Clinical Terminology for Personalized Medicine

Clinical terminology for personalized medicine: Deploying a common concept model for SNOMED CT

and LOINC Observables in service of genomic medicine

James R Campbell MD

The inventory of ONC clinical terminologies specified by the Interoperability Standard Advisory includes

LOINC for laboratory tests and SNOMED CT for clinical conditions. LOINC codes have been developed

for a large number of molecular pathology tests but LOINC employs a concept model that is

underspecified relative to the complexity of genomic data; therefore there is no computable

relationship between test results and diagnostic conclusions. SNOMED CT is to be employed for coded

observation results but currently has a paucity of content in the realm of personalized medicine.

For the past 9 years IHTSDO and Regenstrief have been developing a shared concept model which is

designed to unify the domain of Observable entities and support interoperation between the EHR,

clinical laboratories and public health. Application of a shared concept model in genetics could support

interoperation of data between clinical Observables, Observation results and Conditions.

This presentation will explain the convergent concept model for Observables, discuss the application of

the model to genomic observations and conditions, and present an applied project in terminology

development for molecular pathology in cancer medicine underway at the University of Nebraska.