Terminology Needs in Clinical Decision Support. Samson Tu Senior Research Scientist Center for Biomedical Informatics Research Stanford University

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Terminology Needs in Clinical Decision Support Samson Tu Senior Research Scientist Center for Biomedical Informatics Research Stanford University 11th International Protégé Conference Workshop Amsterdam, Netherlands 2009/06/23 Acknowledgement The work described here includes contributions from James R. Campbell, MD, Julie Glasgow, MD, Mark A Nyman, MD, Robert McClure, MD, James McClay, MD, Craig Parker, MD, MS, Karen M. Hrabak, MSN, RNC, David Berg, Tony Weida, PhD, James G. Mansfield, PhD, Mark A. Musen, MD, PhD, Robert M. Abarbanel, MD, PhD This work was partially supported by grant 70NANB1H3049 of the U.S. National Institute of Standards and Technology, Advanced Technology Program. The Protégé resource is supported by Grant P41 LM007885 from the National Library of Medicine. 11th International Protégé Conference Workshop Amsterdam, Netherlands 2009/06/23

Outline Context: Clinical decision support for guideline-based care Need for terminology content Diagnostic: Finding, Therapeutic: Drug Need for terminology services 11th International Protégé Conference Workshop Amsterdam, Netherlands 2009/06/23 Clinical decision support for guideline-based care: SAGE Project Collaborative research and development project to develop a standards-based technology to enable encoding and dissemination of guidelines in executable format deployment technology will present guideline content to clinicians through active, patient-specific recommendations SAGE was partially supported under a grant from the U.S. Department of Commerce, National Institute of Standards and Technology, Advanced Technology Program, Cooperative Agreement Number 70NANB1H3049. 11th International Protégé Conference Workshop Amsterdam, Netherlands 2009/06/23

Immunization Schedule Activating Content recommendations integrated into a nurse care flowsheet View suggested orders Process suggested orders Real time access to reference information

JNC VII for Management of Hypertension ATHENA HTN advisory

SAGE Encoding Process 3. Distill Logic 5. Formalize Vocabulary Inventory 1. Assemble Source s 4. Define Concepts 6. Specify Information Queries 2. Envision Clinical Scenarios Installation and Execution 7. Encode Knowledgebase Tu, S. W., M. A. Musen, et al. (2004). "Modeling guidelines for integration into clinical workflow." Stud Health Technol Inform 107(Pt 1): 174-8. Clarifying Concept Definition 4. Define Concepts Anatomic or functional asplenia? Clinical Definition Congenital asplenia Congenital hypoplasia of spleen Splenectomy Splenic atrophy Sickle cell disease

Functional or anatomic asplenia Clinical Definition Congenital asplenia Congenital hypoplasia of spleen Splenectomy Splenic atrophy Sickle cell disease 5. Formalize Vocabulary Inventory SNOMED CT Concept 93030006 93292008 234319005 (Procedure) 82893001 127040003 (Hemoglobin S disease) Are Subclasses OK? Specialization of terms part of definition is a Clinical finding is a 5. Formalize Vocabulary Inventory Procedure... Splenectomy Congenital absence of spleen (A) Splenic atrophy (B) Congenital hypoplasia of spleen (C) Hb SS disease (D) Functional asplenia Bilateral rightsidedness sequence Hereditary splenic hypoplasia Functional or anatomic asplenia = A or B or C or D Sickle cell anemia with high hemoglobin F

What do the concepts mean in terms of available data? 6. Specify Information Queries Functional or anatomic asplenia is Presence of clinical finding at any time Congenital asplenia or Congenital hypoplasia of spleen or Splenic atrophy or Sickle cell disease OR Record of splenectomy in the past 11th International Protégé Conference Workshop Amsterdam, Netherlands 2009/06/23 Sometimes Have to Define Terms through Post- Coordination Suprarenal Artery Embolus 297143008 or Pre-Coordinated Post-Coordinated Occlusion of Artery 2929001 Associated Morphology 116676008 Embolus 55584005 Finding Site 363698007 Suprarenal Artery 89500000 14

Reviewing Concept Inventory: Binding to Standard Vocabulary A term used in a guideline may correspond to A single term in a standard vocabulary A term and its is-a descendants A Boolean (AND, OR, NOT) combination of terms and its is-a descendants A post-coordinated term Rules of using terminologies with information models should be clear e.g., HL7 Terminfo project harmonizing HL7 RIM with SNOMEDCT Use of SNOMED CT in Immunization Terminology Hrabak KM, Campbell JR, Tu SW, McClure R, Weida T. Creating Interoperable s: Requirements of Vocabulary Standards in Immunization Decision Support. In: Medinfo; 2007; Brisbane, Australia; 2007. 11th International Protégé Conference Workshop Amsterdam, Netherlands 2009/06/23

Drug Vocabulary Needs for Support of Clinical s Karen Hrabak MS Jim Campbell MD University of Nebraska Medical Center Identified Issues Encoding of antihypertensive medications needed to support the Diabetes guideline No standard drug terminology available Evaluation of available reference terminologies necessary SNOMED CT and NDF-RT candidate terminologies

Requirements for Drug Encoding Drug superclass identification (i.e. thiazide diuretics) Identification of clinical/therapeutic indications Entities for ordered drug calculation (i.e. units and strength) Clinical drug form (ingredient AND form or strength) Semantic Analysis Which reference terminology will provide subsumption for decision logic needs of the guideline Compare SNOMED CT and NDF-RT Identify strengths and deficiencies

