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Knowledge discovery for Deep Phenotyping serious mental illness from Electronic Mental Health records.

ABSTRACT: Background: Deep Phenotyping is the precise and comprehensive analysis of phenotypic features in which the individual components of the phenotype are observed and described. In UK mental health clinical practice, most clinically relevant information is recorded as free text in the Electronic Health Record, and offers a granularity of information beyond what is expressed in most medical knowledge bases. The SNOMED CT nomenclature potentially offers the means to model such information at scale, yet given a sufficiently large body of clinical text collected over many years, it is difficult to identify the language that clinicians favour to express concepts. Methods: By utilising a large corpus of healthcare data, we sought to make use of semantic modelling and clustering techniques to represent the relationship between the clinical vocabulary of internationally recognised SMI symptoms and the preferred language used by clinicians within a care setting. We explore how such models can be used for discovering novel vocabulary relevant to the task of phenotyping Serious Mental Illness (SMI) with only a small amount of prior knowledge. Results: 20 403 terms were derived and curated via a two stage methodology. The list was reduced to 557 putative concepts based on eliminating redundant information content. These were then organised into 9 distinct categories pertaining to different aspects of psychiatric assessment. 235 concepts were found to be expressions of putative clinical significance. Of these, 53 were identified having novel synonymy with existing SNOMED CT concepts. 106 had no mapping to SNOMED CT. Conclusions: We demonstrate a scalable approach to discovering new concepts of SMI symptomatology based on real-world clinical observation. Such approaches may offer the opportunity to consider broader manifestations of SMI symptomatology than is typically assessed via current diagnostic frameworks, and create the potential for enhancing nomenclatures such as SNOMED CT based on real-world expressions.

SUBMITTER: Jackson R

PROVIDER: S-EPMC5968362 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ObjectiveDeveloping algorithms to extract phenotypes from electronic health records (EHRs) can be challenging and time-consuming. We developed PheMap, a high-throughput phenotyping approach that leverages multiple independent, online resources to streamline the phenotyping process within EHRs.Materials and methodsPheMap is a knowledge base of medical concepts with quantified relationships to phenotypes that have been extracted by natural language processing from publicly available resources. PheMap searches EHRs for each phenotype's quantified concepts and uses them to calculate an individual's probability of having this phenotype. We compared PheMap to clinician-validated phenotyping algorithms from the Electronic Medical Records and Genomics (eMERGE) network for type 2 diabetes mellitus (T2DM), dementia, and hypothyroidism using 84 821 individuals from Vanderbilt Univeresity Medical Center's BioVU DNA Biobank. We implemented PheMap-based phenotypes for genome-wide association studies (GWAS) for T2DM, dementia, and hypothyroidism, and phenome-wide association studies (PheWAS) for variants in FTO, HLA-DRB1, and TCF7L2.ResultsIn this initial iteration, the PheMap knowledge base contains quantified concepts for 841 disease phenotypes. For T2DM, dementia, and hypothyroidism, the accuracy of the PheMap phenotypes were >97% using a 50% threshold and eMERGE case-control status as a reference standard. In the GWAS analyses, PheMap-derived phenotype probabilities replicated 43 of 51 previously reported disease-associated variants for the 3 phenotypes. For 9 of the 11 top associations, PheMap provided an equivalent or more significant P value than eMERGE-based phenotypes. The PheMap-based PheWAS showed comparable or better performance to a traditional phecode-based PheWAS. PheMap is publicly available online.ConclusionsPheMap significantly streamlines the process of extracting research-quality phenotype information from EHRs, with comparable or better performance to current phenotyping approaches.

Project description:BackgroundSymptoms of serious mental illness are multidimensional and often interact in complex ways. Generative models offer value in elucidating the underlying relationships that characterise these networks of symptoms.AimsIn this paper we use generative models to find unique interactions of schizophrenia symptoms as experienced on a moment-by-moment basis.MethodSelf-reported mood, anxiety and psychosis symptoms, self-reported measurements of sleep quality and social function, cognitive assessment, and smartphone touch screen data from two assessments modelled after the Trail Making A and B tests were collected with a digital phenotyping app for 47 patients in active treatment for schizophrenia over a 90-day period. Patients were retrospectively divided up into various non-exclusive subgroups based on measurements of depression, anxiety, sleep duration, cognition and psychosis symptoms taken in the clinic. Associated transition probabilities for the patient cohort and for the clinical subgroups were calculated using state transitions between adjacent 3-day timesteps of pairwise survey domains.ResultsThe three highest probabilities for associated transitions across all patients were anxiety-inducing mood (0.357, P < 0.001), psychosis-inducing mood (0.276, P < 0.001), and anxiety-inducing poor sleep (0.268, P < 0.001). These transition probabilities were compared against a validation set of 17 patients from a pilot study, and no significant differences were found. Unique symptom networks were found for clinical subgroups.ConclusionsUsing a generative model using digital phenotyping data, we show that certain symptoms of schizophrenia may play a role in elevating other schizophrenia symptoms in future timesteps. Symptom networks show that it is feasible to create clinically interpretable models that reflect the unique symptom interactions of psychosis-spectrum illness. These results offer a framework for researchers capturing temporal dynamics, for clinicians seeking to move towards preventative care, and for patients to better understand their lived experience.

