scholarly journals Clinical Phenotypic Spectrum of 4095 Individuals with Down Syndrome from Text Mining of Electronic Health Records

Genes ◽  
2021 ◽  
Vol 12 (8) ◽  
pp. 1159
Author(s):  
James Margolin Havrilla ◽  
Mengge Zhao ◽  
Cong Liu ◽  
Chunhua Weng ◽  
Ingo Helbig ◽  
...  
Keyword(s):  
Down Syndrome ◽  
Electronic Health Records ◽  
Language Processing ◽  
Genetic Disorders ◽  
Health Records ◽  
Human Phenotype ◽  
Phenotypic Spectrum ◽  
Digital Phenotyping ◽  
Electronic Health ◽  
Human Genetic Disorders

Human genetic disorders, such as Down syndrome, have a wide variety of clinical phenotypic presentations, and characterizing each nuanced phenotype and subtype can be difficult. In this study, we examined the electronic health records of 4095 individuals with Down syndrome at the Children’s Hospital of Philadelphia to create a method to characterize the phenotypic spectrum digitally. We extracted Human Phenotype Ontology (HPO) terms from quality-filtered patient notes using a natural language processing (NLP) approach MetaMap. We catalogued the most common HPO terms related to Down syndrome patients and compared the terms with those from a baseline population. We characterized the top 100 HPO terms by their frequencies at different ages of clinical visits and highlighted selected terms that have time-dependent distributions. We also discovered phenotypic terms that have not been significantly associated with Down syndrome, such as “Proptosis”, “Downslanted palpebral fissures”, and “Microtia”. In summary, our study demonstrated that the clinical phenotypic spectrum of individual with Mendelian diseases can be characterized through NLP-based digital phenotyping on population-scale electronic health records (EHRs).

Development of algorithm for classification smoking status from unstructured bilingual electronic health records based on natural language processing (Preprint)

2021 ◽  
Author(s):  
Ye Seul Bae ◽  
Kyung Hwan Kim ◽  
Han Kyul Kim ◽  
Sae Won Choi ◽  
Taehoon Ko ◽  
...  
Keyword(s):  
Natural Language Processing ◽  
Electronic Health Records ◽  
Natural Language ◽  
Language Processing ◽  
Smoking Status ◽  
Svm Classifier ◽  
Keyword Extraction ◽  
Health Records ◽  
Clinical Notes ◽  
Electronic Health

BACKGROUND Smoking is a major risk factor and important variable for clinical research, but there are few studies regarding automatic obtainment of smoking classification from unstructured bilingual electronic health records (EHR). OBJECTIVE We aim to develop an algorithm to classify smoking status based on unstructured EHRs using natural language processing (NLP). METHODS With acronym replacement and Python package Soynlp, we normalize 4,711 bilingual clinical notes. Each EHR notes was classified into 4 categories: current smokers, past smokers, never smokers, and unknown. Subsequently, SPPMI (Shifted Positive Point Mutual Information) is used to vectorize words in the notes. By calculating cosine similarity between these word vectors, keywords denoting the same smoking status are identified. RESULTS Compared to other keyword extraction methods (word co-occurrence-, PMI-, and NPMI-based methods), our proposed approach improves keyword extraction precision by as much as 20.0%. These extracted keywords are used in classifying 4 smoking statuses from our bilingual clinical notes. Given an identical SVM classifier, the extracted keywords improve the F1 score by as much as 1.8% compared to those of the unigram and bigram Bag of Words. CONCLUSIONS Our study shows the potential of SPPMI in classifying smoking status from bilingual, unstructured EHRs. Our current findings show how smoking information can be easily acquired and used for clinical practice and research.

scholarly journals Desiderata for computable representations of electronic health records-driven phenotype algorithms

2015 ◽  
Vol 22 (6) ◽  
pp. 1220-1230 ◽  
Author(s):  
Huan Mo ◽  
William K Thompson ◽  
Luke V Rasmussen ◽  
Jennifer A Pacheco ◽  
Guoqian Jiang ◽  
...  
Keyword(s):  
Electronic Health Records ◽  
Language Processing ◽  
Clinical Decision Making ◽  
Clinical Decision ◽  
Relational Algebra ◽  
Common Data Model ◽  
Health Records ◽  
Electronic Health ◽  
Value Sets ◽  
Text Searching

