Performance of a computable phenotype for pediatric asthma using the problem list.
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ABSTRACT:
SUBMITTER: Tang M
PROVIDER: S-EPMC7606382 | biostudies-literature |
REPOSITORIES: biostudies-literature
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Project description:BackgroundExtensive data available in electronic health records (EHRs) have the potential to improve asthma care and understanding of factors influencing asthma outcomes. However, this work can be accomplished only when the EHR data allow for accurate measures of severity, which at present are complex and inconsistent.ObjectiveOur aims were to create and evaluate a standardized pediatric asthma severity phenotype based in clinical asthma guidelines for use in EHR-based health initiatives and studies and also to examine the presence and absence of these data in relation to patient characteristics.MethodsWe developed an asthma severity computable phenotype and compared the concordance of different severity components contributing to the phenotype to trends in the literature. We used multivariable logistic regression to assess the presence of EHR data relevant to asthma severity.ResultsThe asthma severity computable phenotype performs as expected in comparison with national statistics and the literature. Severity classification for a child is maximized when based on the long-term medication regimen component and minimized when based only on the symptom data component. Use of the severity phenotype results in better, clinically grounded classification. Children for whom severity could be ascertained from these EHR data were more likely to be seen for asthma in the outpatient setting and less likely to be older or Hispanic. Black children were less likely to have lung function testing data present.ConclusionWe developed a pragmatic computable phenotype for pediatric asthma severity that is transportable to other EHRs.
| S-EPMC8328264 | biostudies-literature
Project description:ObjectivesAsthma is a heterogenous condition with significant diagnostic complexity, including variations in symptoms and temporal criteria. The disease can be difficult for clinicians to diagnose accurately. Properly identifying asthma patients from the electronic health record is consequently challenging as current algorithms (computable phenotypes) rely on diagnostic codes (e.g., International Classification of Disease, ICD) in addition to other criteria (e.g., inhaler medications)-but presume an accurate diagnosis. As such, there is no universally accepted or rigorously tested computable phenotype for asthma.MethodsWe compared two established asthma computable phenotypes: the Chicago Area Patient-Outcomes Research Network (CAPriCORN) and Phenotype KnowledgeBase (PheKB). We established a large-scale, consensus gold standard (n = 1,365) from the University of California, Los Angeles Health System's clinical data warehouse for patients 5 to 17 years old. Results were manually reviewed and predictive performance (positive predictive value [PPV], sensitivity/specificity, F1-score) determined. We then examined the classification errors to gain insight for future algorithm optimizations.ResultsAs applied to our final cohort of 1,365 expert-defined gold standard patients, the CAPriCORN algorithms performed with a balanced PPV = 95.8% (95% CI: 94.4-97.2%), sensitivity = 85.7% (95% CI: 83.9-87.5%), and harmonized F1 = 90.4% (95% CI: 89.2-91.7%). The PheKB algorithm was performed with a balanced PPV = 83.1% (95% CI: 80.5-85.7%), sensitivity = 69.4% (95% CI: 66.3-72.5%), and F1 = 75.4% (95% CI: 73.1-77.8%). Four categories of errors were identified related to method limitations, disease definition, human error, and design implementation.ConclusionThe performance of the CAPriCORN and PheKB algorithms was lower than previously reported as applied to pediatric data (PPV = 97.7 and 96%, respectively). There is room to improve the performance of current methods, including targeted use of natural language processing and clinical feature engineering.
| S-EPMC9113735 | biostudies-literature
Project description:ObjectivesTo compare registry and electronic health record (EHR) data mining approaches for cohort ascertainment in patients with pediatric pulmonary hypertension (PH) in an effort to overcome some of the limitations of registry enrollment alone in identifying patients with particular disease phenotypes.Study designThis study was a single-center retrospective analysis of EHR and registry data at Boston Children's Hospital. The local Informatics for Integrating Biology and the Bedside (i2b2) data warehouse was queried for billing codes, prescriptions, and narrative data related to pediatric PH. Computable phenotype algorithms were developed by fitting penalized logistic regression models to a physician-annotated training set. Algorithms were applied to a candidate patient cohort, and performance was evaluated using a separate set of 136 records and 179 registry patients. We compared clinical and demographic characteristics of patients identified by computable phenotype and the registry.ResultsThe computable phenotype had an area under the receiver operating characteristics curve of 90% (95% CI, 85%-95%), a positive predictive value of 85% (95% CI, 77%-93%), and identified 413 patients (an additional 231%) with pediatric PH who were not enrolled in the registry. Patients identified by the computable phenotype were clinically distinct from registry patients, with a greater prevalence of diagnoses related to perinatal distress and left heart disease.ConclusionsMining of EHRs using computable phenotypes identified a large cohort of patients not recruited using a classic registry. Fusion of EHR and registry data can improve cohort ascertainment for the study of rare diseases.Trial registrationClinicalTrials.gov: NCT02249923.
