Automatic subphenotyping from electronic health records (EHRs)provides numerous opportunities to understand diseases with unique subgroups and enhance personalized medicine for patients. However, existing machine learning algorithms either focus on specific diseases for better interpretability or produce coarse-grained phenotype topics without considering nuanced disease patterns. In this study, we propose a guided topic model, MixEHR-Nest, to infer sub-phenotype topics from thousands of disease using multi-modal EHR data. Specifically, MixEHR-Nest detects multiple subtopics from each phenotype topic, whose prior is guided by the expert-curated phenotype concepts such as Phenotype Codes (PheCodes) or Clinical Classification Software (CCS) codes. We evaluated MixEHR-Nest on two EHR datasets: (1) the MIMIC-III dataset consisting of over 38 thousand patients from intensive care unit (ICU) from Beth Israel Deaconess Medical Center (BIDMC) in Boston, USA; (2) the healthcare administrative database PopHR, comprising 1.3 million patients from Montreal, Canada. Experimental results demonstrate that MixEHR-Nest can identify subphenotypes with distinct patterns within each phenotype, which are predictive for disease progression and severity. Consequently, MixEHR-Nest distinguishes between type 1 and type 2 diabetes by inferring subphenotypes using CCS codes, which do not differentiate these two subtype concepts. Additionally, MixEHR-Nest not only improved the prediction accuracy of short-term mortality of ICU patients and initial insulin treatment in diabetic patients but also revealed the contributions of subphenotypes. For longitudinal analysis, MixEHR-Nest identified subphenotypes of distinct age prevalence under the same phenotypes, such as asthma, leukemia, epilepsy, and depression. The MixEHR-Nest software is available at GitHub: https://github.com/li-lab-mcgill/MixEHR-Nest.

In many domains, such as healthcare, time-series data is often irregularly sampled with varying intervals between observations. This poses challenges for classical time-series models that require equally spaced data. To address this, we propose a novel time-series Transformer called Trajectory Generative Pre-trained Transformer (TrajGPT). TrajGPT employs a novel Selective Recurrent Attention (SRA) mechanism, which utilizes a data-dependent decay to adaptively filter out irrelevant past information based on contexts. By interpreting TrajGPT as discretized ordinary differential equations (ODEs), it effectively captures the underlying continuous dynamics and enables time-specific inference for forecasting arbitrary target timesteps. Experimental results demonstrate that TrajGPT excels in trajectory forecasting, drug usage prediction, and phenotype classification without requiring task-specific fine-tuning. By evolving the learned continuous dynamics, TrajGPT can interpolate and extrapolate disease risk trajectories from partially-observed time series. The visualization of predicted health trajectories shows that TrajGPT forecasts unseen diseases based on the history of clinically relevant phenotypes (i.e., contexts). Time-series representation learning plays a crucial role in various domains, as it facilitates the extraction of generalizable temporal patterns from large-scale, unlabeled data, which can then be adapted for diverse tasks (Ma et al., 2023).

Infectious disease outbreaks continue to pose a significant threat to human health and well-being. To improve disease surveillance and understanding of disease spread, several surveillance systems have been developed to monitor daily news alerts and social media. However, existing systems lack thorough epidemiological analysis in relation to corresponding alerts or news, largely due to the scarcity of well-annotated reports data. To address this gap, we introduce the Biomedical Alert News Dataset (BAND), which includes 1,508 samples from existing reported news articles, open emails, and alerts, as well as 30 epidemiology-related questions. These questions necessitate the model's expert reasoning abilities, thereby offering valuable insights into the outbreak of the disease. The BAND dataset brings new challenges to the NLP world, requiring better disguise capability of the content and the ability to infer important information. We provide several benchmark tasks, including Named Entity Recognition (NER), Question Answering (QA), and Event Extraction (EE), to show how existing models are capable of handling these tasks in the epidemiology domain. To the best of our knowledge, the BAND corpus is the largest corpus of well-annotated biomedical outbreak alert news with elaborately designed questions, making it a valuable resource for epidemiologists and NLP researchers alike.

The COVID-19 pandemic has spread rapidly worldwide, overwhelming manual contact tracing in many countries and resulting in widespread lockdowns for emergency containment. Various DCT methods have been proposed, each making tradeoffs between privacy, mobility restrictions, and public health. The most common approach, binary contact tracing (BCT), models infection as a binary event, informed only by an individual's test results, with corresponding binary recommendations that either all or none of the individual's contacts quarantine. BCT ignores the inherent uncertainty in contacts and the infection process, which could be used to tailor messaging to high-risk individuals, and prompt proactive testing or earlier warnings. It also does not make use of observations such as symptoms or preexisting medical conditions, which could be used to make more accurate infectiousness predictions. In this paper, we use a recently-proposed COVID-19 epidemiological simulator to develop and test methods that can be deployed to a smartphone to locally and proactively predict an individual's infectiousness (risk of infecting others) based on their contact history and other information, while respecting strong privacy constraints. Predictions are used to provide personalized recommendations to the individual via an app, as well as to send anonymized messages to the individual's contacts, who use this information to better predict their own infectiousness, an approach we call proactive contact tracing (PCT). Similarly to other works, we find that compared to no tracing, all DCT methods tested are able to reduce spread of the disease and thus save lives, even at low adoption rates, strongly supporting a role for DCT methods in managing the pandemic. Further, we find a deep-learning based PCT method which improves over BCT for equivalent average mobility, suggesting PCT could help in safe reopening and second-wave prevention. Until pharmaceutical interventions such as a vaccine become available, control of the COVID-19 pandemic relies on nonpharmaceutical interventions such as lockdown and social distancing. While these have often been successful in limiting spread of the disease in the short term, these restrictive measures have important negative social, mental health, and economic impacts. Digital contact tracing (DCT), a technique to track the spread of the virus among individuals in a population using smartphones, is an attractive potential solution to help reduce growth in the number of cases and thereby allow more economic and social activities to resume while keeping the number of cases low. All bolded terms are defined in the Glossary; Appendix 1.

Unplanned hospital readmissions raise health care costs and cause significant distress to patients. Hence, predicting which patients are at risk to be readmitted is of great interest. In this paper, we mine large amounts of administrative information from claim data, including patients demographics, dispensed drugs, medical or surgical procedures performed, and medical diagnosis, in order to predict readmission using supervised learning methods. Our objective is to gain knowledge about the predictive power of the available information. Our preliminary results on data from the provincial hospital system in Quebec illustrate the potential for this approach to reveal important information on factors that trigger hospital readmission. Our findings suggest that a substantial portion of readmissions is inherently hard to predict. Consequently, the use of the raw readmission rate as an indicator of the quality of provided care might not be appropriate.