Abstract Background Electronic health records (EHRs) are increasingly used for clinical and translational research through the creation of phenotype algorithms. Currently, phenotype algorithms are most commonly represented as noncomputable descriptive documents and knowledge artifacts that detail the protocols for querying diagnoses, symptoms, procedures, medications, and/or text-driven medical concepts, and are primarily meant for human comprehension. We present desiderata for developing a computable phenotype representation model (PheRM). Methods A team of clinicians and informaticians reviewed common features for multisite phenotype algorithms published in PheKB.org and existing phenotype representation platforms. We also evaluated well-known diagnostic criteria and clinical decision-making guidelines to encompass a broader category of algorithms. Results We propose 10 desired characteristics for a flexible, computable PheRM: (1) structure clinical data into queryable forms; (2) recommend use of a common data model, but also support customization for the variability and availability of EHR data among sites; (3) support both human-readable and computable representations of phenotype algorithms; (4) implement set operations and relational algebra for modeling phenotype algorithms; (5) represent phenotype criteria with structured rules; (6) support defining temporal relations between events; (7) use standardized terminologies and ontologies, and facilitate reuse of value sets; (8) define representations for text searching and natural language processing; (9) provide interfaces for external software algorithms; and (10) maintain backward compatibility. Conclusion A computable PheRM is needed for true phenotype portability and reliability across different EHR products and healthcare systems. These desiderata are a guide to inform the establishment and evolution of EHR phenotype algorithm authoring platforms and languages.

scholarly journals Keyword Extraction Algorithm for Classifying Smoking Status from Unstructured Bilingual Electronic Health Records Based on Natural Language Processing

2021 ◽  
Vol 11 (19) ◽  
pp. 8812
Author(s):  
Ye Seul Bae ◽  
Kyung Hwan Kim ◽  
Han Kyul Kim ◽  
Sae Won Choi ◽  
Taehoon Ko ◽  
...  
Keyword(s):  
Natural Language Processing ◽  
Electronic Health Records ◽  
Natural Language ◽  
Language Processing ◽  
Smoking Status ◽  
Extraction Methods ◽  
Svm Classifier ◽  
Keyword Extraction ◽  
Health Records ◽  
Electronic Health

Smoking is an important variable for clinical research, but there are few studies regarding automatic obtainment of smoking classification from unstructured bilingual electronic health records (EHR). We aim to develop an algorithm to classify smoking status based on unstructured EHRs using natural language processing (NLP). With acronym replacement and Python package Soynlp, we normalize 4711 bilingual clinical notes. Each EHR notes was classified into 4 categories: current smokers, past smokers, never smokers, and unknown. Subsequently, SPPMI (Shifted Positive Point Mutual Information) is used to vectorize words in the notes. By calculating cosine similarity between these word vectors, keywords denoting the same smoking status are identified. Compared to other keyword extraction methods (word co-occurrence-, PMI-, and NPMI-based methods), our proposed approach improves keyword extraction precision by as much as 20.0%. These extracted keywords are used in classifying 4 smoking statuses from our bilingual EHRs. Given an identical SVM classifier, the F1 score is improved by as much as 1.8% compared to those of the unigram and bigram Bag of Words. Our study shows the potential of SPPMI in classifying smoking status from bilingual, unstructured EHRs. Our current findings show how smoking information can be easily acquired for clinical practice and research.

scholarly journals The portability of natural language processing methods to detect suicidality from unstructured clinical text in US and UK electronic health records

2021 ◽  
Author(s):  
Marika Cusick ◽  
Sumithra Velupillai ◽  
Johnny Downs ◽  
Thomas Campion ◽  
Rina Dutta ◽  
...  
Keyword(s):  
Natural Language Processing ◽  
Electronic Health Records ◽  
Natural Language ◽  
Language Processing ◽  
Healthcare Systems ◽  
Risk Identification ◽  
Health Records ◽  
Clinical Text ◽  
Academic Medical ◽  
Electronic Health

Abstract In the global effort to prevent death by suicide, many academic medical institutions are implementing natural language processing (NLP) approaches to detect suicidality from unstructured clinical text in electronic health records (EHRs), with the hope of targeting timely, preventative interventions to individuals most at risk of suicide. Despite the international need, the development of these NLP approaches in EHRs has been largely local and not shared across healthcare systems. In this study, we developed a process to share NLP approaches that were individually developed at King’s College London (KCL), UK and Weill Cornell Medicine (WCM), US - two academic medical centers based in different countries with vastly different healthcare systems. After a successful technical porting of the NLP approaches, our quantitative evaluation determined that independently developed NLP approaches can detect suicidality at another healthcare organization with a different EHR system, clinical documentation processes, and culture, yet do not achieve the same level of success as at the institution where the NLP algorithm was developed (KCL approach: F1-score 0.85 vs. 0.68, WCM approach: F1-score 0.87 vs. 0.72). Shared use of these NLP approaches is a critical step forward towards improving data-driven algorithms for early suicide risk identification and timely prevention.

Sign in / Sign up

Export Citation Format

Share Document