| S-EPMC5572538 | biostudies-literature
Project description:BackgroundThe medical problem list is an important part of the electronic medical record in development in our institution. To serve the functions it is designed for, the problem list has to be as accurate and timely as possible. However, the current problem list is usually incomplete and inaccurate, and is often totally unused. To alleviate this issue, we are building an environment where the problem list can be easily and effectively maintained.MethodsFor this project, 80 medical problems were selected for their frequency of use in our future clinical field of evaluation (cardiovascular). We have developed an Automated Problem List system composed of two main components: a background and a foreground application. The background application uses Natural Language Processing (NLP) to harvest potential problem list entries from the list of 80 targeted problems detected in the multiple free-text electronic documents available in our electronic medical record. These proposed medical problems drive the foreground application designed for management of the problem list. Within this application, the extracted problems are proposed to the physicians for addition to the official problem list.ResultsThe set of 80 targeted medical problems selected for this project covered about 5% of all possible diagnoses coded in ICD-9-CM in our study population (cardiovascular adult inpatients), but about 64% of all instances of these coded diagnoses. The system contains algorithms to detect first document sections, then sentences within these sections, and finally potential problems within the sentences. The initial evaluation of the section and sentence detection algorithms demonstrated a sensitivity and positive predictive value of 100% when detecting sections, and a sensitivity of 89% and a positive predictive value of 94% when detecting sentences.ConclusionThe global aim of our project is to automate the process of creating and maintaining a problem list for hospitalized patients and thereby help to guarantee the timeliness, accuracy and completeness of this information.
| S-EPMC1208893 | biostudies-literature
Project description:Objective: Comprehensive, rapid, and accurate identification of patients with asthma for clinical care and engagement in research efforts is needed. The original development and validation of a computable phenotype for asthma case identification occurred at a single institution in Chicago and demonstrated excellent test characteristics. However, its application in a diverse payer mix, across different health systems and multiple electronic health record vendors, and in both children and adults was not examined. The objective of this study is to externally validate the computable phenotype across diverse Chicago institutions to accurately identify pediatric and adult patients with asthma. Methods: A cohort of 900 asthma and control patients was identified from the electronic health record between January 1, 2012 and November 30, 2014. Two physicians at each site independently reviewed the patient chart to annotate cases. Results: The inter-observer reliability between the physician reviewers had a ?-coefficient of 0.95 (95% CI 0.93-0.97). The accuracy, sensitivity, specificity, negative predictive value, and positive predictive value of the computable phenotype were all above 94% in the full cohort. Conclusions: The excellent positive and negative predictive values in this multi-center external validation study establish a useful tool to identify asthma cases in in the electronic health record for research and care. This computable phenotype could be used in large-scale comparative-effectiveness trials.
| S-EPMC6203662 | biostudies-literature
Project description:A patient's medical problem list describes his or her current health status and aids in the coordination and transfer of care between providers. Because a problem list is generated once and then subsequently modified or updated, what is not usually observable is the provider-effect. That is, to what extent does a patient's problem in the electronic medical record actually reflect a consensus communication of that patient's current health status? To that end, we report on and analyze a unique interview-based design in which multiple medical providers independently generate problem lists for each of three patient case abstracts of varying clinical difficulty. Due to the uniqueness of both our data and the scientific objectives of our analysis, we apply and extend so-called multistage models for ordered lists and equip the models with variable selection penalties to induce sparsity. Each problem has a corresponding non-negative parameter estimate, interpreted as a relative log-odds ratio, with larger values suggesting greater importance and zero values suggesting unimportant problems. We use these fitted penalized models to quantify and report the extent of consensus. We conduct a simulation study to evaluate the performance of our methodology and then analyze the motivating problem list data. For the three case abstracts, the proportions of problems with model-estimated non-zero log-odds ratios were 10/28, 16/47, and 13/30. Physicians exhibited consensus on the highest ranked problems in the first and last case abstracts but agreement quickly deteriorated; in contrast, physicians broadly disagreed on the relevant problems for the middle - and most difficult - case abstract.
