Deep learning models are increasingly used to analyze health records to model disease progression. Two characteristics of health records present challenges to developers of deep learning-based medical systems. First, the veracity of the estimation of missing health data must be evaluated to optimize the performance of deep learning models. Second, the currently most successful deep learning diagnostic models, called transformers, lack a mechanism to analyze the temporal characteristics of health records.

In this thesis, these two challenges are investigated using a real-world medical dataset of longitudinal health records from 340,143 patients over ten years called MIIDD:​ McMaster Imaging Information and Diagnostic Dataset. To address missing data, the performance of imputation models (mean, regression, and deep learning) were evaluated on a real-world medical dataset. Next, techniques from adversarial machine learning were used to demonstrate how imputation can have a cascading negative impact on a deep learning model. Then, the strengths and limitations of evaluation metrics from the statistical literature (qualitative, predictive accuracy, and statistical distance) to evaluate deep learning-based imputation models were investigated. This research can serve as a reference to researchers evaluating the impact of imputation on their deep learning models.

To analyze the temporal characteristics of health records, a new model was developed and evaluated called DTTHRE:​ Decoder Transformer for Temporally-Embedded Health Records Encoding. DTTHRE predicts patients’ primary diagnoses by analyzing their medical histories, including the elapsed time between visits. The proposed model successfully predicted patients’ primary diagnosis in their final visit with improved predictive performance (78.54 ± 0.22%) compared to existing models in the literature. DTTHRE also increased the training examples available from limited medical datasets by predicting the primary diagnosis for each visit (79.53 ± 0.25%) with no additional training time. This research contributes towards the goal of disease predictive modeling for clinical decision support.