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Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.

ABSTRACT: To compare three groupings of Electronic Health Record (EHR) billing codes for their ability to represent clinically meaningful phenotypes and to replicate known genetic associations. The three tested coding systems were the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes, the Agency for Healthcare Research and Quality Clinical Classification Software for ICD-9-CM (CCS), and manually curated "phecodes" designed to facilitate phenome-wide association studies (PheWAS) in EHRs.We selected 100 disease phenotypes and compared the ability of each coding system to accurately represent them without performing additional groupings. The 100 phenotypes included 25 randomly-chosen clinical phenotypes pursued in prior genome-wide association studies (GWAS) and another 75 common disease phenotypes mentioned across free-text problem lists from 189,289 individuals. We then evaluated the performance of each coding system to replicate known associations for 440 SNP-phenotype pairs.Out of the 100 tested clinical phenotypes, phecodes exactly matched 83, compared to 53 for ICD-9-CM and 32 for CCS. ICD-9-CM codes were typically too detailed (requiring custom groupings) while CCS codes were often not granular enough. Among 440 tested known SNP-phenotype associations, use of phecodes replicated 153 SNP-phenotype pairs compared to 143 for ICD-9-CM and 139 for CCS. Phecodes also generally produced stronger odds ratios and lower p-values for known associations than ICD-9-CM and CCS. Finally, evaluation of several SNPs via PheWAS identified novel potential signals, some seen in only using the phecode approach. Among them, rs7318369 in PEPD was associated with gastrointestinal hemorrhage.Our results suggest that the phecode groupings better align with clinical diseases mentioned in clinical practice or for genomic studies. ICD-9-CM, CCS, and phecode groupings all worked for PheWAS-type studies, though the phecode groupings produced superior results.

SUBMITTER: Wei WQ

PROVIDER: S-EPMC5501393 | biostudies-literature | 2017

REPOSITORIES: biostudies-literature

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Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.

Wei Wei-Qi WQ Bastarache Lisa A LA Carroll Robert J RJ Marlo Joy E JE Osterman Travis J TJ Gamazon Eric R ER Cox Nancy J NJ Roden Dan M DM Denny Joshua C JC

PloS one 20170707 7

<h4>Objective</h4>To compare three groupings of Electronic Health Record (EHR) billing codes for their ability to represent clinically meaningful phenotypes and to replicate known genetic associations. The three tested coding systems were the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes, the Agency for Healthcare Research and Quality Clinical Classification Software for ICD-9-CM (CCS), and manually curated "phecodes" designed to facilitate phen ...[more]

PMID: 28686612

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Project description:BACKGROUND:The phecode system was built upon the International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) for phenome-wide association studies (PheWAS) using the electronic health record (EHR). OBJECTIVE:The goal of this paper was to develop and perform an initial evaluation of maps from the International Classification of Diseases, 10th Revision (ICD-10) and the International Classification of Diseases, 10th Revision, Clinical Modification (ICD-10-CM) codes to phecodes. METHODS:We mapped ICD-10 and ICD-10-CM codes to phecodes using a number of methods and resources, such as concept relationships and explicit mappings from the Centers for Medicare & Medicaid Services, the Unified Medical Language System, Observational Health Data Sciences and Informatics, Systematized Nomenclature of Medicine-Clinical Terms, and the National Library of Medicine. We assessed the coverage of the maps in two databases: Vanderbilt University Medical Center (VUMC) using ICD-10-CM and the UK Biobank (UKBB) using ICD-10. We assessed the fidelity of the ICD-10-CM map in comparison to the gold-standard ICD-9-CM phecode map by investigating phenotype reproducibility and conducting a PheWAS. RESULTS:We mapped >75% of ICD-10 and ICD-10-CM codes to phecodes. Of the unique codes observed in the UKBB (ICD-10) and VUMC (ICD-10-CM) cohorts, >90% were mapped to phecodes. We observed 70-75% reproducibility for chronic diseases and <10% for an acute disease for phenotypes sourced from the ICD-10-CM phecode map. Using the ICD-9-CM and ICD-10-CM maps, we conducted a PheWAS with a Lipoprotein(a) genetic variant, rs10455872, which replicated two known genotype-phenotype associations with similar effect sizes: coronary atherosclerosis (ICD-9-CM: P<.001; odds ratio (OR) 1.60 [95% CI 1.43-1.80] vs ICD-10-CM: P<.001; OR 1.60 [95% CI 1.43-1.80]) and chronic ischemic heart disease (ICD-9-CM: P<.001; OR 1.56 [95% CI 1.35-1.79] vs ICD-10-CM: P<.001; OR 1.47 [95% CI 1.22-1.77]). CONCLUSIONS:This study introduces the beta versions of ICD-10 and ICD-10-CM to phecode maps that enable researchers to leverage accumulated ICD-10 and ICD-10-CM data for PheWAS in the EHR.

