Anna Munoz-Farre, Antonios Poulakakis-Daktylidis, Dilini Mahesha Kothalawala et al.
We propose a novel approach for interpreting deep embeddings in the context of patient clustering. We evaluate our approach on a dataset of participants with type 2 diabetes from the UK Biobank, and demonstrate clinically meaningful insights into disease progression patterns.
Anna Munoz-Farre, Harry Rose, Sera Aylin Cakiroglu
Electronic health records (EHR) offer unprecedented opportunities for in-depth clinical phenotyping and prediction of clinical outcomes. Combining multiple data sources is crucial to generate a complete picture of disease prevalence, incidence and trajectories. The standard approach to combining clinical data involves collating clinical terms across different terminology systems using curated maps, which are often inaccurate and/or incomplete. Here, we propose sEHR-CE, a novel framework based on transformers to enable integrated phenotyping and analyses of heterogeneous clinical datasets without relying on these mappings. We unify clinical terminologies using textual descriptors of concepts, and represent individuals' EHR as sections of text. We then fine-tune pre-trained language models to predict disease phenotypes more accurately than non-text and single terminology approaches. We validate our approach using primary and secondary care data from the UK Biobank, a large-scale research study. Finally, we illustrate in a type 2 diabetes use case how sEHR-CE identifies individuals without diagnosis that share clinical characteristics with patients.