1. Oncology in SNOMED CT NCI Workshop The Role of Ontology in Big Cancer Data Session 3: Cancer big data and the Ontology of Disease Bethesda, Maryland May 13, 2015 Olivier Bodenreider Lister Hill National Center for Biomedical Communications Bethesda, Maryland - USA

2. 2 Disclaimer  “The views and opinions expressed do not necessarily state or reflect those of the U.S. Government, and they may not be used for advertising or product endorsement purposes”

3. 3 SNOMED CT and oncology  SNOP (~1965) Systematized Nomenclature of Pathology Systematized Nomenclature of Pathology  SNOMED International (~1990) Morphology and topology harmonized with the International Classification of Diseases for Oncology (ICD-O) Morphology and topology harmonized with the International Classification of Diseases for Oncology (ICD-O)  SNOMED CT (~2000) General clinical terminology General clinical terminology

4. 4 Breast cancer in SNOMED CT http://browser.ihtsdotools.org/

5. 5 Breast cancer in SNOMED CT

6. 6 Main types of cancer-related entities associated finding No family history: breast carcinoma “situation” Carcinoma of breast disorders associated morphology Malignant epithelial neoplasm – category morphologic abnormality

7. 7 Types of cancer-related entities   Sarcoma lower inner quadrant of female breast   T3: Breast tumor >5 cm in greatest dimension   CAP Cancer Checklist; Breast: Excision Less Than…   Suspected breast cancer   BRCA1 mutation carrier detection test   Breast cancer type 1 susceptibility protein   Tumor-node-metastasis (TNM) breast tumor staging   Distance of tumor from closest surgical margin (breast)   Mental adjustment to cancer scale   Nottingham histologic grading system

8. 8 Coverage (pre-coordinated) CategoryTop-level concept# descendants DisorderMalignant neoplastic disease3449 FindingTumor finding1562 Record artifactPathology report71 Situation- Family history of neoplasm - History of neoplasm 57 91 1.75% of SNOMED CT concepts are directly related to cancer

9. 9 Coverage (post-coordinated)  Compositional grammar Based on the SNOMED CT “concept model” Based on the SNOMED CT “concept model”  “Refinement” of existing concepts Specific morphology Specific morphology Primary vs. secondary Primary vs. secondary Specific anatomical structure Specific anatomical structure Laterality Laterality  E.g., Family history of breast carcinoma in the mother

10. 10 Coverage (relations)

11. 11

12. 12 Use cases  Clinical documentation  Clinical research Secondary use of data / observational research Secondary use of data / observational research  Cohort selection For clinical quality measures (“Meaningful Use”) For clinical quality measures (“Meaningful Use”) For clinical research For clinical research  Clinical decision support

13. 13 https://vsac.nlm.nih.gov/

14. 14 SNOMED CT in the U.S.  International release developed by IHTSDO 27 member countries, including U.S. 27 member countries, including U.S.  NLM is the U.S. National Release Center Distribute international release (UMLS license) Distribute international release (UMLS license) Released in January and July Released in January and July Develop the U.S. extension / U.S. edition Develop the U.S. extension / U.S. edition Released in March and September Released in March and September Take requests for changes or new concepts / terms Take requests for changes or new concepts / terms U.S. SNOMED CT Content Request System (USCRS) U.S. SNOMED CT Content Request System (USCRS) https://uscrs.nlm.nih.gov/ https://uscrs.nlm.nih.gov/ https://uscrs.nlm.nih.gov/ E.g., cancer staging concepts added for clinical quality measures E.g., cancer staging concepts added for clinical quality measures

15. 15 Challenges  Keep it simple (or hide complexity) Reproducible representation (ontology developer) Reproducible representation (ontology developer) Reproducible annotation (ontology user) Reproducible annotation (ontology user)  Interoperability between biological and clinical data Clinical data is Big Data Clinical data is Big Data Necessary for translational research Necessary for translational research

16. Medical Ontology Research Olivier Bodenreider Lister Hill National Center for Biomedical Communications Bethesda, Maryland - USA Contact:Web:olivier@nlm.nih.govmor.nlm.nih.gov