Project description:Background:The International Classification of Diseases, Ninth Edition, Clinical Modification (ICD-9-CM) Injury Severity Score (ICISS) is a risk adjustment model when injuries are recorded using ICD-9-CM coding. The trauma mortality prediction model (TMPM-ICD9) provides better calibration and discrimination compared with ICISS and injury severity score (ISS). Though TMPM-ICD9 is statistically rigorous, it is not precise enough mathematically and has the tendency to overestimate injury severity. The purpose of this study is to develop a new ICD-10-CM injury model which estimates injury severities for every injury in the ICD-10-CM lexicon by a combination of rigorous statistical probit models and mathematical properties and improves the prediction accuracy. Methods:We developed an injury mortality prediction (IMP-ICDX) using data of 794,098 patients admitted to 738 hospitals in the National Trauma Data Bank from 2015 to 2016. Empiric measures of severity for each of the trauma ICD-10-CM codes were estimated using a weighted median death probability (WMDP) measurement and then used as the basis for IMP-ICDX. ISS (version 2005) and the single worst injury (SWI) model were re-estimated. The performance of each of these models was compared by using the area under the receiver operating characteristic (AUC), the Hosmer-Lemeshow (HL) statistic, and the Akaike information criterion statistic. Results:IMP-ICDX exhibits significantly better discrimination (AUCIMP-ICDX, 0.893, and 95% confidence interval (CI), 0.887 to 0.898; AUCISS, 0.853, and 95% CI, 0.846 to 0.860; and AUCSWI, 0.886, and 95% CI, 0.881 to 0.892) and calibration (HLIMP-ICDX, 68, and 95% CI, 36 to 98; HLISS, 252, and 95% CI, 191 to 310; and HLSWI, 92, and 95% CI, 53 to 128) compared with ISS and SWI. All models were improved after the extension of age, gender, and injury mechanism, but the augmented IMP-ICDX still dominated ISS and SWI by every performance. Conclusions:The IMP-ICDX has a better discrimination and calibration compared to ISS. Therefore, we believe that IMP-ICDX could be a new viable trauma research assessment method.

Project description:BACKGROUND:Accurate anesthesiology procedure code data are essential to quality improvement, research, and reimbursement tasks within anesthesiology practices. Advanced data science techniques, including machine learning and natural language processing, offer opportunities to develop classification tools for Current Procedural Terminology codes across anesthesia procedures. METHODS:Models were created using a Train/Test dataset including 1,164,343 procedures from 16 academic and private hospitals. Five supervised machine learning models were created to classify anesthesiology Current Procedural Terminology codes, with accuracy defined as first choice classification matching the institutional-assigned code existing in the perioperative database. The two best performing models were further refined and tested on a Holdout dataset from a single institution distinct from Train/Test. A tunable confidence parameter was created to identify cases for which models were highly accurate, with the goal of at least 95% accuracy, above the reported 2018 Centers for Medicare and Medicaid Services (Baltimore, Maryland) fee-for-service accuracy. Actual submitted claim data from billing specialists were used as a reference standard. RESULTS:Support vector machine and neural network label-embedding attentive models were the best performing models, respectively, demonstrating overall accuracies of 87.9% and 84.2% (single best code), and 96.8% and 94.0% (within top three). Classification accuracy was 96.4% in 47.0% of cases using support vector machine and 94.4% in 62.2% of cases using label-embedding attentive model within the Train/Test dataset. In the Holdout dataset, respective classification accuracies were 93.1% in 58.0% of cases and 95.0% among 62.0%. The most important feature in model training was procedure text. CONCLUSIONS:Through application of machine learning and natural language processing techniques, highly accurate real-time models were created for anesthesiology Current Procedural Terminology code classification. The increased processing speed and a priori targeted accuracy of this classification approach may provide performance optimization and cost reduction for quality improvement, research, and reimbursement tasks reliant on anesthesiology procedure codes.

Project description:ObjectivesUnderstand the continuity and changes in headache not-otherwise-specified (NOS), migraine, and post-traumatic headache (PTH) diagnoses after the transition from ICD-9-CM to ICD-10-CM in the Veterans Health Administration (VHA).BackgroundHeadache is one of the most commonly diagnosed chronic conditions managed within primary and specialty care clinics. The VHA transitioned from ICD-9-CM to ICD-10-CM on October-1-2015. The effect transitioning on coding of specific headache diagnoses is unknown. Accuracy of headache diagnosis is important since different headache types respond to different treatments.MethodsWe mapped headache diagnoses from ICD-9-CM (FY 2014/2015) onto ICD-10-CM (FY 2016/2017) and computed coding proportions two years before/after the transition in VHA. We used queries to determine the change in transition pathways. We report the odds of ICD-10-CM coding associated with ICD-9-CM controlling for provider type, and patient age, sex, and race/ethnicity.ResultsOnly 37%, 58% and 34% of patients with ICD-9-CM coding of NOS, migraine, and PTH respectively had an ICD-10-CM headache diagnosis. Of those with an ICD-10-CM diagnosis, 73-79% had a single headache diagnosis. The odds ratios for receiving the same code in both ICD-9-CM and ICD-10-CM after adjustment for ICD-9-CM and ICD-10-CM headache comorbidities and sociodemographic factors were high (range 6-26) and statistically significant. Specifically, 75% of patients with headache NOS had received one headache diagnoses (Adjusted headache NOS-ICD-9-CM OR for headache NOS-ICD-10-CM = 6.1, 95% CI 5.89-6.32. 79% of migraineurs had one headache diagnoses, mostly migraine (Adjusted migraine-ICD-9-CM OR for migraine-ICD-10-CM = 26.43, 95% CI 25.51-27.38). The same held true for PTH (Adjusted PTH-ICD-9-CM OR for PTH-ICD-10-CM = 22.92, 95% CI: 18.97-27.68). These strong associations remained after adjustment for specialist care in ICD-10-CM follow-up period.DiscussionThe majority of people with ICD-9-CM headache diagnoses did not have an ICD-10-CM headache diagnosis. However, a given diagnosis in ICD-9-CM by a primary care provider (PCP) was significantly predictive of its assignment in ICD-10-CM as was seeing either a neurologist or physiatrist (compared to a generalist) for an ICD-10-CM headache diagnosis.ConclusionWhen a veteran had a specific diagnosis in ICD-9-CM, the odds of being coded with the same diagnosis in ICD-10-CM were significantly higher. Specialist visit during the ICD-10-CM period was independently associated with all three ICD-10-CM headaches.

Dataset Information

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.

Publications

Evaluating phecodes, clinical classification software, and ICD-9-CM codes for phenome-wide association studies in the electronic health record.

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