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Objective: To create a computable MEDication Indication resource (MEDI) to support primary and secondary use of electronic medical records (EMRs)., Materials and Methods: We processed four public medication resources, RxNorm, Side Effect Resource (SIDER) 2, MedlinePlus, and Wikipedia, to create MEDI. We applied natural language processing and ontology relationships to extract indications for prescribable, single-ingredient medication concepts and all ingredient concepts as defined by RxNorm. Indications were coded as Unified Medical Language System (UMLS) concepts and International Classification of Diseases, 9th edition (ICD9) codes. A total of 689 extracted indications were randomly selected for manual review for accuracy using dual-physician review. We identified a subset of medication-indication pairs that optimizes recall while maintaining high precision., Results: MEDI contains 3112 medications and 63 343 medication-indication pairs. Wikipedia was the largest resource, with 2608 medications and 34 911 pairs. For each resource, estimated precision and recall, respectively, were 94% and 20% for RxNorm, 75% and 33% for MedlinePlus, 67% and 31% for SIDER 2, and 56% and 51% for Wikipedia. The MEDI high-precision subset (MEDI-HPS) includes indications found within either RxNorm or at least two of the three other resources. MEDI-HPS contains 13 304 unique indication pairs regarding 2136 medications. The mean±SD number of indications for each medication in MEDI-HPS is 6.22 ± 6.09. The estimated precision of MEDI-HPS is 92%., Conclusions: MEDI is a publicly available, computable resource that links medications with their indications as represented by concepts and billing codes. MEDI may benefit clinical EMR applications and reuse of EMR data for research.

Background: ECG QRS duration, a measure of cardiac intraventricular conduction, varies ≈2-fold in individuals without cardiac disease. Slow conduction may promote re-entrant arrhythmias., Methods and Results: We performed a genome-wide association study to identify genomic markers of QRS duration in 5272 individuals without cardiac disease selected from electronic medical record algorithms at 5 sites in the Electronic Medical Records and Genomics (eMERGE) network. The most significant loci were evaluated within the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) consortium QRS genome-wide association study meta-analysis. Twenty-three single-nucleotide polymorphisms in 5 loci, previously described by CHARGE, were replicated in the eMERGE samples; 18 single-nucleotide polymorphisms were in the chromosome 3 SCN5A and SCN10A loci, where the most significant single-nucleotide polymorphisms were rs1805126 in SCN5A with P=1.2×10(-8) (eMERGE) and P=2.5×10(-20) (CHARGE) and rs6795970 in SCN10A with P=6×10(-6) (eMERGE) and P=5×10(-27) (CHARGE). The other loci were in NFIA, near CDKN1A, and near C6orf204. We then performed phenome-wide association studies on variants in these 5 loci in 13859 European Americans to search for diagnoses associated with these markers. Phenome-wide association study identified atrial fibrillation and cardiac arrhythmias as the most common associated diagnoses with SCN10A and SCN5A variants. SCN10A variants were also associated with subsequent development of atrial fibrillation and arrhythmia in the original 5272 "heart-healthy" study population., Conclusions: We conclude that DNA biobanks coupled to electronic medical records not only provide a platform for genome-wide association study but also may allow broad interrogation of the longitudinal incidence of disease associated with genetic variants. The phenome-wide association study approach implicated sodium channel variants modulating QRS duration in subjects without cardiac disease as predictors of subsequent arrhythmias.

Understanding of medications-disease relationships is critical to distinguish indications from adverse effects, and medication exposures serve as important markers of disease and severity in electronic medical records (EMR). We created a computable medication-indication (MEDI) resource by applying natural language processing and ontology relationships to four public medication resources. Physicians evaluated accuracy of medication-indication relationships. MEDI contained 3,112 medications and 63,343 medication-indication pairs derived from the four resources, whose precisions varied from 56-94%. The MEDI high precision subset (MEDI-HPS) includes indications found within either RxNorm or ≥2 resources and had an estimated precision of 92%. MEDI-HPS contains 13,304 unique indication pairs for 2,136 medications. MEDI is a free, computable resource that links medications with their indications as represented by formal concepts and may assist clinical and research uses of EMR data.

