Dataset Information

Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin.

ABSTRACT: DNA biobanks linked to comprehensive electronic health records systems are potentially powerful resources for pharmacogenetic studies. This study sought to develop natural-language-processing algorithms to extract drug-dose information from clinical text, and to assess the capabilities of such tools to automate the data-extraction process for pharmacogenetic studies.A manually validated warfarin pharmacogenetic study identified a cohort of 1125 patients with a stable warfarin dose, in which 776 patients were managed by Coumadin Clinic physicians, and the remaining 349 patients were managed by their providers. The authors developed two algorithms to extract weekly warfarin doses from both data sets: a regular expression-based program for semistructured Coumadin Clinic notes; and an advanced weekly dose calculator based on an existing medication information extraction system (MedEx) for narrative providers' notes. The authors then conducted an association analysis between an automatically extracted stable weekly dose of warfarin and four genetic variants of VKORC1 and CYP2C9 genes. The performance of the weekly dose-extraction program was evaluated by comparing it with a gold standard containing manually curated weekly doses. Precision, recall, F-measure, and overall accuracy were reported. Associations between known variants in VKORC1 and CYP2C9 and warfarin stable weekly dose were performed with linear regression adjusted for age, gender, and body mass index.The authors' evaluation showed that the MedEx-based system could determine patients' warfarin weekly doses with 99.7% recall, 90.8% precision, and 93.8% accuracy. Using the automatically extracted weekly doses of warfarin, the authors successfully replicated the previous known associations between warfarin stable dose and genetic variants in VKORC1 and CYP2C9.

SUBMITTER: Xu H

PROVIDER: S-EPMC3128409 | biostudies-literature | 2011 Jul-Aug

REPOSITORIES: biostudies-literature

ACCESS DATA

Publications

Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin.

Xu Hua H Jiang Min M Oetjens Matt M Bowton Erica A EA Ramirez Andrea H AH Jeff Janina M JM Basford Melissa A MA Pulley Jill M JM Cowan James D JD Wang Xiaoming X Ritchie Marylyn D MD Masys Daniel R DR Roden Dan M DM Crawford Dana C DC Denny Joshua C JC

Journal of the American Medical Informatics Association : JAMIA 20110701 4

<h4>Objective</h4>DNA biobanks linked to comprehensive electronic health records systems are potentially powerful resources for pharmacogenetic studies. This study sought to develop natural-language-processing algorithms to extract drug-dose information from clinical text, and to assess the capabilities of such tools to automate the data-extraction process for pharmacogenetic studies.<h4>Materials and methods</h4>A manually validated warfarin pharmacogenetic study identified a cohort of 1125 pat ...[more]

PMID: 21672908

Similar Datasets

Project description:BACKGROUND:Falls in hospitals are the most common risk factor that affects the safety of inpatients and can result in severe harm. Therefore, preventing falls is one of the most important areas of risk management for health care organizations. However, existing methods for predicting falls are laborious and costly. OBJECTIVE:The objective of this study is to verify whether hospital inpatient falls can be predicted through the analysis of a single input-unstructured nursing records obtained from Japanese electronic medical records (EMRs)-using a natural language processing (NLP) algorithm and machine learning. METHODS:The nursing records of 335 fallers and 408 nonfallers for a 12-month period were extracted from the EMRs of an acute care hospital and randomly divided into a learning data set and test data set. The former data set was subjected to NLP and machine learning to extract morphemes that contributed to separating fallers from nonfallers to construct a model for predicting falls. Then, the latter data set was used to determine the predictive value of the model using receiver operating characteristic (ROC) analysis. RESULTS:The prediction of falls using the test data set showed high accuracy, with an area under the ROC curve, sensitivity, specificity, and odds ratio of mean 0.834 (SD 0.005), mean 0.769 (SD 0.013), mean 0.785 (SD 0.020), and mean 12.27 (SD 1.11) for five independent experiments, respectively. The morphemes incorporated into the final model included many words closely related to known risk factors for falls, such as the use of psychotropic drugs, state of consciousness, and mobility, thereby demonstrating that an NLP algorithm combined with machine learning can effectively extract risk factors for falls from nursing records. CONCLUSIONS:We successfully established that falls among hospital inpatients can be predicted by analyzing nursing records using an NLP algorithm and machine learning. Therefore, it may be possible to develop a fall risk monitoring system that analyzes nursing records daily and alerts health care professionals when the fall risk of an inpatient is increased.

Project description:BackgroundChronic cough (CC) is difficult to identify in electronic health records (EHRs) due to the lack of specific diagnostic codes. We developed a natural language processing (NLP) model to identify cough in free-text provider notes in EHRs from multiple health care providers with the objective of using the model in a rules-based CC algorithm to identify individuals with CC from EHRs and to describe the demographic and clinical characteristics of individuals with CC.MethodsThis was a retrospective observational study of enrollees in Optum's Integrated Clinical + Claims Database. Participants were 18-85 years of age with medical and pharmacy health insurance coverage between January 2016 and March 2017. A labeled reference standard data set was constructed by manually annotating 1000 randomly selected provider notes from the EHRs of enrollees with ≥ 1 cough mention. An NLP model was developed to extract positive or negated cough contexts. NLP, cough diagnosis and medications identified cough encounters. Patients with ≥ 3 encounters spanning at least 56 days within 120 days were defined as having CC.ResultsThe positive predictive value and sensitivity of the NLP algorithm were 0.96 and 0.68, respectively, for positive cough contexts, and 0.96 and 0.84, respectively, for negated cough contexts. Among the 4818 individuals identified as having CC, 37% were identified using NLP-identified cough mentions in provider notes alone, 16% by diagnosis codes and/or written medication orders, and 47% through a combination of provider notes and diagnosis codes/medications. Chronic cough patients were, on average, 61.0 years and 67.0% were female. The most prevalent comorbidities were respiratory infections (75%) and other lower respiratory disease (82%).ConclusionsOur EHR-based algorithm integrating NLP methodology with structured fields was able to identify a CC population. Machine learning based approaches can therefore aid in patient selection for future CC research studies.

