journal of biomedical informatics
All submissions of the EM system will be redirected to Online Manuscript Submission System. Authors are requested to submit articles directly to Online Manuscript Submission System of respective journal.

Development of LOINC for Integrating Constitutional Cytogenetic Test Result Reports into Electronic Health Records

Author(s): Yan Heras, Arthur R. Brothman, Marc S. Williams, Joyce A. Mitchell, Clement J. McDonald, Stanley. Huff

Objective: To develop Logical Observation Identiers Names and Codes (LOINC) codes to represent constitutional cytogenetic test results for electronically exchanging coded and structured result reports. The LOINC codes developed must be exible and sustainable for easy maintenance. The goal is to create a standard set of codes that are exible enough to be used for all unique conventional and molecular cytogenetic results.

Design: Patient de-identied sample result reports were obtained from ARUP Laboratories for a variety of normal and abnormal constitutional studies using G-banding, FISH and array-CGH. Information models were created to capture the semantic relationships of the key data elements that existed in the reports. Sample reports were subsequently obtained from Emory and Mayo Clinic Cytogenetics Laboratories to verify the information models. The information models were then used to guide the systematic creation of the LOINC codes.

Results: A post-coordinated approach was used in developing the LOINC codes for cytogenetics test results. LOINC panel codes were created to represent the hierarchical structures implied by the reports. A master panel was created to contain three LOINC subpanels; each of the three subpanels held the structure for chromosome analysis results that uses a dierent technique.

Conclusion: The LOINC codes we created met our objective and will allow the use of well established health informatics standards to exchange coded and structured cytogenetic test results between testing laboratories and ordering institutions. Use of standard structures and terminologies for cytogenetic results is critical for eective communication between testing laboratories and clinicians. This minimizes misinterpretation, leads to consistency, and provides the EHR systems exibility of customizing formatting to present more clinician-friendly reports.