Project description:BackgroundDeep learning models have attracted significant interest from health care researchers during the last few decades. There have been many studies that apply deep learning to medical applications and achieve promising results. However, there are three limitations to the existing models: (1) most clinicians are unable to interpret the results from the existing models, (2) existing models cannot incorporate complicated medical domain knowledge (eg, a disease causes another disease), and (3) most existing models lack visual exploration and interaction. Both the electronic health record (EHR) data set and the deep model results are complex and abstract, which impedes clinicians from exploring and communicating with the model directly.ObjectiveThe objective of this study is to develop an interpretable and accurate risk prediction model as well as an interactive clinical prediction system to support EHR data exploration, knowledge graph demonstration, and model interpretation.MethodsA domain-knowledge-guided recurrent neural network (DG-RNN) model is proposed to predict clinical risks. The model takes medical event sequences as input and incorporates medical domain knowledge by attending to a subgraph of the whole medical knowledge graph. A global pooling operation and a fully connected layer are used to output the clinical outcomes. The middle results and the parameters of the fully connected layer are helpful in identifying which medical events cause clinical risks. DG-Viz is also designed to support EHR data exploration, knowledge graph demonstration, and model interpretation.ResultsWe conducted both risk prediction experiments and a case study on a real-world data set. A total of 554 patients with heart failure and 1662 control patients without heart failure were selected from the data set. The experimental results show that the proposed DG-RNN outperforms the state-of-the-art approaches by approximately 1.5%. The case study demonstrates how our medical physician collaborator can effectively explore the data and interpret the prediction results using DG-Viz.ConclusionsIn this study, we present DG-Viz, an interactive clinical prediction system, which brings together the power of deep learning (ie, a DG-RNN-based model) and visual analytics to predict clinical risks and visually interpret the EHR prediction results. Experimental results and a case study on heart failure risk prediction tasks demonstrate the effectiveness and usefulness of the DG-Viz system. This study will pave the way for interactive, interpretable, and accurate clinical risk predictions.

Project description:BackgroundPhenotype information in electronic health records (EHRs) is mainly recorded in unstructured free text, which cannot be directly used for clinical research. EHR-based deep-phenotyping methods can structure phenotype information in EHRs with high fidelity, making it the focus of medical informatics. However, developing a deep-phenotyping method for non-English EHRs (ie, Chinese EHRs) is challenging. Although numerous EHR resources exist in China, fine-grained annotation data that are suitable for developing deep-phenotyping methods are limited. It is challenging to develop a deep-phenotyping method for Chinese EHRs in such a low-resource scenario.ObjectiveIn this study, we aimed to develop a deep-phenotyping method with good generalization ability for Chinese EHRs based on limited fine-grained annotation data.MethodsThe core of the methodology was to identify linguistic patterns of phenotype descriptions in Chinese EHRs with a sequence motif discovery tool and perform deep phenotyping of Chinese EHRs by recognizing linguistic patterns in free text. Specifically, 1000 Chinese EHRs were manually annotated based on a fine-grained information model, PhenoSSU (Semantic Structured Unit of Phenotypes). The annotation data set was randomly divided into a training set (n=700, 70%) and a testing set (n=300, 30%). The process for mining linguistic patterns was divided into three steps. First, free text in the training set was encoded as single-letter sequences (P: phenotype, A: attribute). Second, a biological sequence analysis tool-MEME (Multiple Expectation Maximums for Motif Elicitation)-was used to identify motifs in the single-letter sequences. Finally, the identified motifs were reduced to a series of regular expressions representing linguistic patterns of PhenoSSU instances in Chinese EHRs. Based on the discovered linguistic patterns, we developed a deep-phenotyping method for Chinese EHRs, including a deep learning-based method for named entity recognition and a pattern recognition-based method for attribute prediction.ResultsIn total, 51 sequence motifs with statistical significance were mined from 700 Chinese EHRs in the training set and were combined into six regular expressions. It was found that these six regular expressions could be learned from a mean of 134 (SD 9.7) annotated EHRs in the training set. The deep-phenotyping algorithm for Chinese EHRs could recognize PhenoSSU instances with an overall accuracy of 0.844 on the test set. For the subtask of entity recognition, the algorithm achieved an F1 score of 0.898 with the Bidirectional Encoder Representations from Transformers-bidirectional long short-term memory and conditional random field model; for the subtask of attribute prediction, the algorithm achieved a weighted accuracy of 0.940 with the linguistic pattern-based method.ConclusionsWe developed a simple but effective strategy to perform deep phenotyping of Chinese EHRs with limited fine-grained annotation data. Our work will promote the second use of Chinese EHRs and give inspiration to other non-English-speaking countries.

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Knowledge discovery for Deep Phenotyping serious mental illness from Electronic Mental Health records.

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