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Item A computable pathology report for precision medicine: extending an observables ontology unifying SNOMED CT and LOINC(Oxford, 2017-09-13) Campbell, Walter S; Karlsson, Daniel; Vreeman, Daniel J; Lazenby, Audrey J; Talmon, Geoffrey A; Campbell, James R; Medicine, School of MedicineBackground The College of American Pathologists (CAP) introduced the first cancer synoptic reporting protocols in 1998. However, the objective of a fully computable and machine-readable cancer synoptic report remains elusive due to insufficient definitional content in Systematized Nomenclature of Medicine – Clinical Terms (SNOMED CT) and Logical Observation Identifiers Names and Codes (LOINC). To address this terminology gap, investigators at the University of Nebraska Medical Center (UNMC) are developing, authoring, and testing a SNOMED CT observable ontology to represent the data elements identified by the synoptic worksheets of CAP. Methods Investigators along with collaborators from the US National Library of Medicine, CAP, the International Health Terminology Standards Development Organization, and the UK Health and Social Care Information Centre analyzed and assessed required data elements for colorectal cancer and invasive breast cancer synoptic reporting. SNOMED CT concept expressions were developed at UNMC in the Nebraska Lexicon© SNOMED CT namespace. LOINC codes for each SNOMED CT expression were issued by the Regenstrief Institute. SNOMED CT concepts represented observation answer value sets. Results UNMC investigators created a total of 194 SNOMED CT observable entity concept definitions to represent required data elements for CAP colorectal and breast cancer synoptic worksheets, including biomarkers. Concepts were bound to colorectal and invasive breast cancer reports in the UNMC pathology system and successfully used to populate a UNMC biobank. Discussion The absence of a robust observables ontology represents a barrier to data capture and reuse in clinical areas founded upon observational information. Terminology developed in this project establishes the model to characterize pathology data for information exchange, public health, and research analytics.Item A corpus-based approach for automated LOINC mapping(Oxford University Press, 2014-01-01) Fidahussein, Mustafa; Vreeman, Daniel J.; Department of Medicine, IU School of MedicineObjective To determine whether the knowledge contained in a rich corpus of local terms mapped to LOINC (Logical Observation Identifiers Names and Codes) could be leveraged to help map local terms from other institutions. Methods We developed two models to test our hypothesis. The first based on supervised machine learning was created using Apache's OpenNLP Maxent and the second based on information retrieval was created using Apache's Lucene. The models were validated by a random subsampling method that was repeated 20 times and that used 80/20 splits for training and testing, respectively. We also evaluated the performance of these models on all laboratory terms from three test institutions. Results For the 20 iterations used for validation of our 80/20 splits Maxent and Lucene ranked the correct LOINC code first for between 70.5% and 71.4% and between 63.7% and 65.0% of local terms, respectively. For all laboratory terms from the three test institutions Maxent ranked the correct LOINC code first for between 73.5% and 84.6% (mean 78.9%) of local terms, whereas Lucene's performance was between 66.5% and 76.6% (mean 71.9%). Using a cut-off score of 0.46 Maxent always ranked the correct LOINC code first for over 57% of local terms. Conclusions This study showed that a rich corpus of local terms mapped to LOINC contains collective knowledge that can help map terms from other institutions. Using freely available software tools, we developed a data-driven automated approach that operates on term descriptions from existing mappings in the corpus. Accurate and efficient automated mapping methods can help to accelerate adoption of vocabulary standards and promote widespread health information exchange.Item Supporting interoperability of genetic data with LOINC(Oxford, 2015) Deckard, Jamalynne; McDonald, Clement J.; Vreeman, Daniel J.; Department of Medicine, IU School of MedicineElectronic reporting of genetic testing results is increasing, but they are often represented in diverse formats and naming conventions. Logical Observation Identifiers Names and Codes (LOINC) is a vocabulary standard that provides universal identifiers for laboratory tests and clinical observations. In genetics, LOINC provides codes to improve interoperability in the midst of reporting style transition, including codes for cytogenetic or mutation analysis tests, specific chromosomal alteration or mutation testing, and fully structured discrete genetic test reporting. LOINC terms follow the recommendations and nomenclature of other standards such as the Human Genome Organization Gene Nomenclature Committee’s terminology for gene names. In addition to the narrative text they report now, we recommend that laboratories always report as discrete variables chromosome analysis results, genetic variation(s) found, and genetic variation(s) tested for. By adopting and implementing data standards like LOINC, information systems can help care providers and researchers unlock the potential of genetic information for delivering more personalized care.