical information to improve imputation of data missing from electronic health records.

Similar Datasets

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