| S-EPMC8345315 | biostudies-literature
Project description: Not available
| S-EPMC6469868 | biostudies-literature
Project description:BackgroundPrimary nephrotic syndromes are rare diseases which can impede adequate sample size for observational patient-oriented research and clinical trial enrollment. A computable phenotype may be powerful in identifying patients with these diseases for research across multiple institutions.MethodsA comprehensive algorithm of inclusion and exclusion ICD-9 and ICD-10 codes to identify patients with primary nephrotic syndrome was developed. The algorithm was executed against the PCORnet CDM at three institutions from January 1, 2009 to January 1, 2018, where a random selection of 50 cases and 50 noncases (individuals not meeting case criteria seen within the same calendar year and within 5 years of age of a case) were reviewed by a nephrologist, for a total of 150 cases and 150 noncases reviewed. The classification accuracy (sensitivity, specificity, positive and negative predictive value, F1 score) of the computable phenotype was determined.ResultsThe algorithm identified a total of 2708 patients with nephrotic syndrome from 4,305,092 distinct patients in the CDM at all sites from 2009 to 2018. For all sites, the sensitivity, specificity, and area under the curve of the algorithm were 99% (95% CI, 97% to 99%), 79% (95% CI, 74% to 85%), and 0.9 (0.84 to 0.97), respectively. The most common causes of false positive classification were secondary FSGS (nine out of 39) and lupus nephritis (nine out of 39).ConclusionThis computable phenotype had good classification in identifying both children and adults with primary nephrotic syndrome utilizing only ICD-9 and ICD-10 codes, which are available across institutions in the United States. This may facilitate future screening and enrollment for research studies and enable comparative effectiveness research. Further refinements to the algorithm including use of laboratory data or addition of natural language processing may help better distinguish primary and secondary causes of nephrotic syndrome.
| S-EPMC8986057 | biostudies-literature
Project description:ObjectivesTo develop and evaluate the classification accuracy of a computable phenotype for pediatric Crohn's disease using electronic health record data from PEDSnet, a large, multi-institutional research network and Learning Health System.Study designUsing clinician and informatician input, algorithms were developed using combinations of diagnostic and medication data drawn from the PEDSnet clinical dataset which is comprised of 5.6 million children from eight U.S. academic children's health systems. Six test algorithms (four cases, two non-cases) that combined use of specific medications for Crohn's disease plus the presence of Crohn's diagnosis were initially tested against the entire PEDSnet dataset. From these, three were selected for performance assessment using manual chart review (primary case algorithm, n = 360, primary non-case algorithm, n = 360, and alternative case algorithm, n = 80). Non-cases were patients having gastrointestinal diagnoses other than inflammatory bowel disease. Sensitivity, specificity, and positive predictive value (PPV) were assessed for the primary case and primary non-case algorithms.ResultsOf the six algorithms tested, the least restrictive algorithm requiring just ≥1 Crohn's diagnosis code yielded 11 950 cases across PEDSnet (prevalence 21/10 000). The most restrictive algorithm requiring ≥3 Crohn's disease diagnoses plus at least one medication yielded 7868 patients (prevalence 14/10 000). The most restrictive algorithm had the highest PPV (95%) and high sensitivity (91%) and specificity (94%). False positives were due primarily to a diagnosis reversal (from Crohn's disease to ulcerative colitis) or having a diagnosis of "indeterminate colitis." False negatives were rare.ConclusionsUsing diagnosis codes and medications available from PEDSnet, we developed a computable phenotype for pediatric Crohn's disease that had high specificity, sensitivity and predictive value. This process will be of use for developing computable phenotypes for other pediatric diseases, to facilitate cohort identification for retrospective and prospective studies, and to optimize clinical care through the PEDSnet Learning Health System.
| S-EPMC7556434 | biostudies-literature
Project description:BackgroundThe ability to search for and precisely compare similar phenotypic appearances within and across species has vast potential in plant science and genetic research. The difficulty in doing so lies in the fact that many visual phenotypic data, especially visually observed phenotypes that often times cannot be directly measured quantitatively, are in the form of text annotations, and these descriptions are plagued by semantic ambiguity, heterogeneity, and low granularity. Though several bio-ontologies have been developed to standardize phenotypic (and genotypic) information and permit comparisons across species, these semantic issues persist and prevent precise analysis and retrieval of information. A framework suitable for the modeling and analysis of precise computable representations of such phenotypic appearances is needed.ResultsWe have developed a new framework called the Computable Visually Observed Phenotype Ontological Framework for plants. This work provides a novel quantitative view of descriptions of plant phenotypes that leverages existing bio-ontologies and utilizes a computational approach to capture and represent domain knowledge in a machine-interpretable form. This is accomplished by means of a robust and accurate semantic mapping module that automatically maps high-level semantics to low-level measurements computed from phenotype imagery. The framework was applied to two different plant species with semantic rules mined and an ontology constructed. Rule quality was evaluated and showed high quality rules for most semantics. This framework also facilitates automatic annotation of phenotype images and can be adopted by different plant communities to aid in their research.ConclusionsThe Computable Visually Observed Phenotype Ontological Framework for plants has been developed for more efficient and accurate management of visually observed phenotypes, which play a significant role in plant genomics research. The uniqueness of this framework is its ability to bridge the knowledge of informaticians and plant science researchers by translating descriptions of visually observed phenotypes into standardized, machine-understandable representations, thus enabling the development of advanced information retrieval and phenotype annotation analysis tools for the plant science community.
| S-EPMC3149582 | biostudies-literature