Project description:BackgroundSelf-harm occurring within pregnancy and the postnatal year ("perinatal self-harm") is a clinically important yet under-researched topic. Current research likely under-estimates prevalence due to methodological limitations. Electronic healthcare records (EHRs) provide a source of clinically rich data on perinatal self-harm.Aims(1) To create a Natural Language Processing (NLP) tool that can, with acceptable precision and recall, identify mentions of acts of perinatal self-harm within EHRs. (2) To use this tool to identify service-users who have self-harmed perinatally, based on their EHRs.MethodsWe used the Clinical Record Interactive Search system to extract de-identified EHRs of secondary mental healthcare service-users at South London and Maudsley NHS Foundation Trust. We developed a tool that applied several layers of linguistic processing based on the spaCy NLP library for Python. We evaluated mention-level performance in the following domains: span, status, temporality and polarity. Evaluation was done against a manually coded reference standard. Mention-level performance was reported as precision, recall, F-score and Cohen's kappa for each domain. Performance was also assessed at 'service-user' level and explored whether a heuristic rule improved this. We report per-class statistics for service-user performance, as well as likelihood ratios and post-test probabilities.ResultsMention-level performance: micro-averaged F-score, precision and recall for span, polarity and temporality >0.8. Kappa for status 0.68, temporality 0.62, polarity 0.91. Service-user level performance with heuristic: F-score, precision, recall of minority class 0.69, macro-averaged F-score 0.81, positive LR 9.4 (4.8-19), post-test probability 69.0% (53-82%). Considering the task difficulty, the tool performs well, although temporality was the attribute with the lowest level of annotator agreement.ConclusionsIt is feasible to develop an NLP tool that identifies, with acceptable validity, mentions of perinatal self-harm within EHRs, although with limitations regarding temporality. Using a heuristic rule, it can also function at a service-user-level.

Project description:Child physical abuse is a leading cause of traumatic injury and death in children. In 2017, child abuse was responsible for 1688 fatalities in the United States, of 3.5 million children referred to Child Protection Services and 674,000 substantiated victims. While large referral hospitals maintain teams trained in Child Abuse Pediatrics, smaller community hospitals often do not have such dedicated resources to evaluate patients for potential abuse. Moreover, identification of abuse has a low margin of error, as false positive identifications lead to unwarranted separations, while false negatives allow dangerous situations to continue. This context makes the consistent detection of and response to abuse difficult, particularly given subtle signs in young, non-verbal patients. Here, we describe the development of artificial intelligence algorithms that use unstructured free-text in the electronic medical record-including notes from physicians, nurses, and social workers-to identify children who are suspected victims of physical abuse. Importantly, only the notes from time of first encounter (e.g.: birth, routine visit, sickness) to the last record before child protection team involvement were used. This allowed us to develop an algorithm using only information available prior to referral to the specialized child protection team. The study was performed in a multi-center referral pediatric hospital on patients screened for abuse within five different locations between 2015 and 2019. Of 1123 patients, 867 records were available after data cleaning and processing, and 55% were abuse-positive as determined by a multi-disciplinary team of clinical professionals. These electronic medical records were encoded with three natural language processing (NLP) algorithms-Bag of Words (BOW), Word Embeddings (WE), and Rules-Based (RB)-and used to train multiple neural network architectures. The BOW and WE encodings utilize the full free-text, while RB selects crucial phrases as identified by physicians. The best architecture was selected by average classification accuracy for the best performing model from each train-test split of a cross-validation experiment. Natural language processing coupled with neural networks detected cases of likely child abuse using only information available to clinicians prior to child protection team referral with average accuracy of 0.90±0.02 and average area under the receiver operator characteristic curve (ROC-AUC) 0.93±0.02 for the best performing Bag of Words models. The best performing rules-based models achieved average accuracy of 0.77±0.04 and average ROC-AUC 0.81±0.05, while a Word Embeddings strategy was severely limited by lack of representative embeddings. Importantly, the best performing model had a false positive rate of 8%, as compared to rates of 20% or higher in previously reported studies. This artificial intelligence approach can help screen patients for whom an abuse concern exists and streamline the identification of patients who may benefit from referral to a child protection team. Furthermore, this approach could be applied to develop computer-aided-diagnosis platforms for the challenging and often intractable problem of reliably identifying pediatric patients suffering from physical abuse.

Dataset Information

Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin.

Publications

Facilitating pharmacogenetic studies using electronic health records and natural-language processing: a case study of warfarin.

Similar Datasets

OmicsDI is part of the ELIXIR infrastructure