A critical component of the Federal architecture for the Nationwide Health Information Network is the Electronic Health Record (EHR) employing structured clinical data encoded with Office of the National Coordinator (ONC) standard reference terminologies that support interoperable repurposing of the data for research and public health. These reference terminologies, including SNOMED CT and RXNORM, are large and complex, thereby complicating and historically limiting terminology implementation in support of big data research objectives. This research and development proposal seeks to: a) expand the scope and clinical applicability of these terminologies, b) create metadata tooling in support of ONC reference terminology deployment in clinical data repositories (CDR) and c) assess the utility of that deployment for organizing tissue biobanks and supporting networked research queries. Metadata and software tooling will be developed and made available to the biomedical research community through the National Center for Biomedical Ontologies (NCBO). The harmonization of SNOMED CT and LOINC in the domain of observable entities is an important unification of ONC clinical ontologies. This project will expedite this harmonization to include the domains of anatomic pathology, molecular genetics and microbiology and create an observables ontology for distribution through the NCBO. Distribution and implementation of an observables ontology will facilitate research that binds patient phenomic data with disease specific genomic observations in support of research into the genetic basis of disease. The observables ontology will be tested within an i2b2-based CDR in the areas of breast cancer and antimicrobial stewardship. The Patient Centered Outcome Research Initiative (PCORI) seeks to provide timely answers to the research questions of our day by standardizing datasets across research institutions. While employing a common clinical data model, efficient and interoperable query of data employing ONC reference terminologies requires expanded information models, coordination between EHR vendors and shared network protocols. This proposal will deploy the ONC reference terminology metadata including the observables ontology to members of the Greater Plains Consortium (GPC) PCORnet CDRN. Breast cancer and antimicrobial stewardship queries will be deployed between collaborating GPC members for testing of interoperability and demonstration of network functionality.

Public Health Relevance

A reference terminology metadata development project including software implementation tooling. Observable ontology development for anatomic pathology, microbiology and molecular genetics. Tooling designed for use within clinical data warehouses.

Agency
National Institute of Health (NIH)
Institute
National Human Genome Research Institute (NHGRI)
Type
Research Project--Cooperative Agreements (U01)
Project #
5U01HG009455-02
Application #
9356544
Study Section
Special Emphasis Panel (ZRG1)
Program Officer
Sofia, Heidi J
Project Start
2016-09-22
Project End
2019-06-30
Budget Start
2017-07-01
Budget End
2018-06-30
Support Year
2
Fiscal Year
2017
Total Cost
Indirect Cost
Name
University of Nebraska Medical Center
Department
Pathology
Type
Schools of Medicine
DUNS #
168559177
City
Omaha
State
NE
Country
United States
Zip Code
68198
Campbell, Walter S; Karlsson, Daniel; Vreeman, Daniel J et al. (2017) A computable pathology report for precision medicine: extending an observables ontology unifying SNOMED CT and LOINC. J Am Med Inform Assoc :
Campbell, James R; Talmon, Geoffrey; Cushman-Vokoun, Allison et al. (2016) An Extended SNOMED CT Concept Model for Observations in Molecular Genetics. AMIA Annu Symp Proc 2016:352-360