Objective For the UK Biobank standardized phenotype codes are associated with patients who have been hospitalized but are missing for many patients who have been treated exclusively in an outpatient setting. We describe a method for phenotype recognition that imputes phenotype codes for all UK Biobank participants. Materials and Methods POPDx (Population-based Objective Phenotyping by Deep Extrapolation) is a bilinear machine learning framework for simultaneously estimating the probabilities of 1,538 phenotype codes. We extracted phenotypic and health-related information of 392,246 individuals from the UK Biobank for POPDx development and evaluation. A total of 12,803 ICD-10 diagnosis codes of the patients were converted to 1,538 Phecodes as gold standard labels. The POPDx framework was evaluated and compared to other available methods on automated multi-phenotype recognition. Results POPDx can predict phenotypes that are rare or even unobserved in training. We demonstrate substantial improvement of automated multi-phenotype recognition across 22 disease categories, and its application in identifying key epidemiological features associated with each phenotype. Conclusions POPDx helps provide well-defined cohorts for downstream studies. It is a general purpose method that can be applied to other biobanks with diverse but incomplete data.
The recent success of machine learning methods applied to time series collected from Intensive Care Units (ICU) exposes the lack of standardized machine learning benchmarks for developing and comparing such methods. While raw datasets, such as MIMIC-IV or eICU, can be freely accessed on Physionet, the choice of tasks and pre-processing is often chosen ad-hoc for each publication, limiting comparability across publications. In this work, we aim to improve this situation by providing a benchmark covering a large spectrum of ICU-related tasks. Using the HiRID dataset, we define multiple clinically relevant tasks in collaboration with clinicians. In addition, we provide a reproducible end-to-end pipeline to construct both data and labels. Finally, we provide an in-depth analysis of current state-of-the-art sequence modeling methods, highlighting some limitations of deep learning approaches for this type of data. With this benchmark, we hope to give the research community the possibility of a fair comparison of their work.
Due to the wider availability of modern electronic health records, patient care data is often being stored in the form of time-series. Clustering such time-series data is crucial for patient phenotyping, anticipating patients' prognoses by identifying "similar" patients, and designing treatment guidelines that are tailored to homogeneous patient subgroups. In this paper, we develop a deep learning approach for clustering time-series data, where each cluster comprises patients who share similar future outcomes of interest (e.g., adverse events, the onset of comorbidities). To encourage each cluster to have homogeneous future outcomes, the clustering is carried out by learning discrete representations that best describe the future outcome distribution based on novel loss functions. Experiments on two real-world datasets show that our model achieves superior clustering performance over state-of-the-art benchmarks and identifies meaningful clusters that can be translated into actionable information for clinical decision-making.
Progress of machine learning in critical care has been difficult to track, in part due to absence of public benchmarks. Other fields of research (such as computer vision and natural language processing) have established various competitions and public benchmarks. Recent availability of large clinical datasets has enabled the possibility of establishing public benchmarks. Taking advantage of this opportunity, we propose a public benchmark suite to address four areas of critical care, namely mortality prediction, estimation of length of stay, patient phenotyping and risk of decompensation. We define each task and compare the performance of both clinical models as well as baseline and deep learning models using eICU critical care dataset of around 73,000 patients. This is the first public benchmark on a multi-centre critical care dataset, comparing the performance of clinical gold standard with our predictive model. We also investigate the impact of numerical variables as well as handling of categorical variables on each of the defined tasks. The source code, detailing our methods and experiments is publicly available such that anyone can replicate our results and build upon our work.
Visual summarization of clinical data collected on patients contained within the electronic health record (EHR) may enable precise and rapid triage at the time of patient presentation to an emergency department (ED). The triage process is critical in the appropriate allocation of resources and in anticipating eventual patient disposition, typically admission to the hospital or discharge home. EHR data are high-dimensional and complex, but offer the opportunity to discover and characterize underlying data-driven patient phenotypes. These phenotypes will enable improved, personalized therapeutic decision making and prognostication. In this work, we focus on the challenge of two-dimensional patient projections. A low dimensional embedding offers visual interpretability lost in higher dimensions. While linear dimensionality reduction techniques such as principal component analysis are often used towards this aim, they are insufficient to describe the variance of patient data. In this work, we employ the newly-described non-linear embedding technique called uniform manifold approximation and projection (UMAP). UMAP seeks to capture both local and global structures in high-dimensional data. We then use Gaussian mixture models to identify clusters in the embedded data and use the adjusted Rand index (ARI) to establish stability in the discovery of these clusters. This technique is applied to five common clinical chief complaints from a real-world ED EHR dataset, describing the emergent properties of discovered clusters. We observe clinically-relevant cluster attributes, suggesting that visual embeddings of EHR data using non-linear dimensionality reduction is a promising approach to reveal data-driven patient phenotypes. In the five chief complaints, we find between 2 and 6 clusters, with the peak mean pairwise ARI between subsequent training iterations to range from 0.35 to 0.74.