Dataset Information

Embedding electronic health records onto a knowledge network recognizes prodromal features of multiple sclerosis and predicts diagnosis.

ABSTRACT:

Objective

Early identification of chronic diseases is a pillar of precision medicine as it can lead to improved outcomes, reduction of disease burden, and lower healthcare costs. Predictions of a patient's health trajectory have been improved through the application of machine learning approaches to electronic health records (EHRs). However, these methods have traditionally relied on "black box" algorithms that can process large amounts of data but are unable to incorporate domain knowledge, thus limiting their predictive and explanatory power. Here, we present a method for incorporating domain knowledge into clinical classifications by embedding individual patient data into a biomedical knowledge graph.

Materials and methods

A modified version of the Page rank algorithm was implemented to embed millions of deidentified EHRs into a biomedical knowledge graph (SPOKE). This resulted in high-dimensional, knowledge-guided patient health signatures (ie, SPOKEsigs) that were subsequently used as features in a random forest environment to classify patients at risk of developing a chronic disease.

Results

Our model predicted disease status of 5752 subjects 3 years before being diagnosed with multiple sclerosis (MS) (AUC = 0.83). SPOKEsigs outperformed predictions using EHRs alone, and the biological drivers of the classifiers provided insight into the underpinnings of prodromal MS.

Conclusion

Using data from EHR as input, SPOKEsigs describe patients at both the clinical and biological levels. We provide a clinical use case for detecting MS up to 5 years prior to their documented diagnosis in the clinic and illustrate the biological features that distinguish the prodromal MS state.

SUBMITTER: Nelson CA

PROVIDER: S-EPMC8800523 | biostudies-literature |

REPOSITORIES: biostudies-literature

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Project description:ObjectiveTo optimally leverage the scalability and unique features of the electronic health records (EHR) for research that would ultimately improve patient care, we need to accurately identify patients and extract clinically meaningful measures. Using multiple sclerosis (MS) as a proof of principle, we showcased how to leverage routinely collected EHR data to identify patients with a complex neurological disorder and derive an important surrogate measure of disease severity heretofore only available in research settings.MethodsIn a cross-sectional observational study, 5,495 MS patients were identified from the EHR systems of two major referral hospitals using an algorithm that includes codified and narrative information extracted using natural language processing. In the subset of patients who receive neurological care at a MS Center where disease measures have been collected, we used routinely collected EHR data to extract two aggregate indicators of MS severity of clinical relevance multiple sclerosis severity score (MSSS) and brain parenchymal fraction (BPF, a measure of whole brain volume).ResultsThe EHR algorithm that identifies MS patients has an area under the curve of 0.958, 83% sensitivity, 92% positive predictive value, and 89% negative predictive value when a 95% specificity threshold is used. The correlation between EHR-derived and true MSSS has a mean R(2) = 0.38±0.05, and that between EHR-derived and true BPF has a mean R(2) = 0.22±0.08. To illustrate its clinical relevance, derived MSSS captures the expected difference in disease severity between relapsing-remitting and progressive MS patients after adjusting for sex, age of symptom onset and disease duration (p = 1.56×10(-12)).ConclusionIncorporation of sophisticated codified and narrative EHR data accurately identifies MS patients and provides estimation of a well-accepted indicator of MS severity that is widely used in research settings but not part of the routine medical records. Similar approaches could be applied to other complex neurological disorders.

Project description:BackgroundThe secondary use of structured electronic medical record (sEMR) data has become a challenge due to the diversity, sparsity, and high dimensionality of the data representation. Constructing an effective representation for sEMR data is becoming more and more crucial for subsequent data applications.ObjectiveWe aimed to apply the embedding technique used in the natural language processing domain for the sEMR data representation and to explore the feasibility and superiority of the embedding-based feature and patient representations in clinical application.MethodsThe entire training corpus consisted of records of 104,752 hospitalized patients with 13,757 medical concepts of disease diagnoses, physical examinations and procedures, laboratory tests, medications, etc. Each medical concept was embedded into a 200-dimensional real number vector using the Skip-gram algorithm with some adaptive changes from shuffling the medical concepts in a record 20 times. The average of vectors for all medical concepts in a patient record represented the patient. For embedding-based feature representation evaluation, we used the cosine similarities among the medical concept vectors to capture the latent clinical associations among the medical concepts. We further conducted a clustering analysis on stroke patients to evaluate and compare the embedding-based patient representations. The Hopkins statistic, Silhouette index (SI), and Davies-Bouldin index were used for the unsupervised evaluation, and the precision, recall, and F1 score were used for the supervised evaluation.ResultsThe dimension of patient representation was reduced from 13,757 to 200 using the embedding-based representation. The average cosine similarity of the selected disease (subarachnoid hemorrhage) and its 15 clinically relevant medical concepts was 0.973. Stroke patients were clustered into two clusters with the highest SI (0.852). Clustering analyses conducted on patients with the embedding representations showed higher applicability (Hopkins statistic 0.931), higher aggregation (SI 0.862), and lower dispersion (Davies-Bouldin index 0.551) than those conducted on patients with reference representation methods. The clustering solutions for patients with the embedding-based representation achieved the highest F1 scores of 0.944 and 0.717 for two clusters.ConclusionsThe feature-level embedding-based representations can reflect the potential clinical associations among medical concepts effectively. The patient-level embedding-based representation is easy to use as continuous input to standard machine learning algorithms and can bring performance improvements. It is expected that the embedding-based representation will be helpful in a wide range of secondary uses of sEMR data.