Background: Difficulty identifying patients in need of colorectal cancer (CRC) screening contributes to low screening rates., Objective: To use Electronic Health Record (EHR) data to identify patients with prior CRC testing., Design: A clinical natural language processing (NLP) system was modified to identify 4 CRC tests (colonoscopy, flexible sigmoidoscopy, fecal occult blood testing, and double contrast barium enema) within electronic clinical documentation. Text phrases in clinical notes referencing CRC tests were interpreted by the system to determine whether testing was planned or completed and to estimate the date of completed tests., Setting: Large academic medical center., Patients: 200 patients ≥ 50 years old who had completed ≥ 2 non-acute primary care visits within a 1-year period., Measures: Recall and precision of the NLP system, billing records, and human chart review were compared to a reference standard of human review of all available information sources., Results: For identification of all CRC tests, recall and precision were as follows: NLP system (recall 93%, precision 94%), chart review (74%, 98%), and billing records review (44%, 83%). Recall and precision for identification of patients in need of screening were: NLP system (recall 95%, precision 88%), chart review (99%, 82%), and billing records (99%, 67%)., Limitations: Small sample size and requirement for a robust EHR., Conclusions: Applying NLP to EHR records detected more CRC tests than either manual chart review or billing records review alone. NLP had better precision but marginally lower recall to identify patients who were due for CRC screening than billing record review.

We repurposed existing genotypes in DNA biobanks across the Electronic Medical Records and Genomics network to perform a genome-wide association study for primary hypothyroidism, the most common thyroid disease. Electronic selection algorithms incorporating billing codes, laboratory values, text queries, and medication records identified 1317 cases and 5053 controls of European ancestry within five electronic medical records (EMRs); the algorithms' positive predictive values were 92.4% and 98.5% for cases and controls, respectively. Four single-nucleotide polymorphisms (SNPs) in linkage disequilibrium at 9q22 near FOXE1 were associated with hypothyroidism at genome-wide significance, the strongest being rs7850258 (odds ratio [OR] 0.74, p = 3.96 × 10(-9)). This association was replicated in a set of 263 cases and 1616 controls (OR = 0.60, p = 5.7 × 10(-6)). A phenome-wide association study (PheWAS) that was performed on this locus with 13,617 individuals and more than 200,000 patient-years of billing data identified associations with additional phenotypes: thyroiditis (OR = 0.58, p = 1.4 × 10(-5)), nodular (OR = 0.76, p = 3.1 × 10(-5)) and multinodular (OR = 0.69, p = 3.9 × 10(-5)) goiters, and thyrotoxicosis (OR = 0.76, p = 1.5 × 10(-3)), but not Graves disease (OR = 1.03, p = 0.82). Thyroid cancer, previously associated with this locus, was not significantly associated in the PheWAS (OR = 1.29, p = 0.09). The strongest association in the PheWAS was hypothyroidism (OR = 0.76, p = 2.7 × 10(-13)), which had an odds ratio that was nearly identical to that of the curated case-control population in the primary analysis, providing further validation of the PheWAS method. Our findings indicate that EMR-linked genomic data could allow discovery of genes associated with many diseases without additional genotyping cost., (Copyright © 2011 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.)

