The study of adverse childhood experiences and their consequences has emerged over the past 20 years. In this study, we aimed to leverage explainable artificial intelligence, and propose a proof-of-concept prototype for a knowledge-driven evidence-based recommendation system to improve surveillance of adverse childhood experiences. We used concepts from an ontology that we have developed to build and train a question-answering agent using the Google DialogFlow engine. In addition to the question-answering agent, the initial prototype includes knowledge graph generation and recommendation components that leverage third-party graph technology. To showcase the framework functionalities, we here present a prototype design and demonstrate the main features through four use case scenarios motivated by an initiative currently implemented at a children hospital in Memphis, Tennessee. Ongoing development of the prototype requires implementing an optimization algorithm of the recommendations, incorporating a privacy layer through a personal health library, and conducting a clinical trial to assess both usability and usefulness of the implementation. This semantic-driven explainable artificial intelligence prototype can enhance health care practitioners ability to provide explanations for the decisions they make.
Background: Adverse Childhood Experiences (ACEs), a set of negative events and processes that a person might encounter during childhood and adolescence, have been proven to be linked to increased risks of a multitude of negative health outcomes and conditions when children reach adulthood and beyond. Objective: To better understand the relationship between ACEs and their relevant risk factors with associated health outcomes and to eventually design and implement preventive interventions, access to an integrated coherent dataset is needed. Therefore, we implemented a formal ontology as a resource to allow the mental health community to facilitate data integration and knowledge modeling and to improve ACEs surveillance and research. Methods: We use advanced knowledge representation and Semantic Web tools and techniques to implement the ontology. The current implementation of the ontology is expressed in the description logic ALCRIQ(D), a sublogic of Web Ontology Language (OWL 2). Results: The ACEs Ontology has been implemented and made available to the mental health community and the public via the BioPortal repository. Moreover, multiple use-case scenarios have been introduced to showcase and evaluate the usability of the ontology in action. The ontology was created to be used by major actors in the ACEs community with different applications, from the diagnosis of individuals and predicting potential negative outcomes that they might encounter to the prevention of ACEs in a population and designing interventions and policies. Conclusions: The ACEs Ontology provides a uniform and reusable semantic network and an integrated knowledge structure for mental health practitioners and researchers to improve ACEs surveillance and evaluation.
Treatment recommendations within Clinical Practice Guidelines (CPGs) are largely based on findings from clinical trials and case studies, referred to here as research studies, that are often based on highly selective clinical populations, referred to here as study cohorts. When medical practitioners apply CPG recommendations, they need to understand how well their patient population matches the characteristics of those in the study cohort, and thus are confronted with the challenges of locating the study cohort information and making an analytic comparison. To address these challenges, we develop an ontology-enabled prototype system, which exposes the population descriptions in research studies in a declarative manner, with the ultimate goal of allowing medical practitioners to better understand the applicability and generalizability of treatment recommendations. We build a Study Cohort Ontology (SCO) to encode the vocabulary of study population descriptions, that are often reported in the first table in the published work, thus they are often referred to as Table 1. We leverage the well-used Semanticscience Integrated Ontology (SIO) for defining property associations between classes. Further, we model the key components of Table 1s, i.e., collections of study subjects, subject characteristics, and statistical measures in RDF knowledge graphs. We design scenarios for medical practitioners to perform population analysis, and generate cohort similarity visualizations to determine the applicability of a study population to the clinical population of interest. Our semantic approach to make study populations visible, by standardized representations of Table 1s, allows users to quickly derive clinically relevant inferences about study populations.
Of the 2652 articles considered, 106 met the inclusion criteria. Review of the included papers resulted in identification of 43 chronic diseases, which were then further classified into 10 disease categories using ICD-10. The majority of studies focused on diseases of the circulatory system (n=38) while endocrine and metabolic diseases were fewest (n=14). This was due to the structure of clinical records related to metabolic diseases, which typically contain much more structured data, compared with medical records for diseases of the circulatory system, which focus more on unstructured data and consequently have seen a stronger focus of NLP. The review has shown that there is a significant increase in the use of machine learning methods compared to rule-based approaches; however, deep learning methods remain emergent (n=3). Consequently, the majority of works focus on classification of disease phenotype with only a handful of papers addressing extraction of comorbidities from the free text or integration of clinical notes with structured data. There is a notable use of relatively simple methods, such as shallow classifiers (or combination with rule-based methods), due to the interpretability of predictions, which still represents a significant issue for more complex methods. Finally, scarcity of publicly available data may also have contributed to insufficient development of more advanced methods, such as extraction of word embeddings from clinical notes. Further efforts are still required to improve (1) progression of clinical NLP methods from extraction toward understanding; (2) recognition of relations among entities rather than entities in isolation; (3) temporal extraction to understand past, current, and future clinical events; (4) exploitation of alternative sources of clinical knowledge; and (5) availability of large-scale, de-identified clinical corpora.
Knowledge-based biomedical data science (KBDS) involves the design and implementation of computer systems that act as if they knew about biomedicine. Such systems depend on formally represented knowledge in computer systems, often in the form of knowledge graphs. Here we survey the progress in the last year in systems that use formally represented knowledge to address data science problems in both clinical and biological domains, as well as on approaches for creating knowledge graphs. Major themes include the relationships between knowledge graphs and machine learning, the use of natural language processing, and the expansion of knowledge-based approaches to novel domains, such as Chinese Traditional Medicine and biodiversity.