Semantic Integration of Clinical Laboratory Tests from Electronic Health Records for Deep Phenotyping and Biomarker Discovery
Xingmin Aaron Zhang,
Nicole A Vasilevsky,
Leigh C Carmody,
Marcin P Joachimiak,
Emily R Pfaff,
Nephi A Walton,
Melissa A Haendel,
Daniel J Vreeman,
David B Peden,
Christopher G Chute,
Peter N. Robinson
Posted 13 Jan 2019
bioRxiv DOI: 10.1101/519231 (published DOI: 10.1038/s41746-019-0110-4)
Posted 13 Jan 2019
Electronic Health Record (EHR) systems typically define laboratory test results using the Laboratory Observation Identifier Names and Codes (LOINC) and can transmit them using Fast Healthcare Interoperability Resource (FHIR) standards. LOINC has not yet been semantically integrated with computational resources for phenotype analysis. Here, we provide a method for mapping LOINC-encoded laboratory test results transmitted in FHIR standards to the Human Phenotype Ontology (HPO) terms. We annotated the medical implications of 2421 commonly used laboratory tests with HPO terms. Using these annotations, a software assesses laboratory test results and converts each into an HPO term. We validated our approach with EHR data from 15,681 patients with respiratory complaints and identified known biomarkers for asthma. Finally, we provide a freely available SMART on FHIR application that can be used within EHR systems. Our approach allows reusing readily available laboratory tests in EHR for deep phenotyping and using the hierarchical structure of HPO for association studies with medical outcomes and genomics.
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