Drug Resources VII Joint National Committee: Anti-hypertensive drugs Classes Usual dose ranges Micromedex: Clinical drug forms Results: Drug Superclass Drug superclass agrees with JNC 7 category: SNOMED CT: 72% NDF-RT: 60%

Therapeutic Indications Comparison Specific reference as hypotensive agent or treating hypertension SNOMED CT Therapeutic Superclass NDF-RT Roles Therapeutic Indications: SNOMED CT SNOMED CT: classification as a hypotensive agent Is_a description

SNOMED CT Hypotensive Agent Classification Therapeutic Indications: NDF-RT NDF-RT maintains information in several different roles: Has_MoA (mechanism of action) Has_PE (physiologic effect) May_treat hypertension

NDF-RT Antihypertensives Classification NDF-RT may_treat Hypertension

Results Therapeutic Indications Classification SNOMED CT: 45% NDF-RT: 90% Comparison: Dosing Data Presence in reference terminology: Drug ingredient Drug strength Drug units

Dosage Calculation Results Dosage calculation NDF-RT: 97% present for data set SNOMED CT: Not present

Summary Results of Analysis Drug Class Identification Therapeutic Indication Dosage Calculation SNOMED 72% 45% 0% NDF-RT 60% 90% 97% SNOMED CT Analysis Drug superclass identification: 72% Therapeutic indications: 45% Subsumption capabilities Dosaging capabilities absent

NDF-RT Analysis May_treat hypertension role: 90% Drug Class Identification: 60% Clinical drug forms: 97% Combining semantic roles (may_treat, MoA, and PE): 98% Discussion... SNOMED CT and NDF-RT have different and complementary strengths Solution for needs of SAGE encoding

Plan for Encoding Augment NDF-RT subsumption with needed categories of interest Use Runtime classification tool to create new concepts Store concepts in the local SAGE namespace SAGE Encoding Process 3. Formalize Logic 5. Formalize Vocabulary Inventory 1. Assemble Source s 4. Define Concepts 6. Specify Information Queries 2. Envision Clinical Scenarios Installation and Execution 7. Encode Knowledgebase Tu, S. W., M. A. Musen, et al. (2004). "Modeling guidelines for integration into clinical workflow." Stud Health Technol Inform 107(Pt 1): 174-8.

Terminology Services for Encoding Defining new concepts Post coordination Concept expressions (Boolean combinations) editor Support for concept browsing and selection 11th International Protégé Conference Workshop Amsterdam, Netherlands 2009/06/23 Concept Expressions Arbitrary subsets of taxonomies Defined with logical operators A and (not B) and (not D) A B C D E F G 11th International Protégé Conference Workshop Amsterdam, Netherlands H I J 2009/06/23

Apelon Expression Editor 11th International Protégé Conference Workshop Amsterdam, Netherlands 2009/06/23 DTS Plug-in for Browsing External Terminologies Terminology services Browse, search and inspect concepts Standards: SNOMED, LOINC Emerging terminologies: NDF-RT Extensions proposed by SAGE Map selected concepts to Protégé classes Protégé DTS plug-in 11th International Protégé Conference Workshop Amsterdam, Netherlands DTS Server 2009/06/23

invoke Apelon DTS plugin Apelon DTS Plugin Search Concept details

SAGE Encoding Process 3. Formalize Logic 5. Formalize Vocabulary Inventory 1. Assemble Source s 4. Define Concepts 6. Specify Information Queries 2. Envision Clinical Scenarios Installation and Execution 7. Encode Knowledgebase Tu, S. W., M. A. Musen, et al. (2004). "Modeling guidelines for integration into clinical workflow." Stud Health Technol Inform 107(Pt 1): 174-8. The guideline has been encoded. Now what? Download Medical Staff Review Edit for Local Conditions Map Standard to Local Terminologies Activate 46

Mapping Terminologies Map Standard to Local Terminologies Diabetes Mellitus Type II: SNOMED-CT 73211009 Standards-based coded content in SAGE Must be Mapped To In the local CIS: Problem Master Table Sequence # 1056 Codes and terminologies used in host CIS * Mapping typically is more complex than this example: usually is bi-directional may be 1-to-many 47 Mapping Terminologies Map Standard to Local Terminologies VMR Context Problem Problem Problem Observation Observation From concept SNOMED: 73211009 SNOMED: 46635009 SNOMED: 44054006 LOINC: 25514-1 LOINC: 5195-3 From concept label Mayo label Mayo lab code Mayo Concept Diabetes mellitus DM 2202566 Diabetes mellitus type 1 Diabetes mellitus type 2 Rubella Virus Ab Hepatitis B Virus Surface Ag DM type 1 2202569 DM type 2 2202567 Rubella Abs, IgG Only, S Hepatitis Bs Ag (HBsAg),S Hepatitis Bs Ag (HBsAg) 8172- ROCLIS 9013- ROCLIS 2622- ROCLIS 6109703 6102663 6101226

SAGE Deployment System Execution Architecture Encoded Event Listener Event Notifications SAGE Execution Engine Data Query Service Calls Action Service Calls VMR Interface Local Modifications Binding Clinical Information System Terminology Functions Terminology Server data 49 Runtime Terminology Services Mapping (if guideline KB not reformulated in local terms) Subsumption checking 11th International Protégé Conference Workshop Amsterdam, Netherlands 2009/06/23

Summary For encoding decision support domain terminology Rigorous subsumption hierarchies Mechanisms for defining new terms Orthogonality with information model Mechanism for user-defined abstractions For encoding & localizing decision support knowledge Browsing, searching & selecting terms from terminologies Mechanisms for specifying mapping to local terminologies For run-time application Terminology mapping Subsumption checking 51