Objective: To develop an automated system to extract medications and related information from discharge summaries as part of the 2009 i2b2 natural language processing (NLP) challenge. This task required accurate recognition of medication name, dosage, mode, frequency, duration, and reason for drug administration., Design: We developed an integrated system using several existing NLP components developed at Vanderbilt University Medical Center, which included MedEx (to extract medication information), SecTag (a section identification system for clinical notes), a sentence splitter, and a spell checker for drug names. Our goal was to achieve good performance with minimal to no specific training for this document corpus; thus, evaluating the portability of those NLP tools beyond their home institution. The integrated system was developed using 17 notes that were annotated by the organizers and evaluated using 251 notes that were annotated by participating teams., Measurements: The i2b2 challenge used standard measures, including precision, recall, and F-measure, to evaluate the performance of participating systems. There were two ways to determine whether an extracted textual finding is correct or not: exact matching or inexact matching. The overall performance for all six types of medication-related findings across 251 annotated notes was considered as the primary metric in the challenge., Results: Our system achieved an overall F-measure of 0.821 for exact matching (0.839 precision; 0.803 recall) and 0.822 for inexact matching (0.866 precision; 0.782 recall). The system ranked second out of 20 participating teams on overall performance at extracting medications and related information., Conclusions: The results show that the existing MedEx system, together with other NLP components, can extract medication information in clinical text from institutions other than the site of algorithm development with reasonable performance.

Colorectal cancer (CRC) screening rates are low despite confirmed benefits. The authors investigated the use of natural language processing (NLP) to identify previous colonoscopy screening in electronic records from a random sample of 200 patients at least 50 years old. The authors developed algorithms to recognize temporal expressions and 'status indicators', such as 'patient refused', or 'test scheduled'. The new methods were added to the existing KnowledgeMap concept identifier system, and the resulting system was used to parse electronic medical records (EMR) to detect completed colonoscopies. Using as the 'gold standard' expert physicians' manual review of EMR notes, the system identified timing references with a recall of 0.91 and precision of 0.95, colonoscopy status indicators with a recall of 0.82 and precision of 0.95, and references to actually completed colonoscopies with recall of 0.93 and precision of 0.95. The system was superior to using colonoscopy billing codes alone. Health services researchers and clinicians may find NLP a useful adjunct to traditional methods to detect CRC screening status. Further investigations must validate extension of NLP approaches for other types of CRC screening applications.

Motivation: Emergence of genetic data coupled to longitudinal electronic medical records (EMRs) offers the possibility of phenome-wide association scans (PheWAS) for disease-gene associations. We propose a novel method to scan phenomic data for genetic associations using International Classification of Disease (ICD9) billing codes, which are available in most EMR systems. We have developed a code translation table to automatically define 776 different disease populations and their controls using prevalent ICD9 codes derived from EMR data. As a proof of concept of this algorithm, we genotyped the first 6005 European-Americans accrued into BioVU, Vanderbilt's DNA biobank, at five single nucleotide polymorphisms (SNPs) with previously reported disease associations: atrial fibrillation, Crohn's disease, carotid artery stenosis, coronary artery disease, multiple sclerosis, systemic lupus erythematosus and rheumatoid arthritis. The PheWAS software generated cases and control populations across all ICD9 code groups for each of these five SNPs, and disease-SNP associations were analyzed. The primary outcome of this study was replication of seven previously known SNP-disease associations for these SNPs., Results: Four of seven known SNP-disease associations using the PheWAS algorithm were replicated with P-values between 2.8 x 10(-6) and 0.011. The PheWAS algorithm also identified 19 previously unknown statistical associations between these SNPs and diseases at P < 0.01. This study indicates that PheWAS analysis is a feasible method to investigate SNP-disease associations. Further evaluation is needed to determine the validity of these associations and the appropriate statistical thresholds for clinical significance., Availability: The PheWAS software and code translation table are freely available at http://knowledgemap.mc.vanderbilt.edu/research.

Colorectal cancer (CRC) screening rates are low despite proven benefits. We developed natural language processing (NLP) algorithms to identify temporal expressions and status indicators, such as "patient refused" or "test scheduled." The authors incorporated the algorithms into the KnowledgeMap Concept Identifier system in order to detect references to completed colonoscopies within electronic text. The modified NLP system was evaluated using 200 randomly selected electronic medical records (EMRs) from a primary care population aged >/=50 years. The system detected completed colonoscopies with recall and precision of 0.93 and 0.92. The system was superior to a query of colonoscopy billing codes to determine screening status.