CONAN: Complementary Pattern Augmentation for Rare Disease Detection

Rare diseases affect hundreds of millions of people worldwide but are hard to detect since they have extremely low prevalence rates (varying from 1/1,000 to 1/200,000 patients) and are massively underdiagnosed. How do we reliably detect rare diseases with such low prevalence rates? How to further leverage patients with possibly uncertain diagnosis to improve detection? In this paper, we propose a Complementary pattern Augmentation (CONAN) framework for rare disease detection. CONAN combines ideas from both adversarial training and max-margin classification. It first learns self-attentive and hierarchical embedding for patient pattern characterization. Then, we develop a complementary generative adversarial networks (GAN) model to generate candidate positive and negative samples from the uncertain patients by encouraging a max-margin between classes. In addition, CONAN has a disease detector that serves as the discriminator during the adversarial training for identifying rare diseases. We evaluated CONAN on two disease detection tasks. For low prevalence inflammatory bowel disease (IBD) detection, CONAN achieved .96 precision recall area under the curve (PR-AUC) and 50.1% relative improvement over best baseline. For rare disease idiopathic pulmonary fibrosis (IPF) detection, CONAN achieves .22 PR-AUC with 41.3% relative improvement over the best baseline

Steering a Historical Disease Forecasting Model Under a Pandemic: Case of Flu and COVID-19

Forecasting influenza in a timely manner aids health organizations and policymakers in adequate preparation and decision making. However, effective influenza forecasting still remains a challenge despite increasing research interest. It is even more challenging amidst the COVID pandemic, when the influenza-like illness (ILI) counts are affected by various factors such as symptomatic similarities with COVID-19 and shift in healthcare seeking patterns of the general population. Under the current pandemic, historical influenza models carry valuable expertise about the disease dynamics but face difficulties adapting. Therefore, we propose CALI-Net, a neural transfer learning architecture which allows us to 'steer' a historical disease forecasting model to new scenarios where flu and COVID co-exist. Our framework enables this adaptation by automatically learning when it should emphasize learning from COVID-related signals and when it should learn from the historical model. Thus, we exploit representations learned from historical ILI data as well as the limited COVID-related signals. Our experiments demonstrate that our approach is successful in adapting a historical forecasting model to the current pandemic. In addition, we show that success in our primary goal, adaptation, does not sacrifice overall performance as compared with state-of-the-art influenza forecasting approaches.Comment: Appears in AAAI-2

Explaining by Imitating: Understanding Decisions by Interpretable Policy Learning

Understanding human behavior from observed data is critical for transparency and accountability in decision-making. Consider real-world settings such as healthcare, in which modeling a decision-maker's policy is challenging -- with no access to underlying states, no knowledge of environment dynamics, and no allowance for live experimentation. We desire learning a data-driven representation of decision-making behavior that (1) inheres transparency by design, (2) accommodates partial observability, and (3) operates completely offline. To satisfy these key criteria, we propose a novel model-based Bayesian method for interpretable policy learning ("Interpole") that jointly estimates an agent's (possibly biased) belief-update process together with their (possibly suboptimal) belief-action mapping. Through experiments on both simulated and real-world data for the problem of Alzheimer's disease diagnosis, we illustrate the potential of our approach as an investigative device for auditing, quantifying, and understanding human decision-making behavior

KindMed: Knowledge-Induced Medicine Prescribing Network for Medication Recommendation

Extensive adoption of electronic health records (EHRs) offers opportunities for its use in various clinical analyses. We could acquire more comprehensive insights by enriching an EHR cohort with external knowledge (e.g., standardized medical ontology and wealthy semantics curated on the web) as it divulges a spectrum of informative relations between observed medical codes. This paper proposes a novel Knowledge-Induced Medicine Prescribing Network (KindMed) framework to recommend medicines by inducing knowledge from myriad medical-related external sources upon the EHR cohort, rendering them as medical knowledge graphs (KGs). On top of relation-aware graph representation learning to unravel an adequate embedding of such KGs, we leverage hierarchical sequence learning to discover and fuse clinical and medicine temporal dynamics across patients' historical admissions for encouraging personalized recommendations. In predicting safe, precise, and personalized medicines, we devise an attentive prescribing that accounts for and associates three essential aspects, i.e., a summary of joint historical medical records, clinical condition progression, and the current clinical state of patients. We exhibited the effectiveness of our KindMed on the augmented real-world EHR cohorts, etching leading performances against graph-driven competing baselines