Diseasomics: Actionable machine interpretable disease knowledge at the point-of-care

PLOS Digit Health. 2022 Oct 20;1(10):e0000128. doi: 10.1371/journal.pdig.0000128. eCollection 2022 Oct.


Physicians establish diagnosis by assessing a patient's signs, symptoms, age, sex, laboratory test findings and the disease history. All this must be done in limited time and against the backdrop of an increasing overall workload. In the era of evidence-based medicine it is utmost important for a clinician to be abreast of the latest guidelines and treatment protocols which are changing rapidly. In resource limited settings, the updated knowledge often does not reach the point-of-care. This paper presents an artificial intelligence (AI)-based approach for integrating comprehensive disease knowledge, to support physicians and healthcare workers in arriving at accurate diagnoses at the point-of-care. We integrated different disease-related knowledge bodies to construct a comprehensive, machine interpretable diseasomics knowledge-graph that includes the Disease Ontology, disease symptoms, SNOMED CT, DisGeNET, and PharmGKB data. The resulting disease-symptom network comprises knowledge from the Symptom Ontology, electronic health records (EHR), human symptom disease network, Disease Ontology, Wikipedia, PubMed, textbooks, and symptomology knowledge sources with 84.56% accuracy. We also integrated spatial and temporal comorbidity knowledge obtained from EHR for two population data sets from Spain and Sweden respectively. The knowledge graph is stored in a graph database as a digital twin of the disease knowledge. We use node2vec (node embedding) as digital triplet for link prediction in disease-symptom networks to identify missing associations. This diseasomics knowledge graph is expected to democratize the medical knowledge and empower non-specialist health workers to make evidence based informed decisions and help achieve the goal of universal health coverage (UHC). The machine interpretable knowledge graphs presented in this paper are associations between various entities and do not imply causation. Our differential diagnostic tool focusses on signs and symptoms and does not include a complete assessment of patient's lifestyle and health history which would typically be necessary to rule out conditions and to arrive at a final diagnosis. The predicted diseases are ordered according to the specific disease burden in South Asia. The knowledge graphs and the tools presented here can be used as a guide.