Embedding electronic health records onto a knowledge network recognizes prodromal features of multiple sclerosis and predicts diagnosis
| Autor: | Charlotte A Nelson, Riley Bove, Atul J Butte, Sergio E Baranzini |
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| Rok vydání: | 2021 |
| Předmět: |
Multiple Sclerosis
AcademicSubjects/SCI01060 Health Informatics Neurodegenerative Research and Applications Medical and Health Sciences Machine Learning Engineering Clinical Research Information and Computing Sciences Humans Precision Medicine preventative medicine AcademicSubjects/MED00580 Neurosciences Brain Disorders 8.4 Research design and methodologies (health services) electronic health records Networking and Information Technology R&D Good Health and Well Being knowledge graph Neurological Patient Safety Generic health relevance AcademicSubjects/SCI01530 Algorithms Medical Informatics Health and social care services research |
| Zdroj: | Journal of the American Medical Informatics Association : JAMIA, vol 29, iss 3 Journal of the American Medical Informatics Association : JAMIA |
| ISSN: | 1527-974X 1067-5027 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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