Today, despite decades of developments in medicine and the growing interest in precision healthcare, vast majority of diagnoses happen once patients begin to show noticeable signs of illness. Early indication and detection of diseases, however, can provide patients and carers with the chance of early intervention, better disease management, and efficient allocation of healthcare resources. The latest developments in machine learning (more specifically, deep learning) provides a great opportunity to address this unmet need. In this study, we introduce BEHRT: A deep neural sequence transduction model for EHR (electronic health records), capable of multitask prediction and disease trajectory mapping. When trained and evaluated on the data from nearly 1.6 million individuals, BEHRT shows a striking absolute improvement of 8.0-10.8%, in terms of Average Precision Score, compared to the existing state-of-the-art deep EHR models (in terms of average precision, when predicting for the onset of 301 conditions). In addition to its superior prediction power, BEHRT provides a personalised view of disease trajectories through its attention mechanism; its flexible architecture enables it to incorporate multiple heterogeneous concepts (e.g., diagnosis, medication, measurements, and more) to improve the accuracy of its predictions; and its (pre-)training results in disease and patient representations that can help us get a step closer to interpretable predictions.

Machine learning is frequently being leveraged to tackle problems in the health sector including utilization for clinical decision-support. Its use has historically been focused on single modal data. Attempts to improve prediction and mimic the multimodal nature of clinical expert decision-making has been met in the biomedical field of machine learning by fusing disparate data. This review was conducted to summarize the current studies in this field and identify topics ripe for future research. We conducted this review in accordance with the PRISMA extension for Scoping Reviews to characterize multi-modal data fusion in health. Search strings were established and used in databases: PubMed, Google Scholar, and IEEEXplore from 2011 to 2021. A final set of 128 articles were included in the analysis. The most common health areas utilizing multi-modal methods were neurology and oncology. Early fusion was the most common data merging strategy. Notably, there was an improvement in predictive performance when using data fusion. Lacking from the papers were clear clinical deployment strategies, FDA-approval, and analysis of how using multimodal approaches from diverse sub-populations may improve biases and healthcare disparities. These findings provide a summary on multimodal data fusion as applied to health diagnosis/prognosis problems. Few papers compared the outputs of a multimodal approach with a unimodal prediction. However, those that did achieved an average increase of 6.4% in predictive accuracy. Multi-modal machine learning, while more robust in its estimations over unimodal methods, has drawbacks in its scalability and the time-consuming nature of information concatenation.

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Predicting the incidence of complex chronic conditions such as heart failure is challenging. Deep learning models applied to rich electronic health records may improve prediction but remain unexplainable hampering their wider use in medical practice. We aimed to develop a deep-learning framework for accurate and yet explainable prediction of 6-month incident heart failure (HF). Using 100,071 patients from longitudinal linked electronic health records across the UK, we applied a novel Transformer-based risk model using all community and hospital diagnoses and medications contextualized within the age and calendar year for each patient's clinical encounter. Feature importance was investigated with an ablation analysis to compare model performance when alternatively removing features and by comparing the variability of temporal representations. A post-hoc perturbation technique was conducted to propagate the changes in the input to the outcome for feature contribution analyses. Our model achieved 0.93 area under the receiver operator curve and 0.69 area under the precision-recall curve on internal 5-fold cross validation and outperformed existing deep learning models. Ablation analysis indicated medication is important for predicting HF risk, calendar year is more important than chronological age, which was further reinforced by temporal variability analysis. Contribution analyses identified risk factors that are closely related to HF. Many of them were consistent with existing knowledge from clinical and epidemiological research but several new associations were revealed which had not been considered in expert-driven risk prediction models. In conclusion, the results highlight that our deep learning model, in addition high predictive performance, can inform data-driven risk factor identification.