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Chapter 13: Mining electronic health records in the genomics era.

ABSTRACT: The combination of improved genomic analysis methods, decreasing genotyping costs, and increasing computing resources has led to an explosion of clinical genomic knowledge in the last decade. Similarly, healthcare systems are increasingly adopting robust electronic health record (EHR) systems that not only can improve health care, but also contain a vast repository of disease and treatment data that could be mined for genomic research. Indeed, institutions are creating EHR-linked DNA biobanks to enable genomic and pharmacogenomic research, using EHR data for phenotypic information. However, EHRs are designed primarily for clinical care, not research, so reuse of clinical EHR data for research purposes can be challenging. Difficulties in use of EHR data include: data availability, missing data, incorrect data, and vast quantities of unstructured narrative text data. Structured information includes billing codes, most laboratory reports, and other variables such as physiologic measurements and demographic information. Significant information, however, remains locked within EHR narrative text documents, including clinical notes and certain categories of test results, such as pathology and radiology reports. For relatively rare observations, combinations of simple free-text searches and billing codes may prove adequate when followed by manual chart review. However, to extract the large cohorts necessary for genome-wide association studies, natural language processing methods to process narrative text data may be needed. Combinations of structured and unstructured textual data can be mined to generate high-validity collections of cases and controls for a given condition. Once high-quality cases and controls are identified, EHR-derived cases can be used for genomic discovery and validation. Since EHR data includes a broad sampling of clinically-relevant phenotypic information, it may enable multiple genomic investigations upon a single set of genotyped individuals. This chapter reviews several examples of phenotype extraction and their application to genetic research, demonstrating a viable future for genomic discovery using EHR-linked data.

SUBMITTER: Denny JC

PROVIDER: S-EPMC3531280 | biostudies-literature | 2012

REPOSITORIES: biostudies-literature

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Chapter 13: Mining electronic health records in the genomics era.

Denny Joshua C JC

PLoS computational biology 20121227 12

The combination of improved genomic analysis methods, decreasing genotyping costs, and increasing computing resources has led to an explosion of clinical genomic knowledge in the last decade. Similarly, healthcare systems are increasingly adopting robust electronic health record (EHR) systems that not only can improve health care, but also contain a vast repository of disease and treatment data that could be mined for genomic research. Indeed, institutions are creating EHR-linked DNA biobanks to ...[more]

PMID: 23300414

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Project description:Korian is a private group specializing in medical accommodations for elderly and dependent people. A professional data warehouse (DWH) established in 2010 hosts all of the residents' data. Inside this information system (IS), clinical narratives (CNs) were used only by medical staff as a residents' care linking tool. The objective of this study was to show that, through qualitative and quantitative textual analysis of a relatively small physiotherapy and well-defined CN sample, it was possible to build a physiotherapy corpus and, through this process, generate a new body of knowledge by adding relevant information to describe the residents' care and lives.Meaningful words were extracted through Standard Query Language (SQL) with the LIKE function and wildcards to perform pattern matching, followed by text mining and a word cloud using R® packages. Another step involved principal components and multiple correspondence analyses, plus clustering on the same residents' sample as well as on other health data using a health model measuring the residents' care level needs.By combining these techniques, physiotherapy treatments could be characterized by a list of constructed keywords, and the residents' health characteristics were built. Feeding defects or health outlier groups could be detected, physiotherapy residents' data and their health data were matched, and differences in health situations showed qualitative and quantitative differences in physiotherapy narratives.This textual experiment using a textual process in two stages showed that text mining and data mining techniques provide convenient tools to improve residents' health and quality of care by adding new, simple, useable data to the electronic health record (EHR). When used with a normalized physiotherapy problem list, text mining through information extraction (IE), named entity recognition (NER) and data mining (DM) can provide a real advantage to describe health care, adding new medical material and helping to integrate the EHR system into the health staff work environment.

Project description:BackgroundSevere drug hypersensitivity reactions (DHRs) refer to allergic reactions caused by drugs and usually present with severe skin rashes and internal damage as the main symptoms. Reporting of severe DHRs in hospitals now solely occurs through spontaneous reporting systems (SRSs), which clinicians in charge operate. An automatic identification system scrutinizes clinical notes and reports potential severe DHR cases.ObjectiveThe goal of the research was to develop an automatic identification system for mining severe DHR cases and discover more DHR cases for further study. The proposed method was applied to 9 years of data in pediatrics electronic health records (EHRs) of Beijing Children's Hospital.MethodsThe phenotyping task was approached as a document classification problem. A DHR dataset containing tagged documents for training was prepared. Each document contains all the clinical notes generated during 1 inpatient visit in this data set. Document-level tags correspond to DHR types and a negative category. Strategies were evaluated for long document classification on the openly available National NLP Clinical Challenges 2016 smoking task. Four strategies were evaluated in this work: document truncation, hierarchy representation, efficient self-attention, and key sentence selection. In-domain and open-domain pretrained embeddings were evaluated on the DHR dataset. An automatic grid search was performed to tune statistical classifiers for the best performance over the transformed data. Inference efficiency and memory requirements of the best performing models were analyzed. The most efficient model for mining DHR cases from millions of documents in the EHR system was run.ResultsFor long document classification, key sentence selection with guideline keywords achieved the best performance and was 9 times faster than hierarchy representation models for inference. The best model discovered 1155 DHR cases in Beijing Children's Hospital EHR system. After double-checking by clinician experts, 357 cases of severe DHRs were finally identified. For the smoking challenge, our model reached the record of state-of-the-art performance (94.1% vs 94.2%).ConclusionsThe proposed method discovered 357 positive DHR cases from a large archive of EHR records, about 90% of which were missed by SRSs. SRSs reported only 36 cases during the same period. The case analysis also found more suspected drugs associated with severe DHRs in pediatrics.

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Chapter 13: Mining electronic health records in the genomics era.

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Chapter 13: Mining electronic health records in the genomics era.

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