1. Division of Biomedical Informatics Beyond Interoperability: What Ontology Can Do for the EHR William R. Hogan, MD, MS July 30 th, 2011 International Conference on Biomedical Ontology

2. Beyond Interoperability We all understand the importance of ontology for interoperability But, ontology may also: – Help our information technology departments get dates correct – Improve the science and practice of diagnosis – Enable healthcare reform

3. Definitions Disease* A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. Diagnosis* A conclusion of an interpretive process that has as input a clinical picture of a given patient and as output an assertion to the effect that the patient has a disease of such and such a type. Diagnostic process – the interpretive process… * Scheuermann RH, Ceusters W, and Smith B. Toward an ontological treatment of disease and diagnosis. Proceedings, AMIA Translational Summit, 2009.

4. Definitions Disease* A disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism. Diagnosis* A conclusion of an interpretive process that has as input a clinical picture of a given patient and as output an assertion to the effect that the patient has a disease of such and such a type. Diagnostic process/act – the interpretive process… * Scheuermann RH, Ceusters W, and Smith B. Toward an ontological treatment of disease and diagnosis. Proceedings, AMIA Translational Summit, 2009. The key point is to distinguish clearly among: 1.The entity observed 2.A record of the observation 3.The process of observing

5. Why Distinguishing Thing vs. Record of Thing Matters What does “effective” date mean? Date record of allergy started to exist in source system (first row)? Or date allergy started to exist (second row)? What does “effective” date mean? Date record of allergy started to exist in source system (first row)? Or date allergy started to exist (second row)?

6. Another Example At 6:02p, we got a measurement of TSH concentration as it existed at 2p. 1.We sort by “collected” to see state of patient evolve over time. 2.We sort by “resulted” to see what results came back recently. Some results take days or weeks after collection! 1.We sort by “collected” to see state of patient evolve over time. 2.We sort by “resulted” to see what results came back recently. Some results take days or weeks after collection!

7. The Problem of Diagnostic Error According to one review*, rate is 2-15% – Varies by specialty, care setting, and disease – Significant cause of adverse events (~8-17%) – Leading or 2 nd leading cause of malpractice claims Diagnosticians are overconfident in wrong diagnoses* *Berner ES, Graber ML. Overconfidence as a cause of diagnostic error in medicine. Am J Med. 2008;121(5A):S2-S23.

8. Current EHR Support for Diagnosis Retrieval and display of data/information about the patient Capture output of diagnostic process as: – Narrative text – Billing ICD codes – “Problem list”

9. Current EHR Support for Diagnosis Retrieval and display of data/information about the patient Capture output of diagnostic process as: – Narrative text – Billing ICD codes – “Problem list” In other words, the EHR supplies input to, and captures the output of, the diagnostic process, but leaves out everything in between!

10. No Tracking of Diseases DiagnosisDateDiagnosis (NOT disease) id Joint pain07-08-20092ab8ef2c Arthritis07-10-2009cb13fc4d Gout07-20-20093ced432c

11. No Tracking of Diseases DiagnosisDateDiagnosis (NOT disease) id Joint pain07-08-20092ab8ef2c Arthritis07-10-2009cb13fc4d Gout07-20-20093ced432c All three diagnoses refer to the same disease, but there are no links! No disease gets a unique identifier, only records of diseases (diagnoses)

12. Referent Tracking, Diseases, and Diagnoses DiagnosisDateDiagnosis idDisease id Arthritis07-08-20092ab8ef2c8f5a94b2 Osteo- arthritis 07-10-2009cb13fc4d8f5a94b2 Gout07-20-20093ced432c8f5a94b2

13. DiagnosisDateDiagnosis idDisease id Arthritis07-08-20092ab8ef2c8f5a94b2 Osteo- arthritis 07-10-2009cb13fc4d8f5a94b2 Gout07-20-20093ced432c8f5a94b2 Referent Tracking, Diseases, and Diagnoses Aha! A misdiagnosis? Or a different disease (which needs a new id)?

14. Healthcare Reform: Episodes of Care 557207/04/201126442006closed fracture of shaft of femur 557207/04/201181134009Fracture, closed, spiral 557207/21/201126442006closed fracture of shaft of femur PtIDDateSNOMED CT codeNarrative With thanks to Werner Ceusters, University at Buffalo IUI-001 Previous fracture, or new fracture? A new fracture would mean we start another episode of care, if we are to count fractures and the outcomes of treating them appropriately!!!

15. Acknowledgements The Referent Tracking Team Ceusters, Manzoor, Tariq, Garimalla, et al. OGMS Community Award numbers 1UL1RR029884 and 3 P20 RR016460-08S1 from the National Center for Research Resources The content is solely the responsibility of the author and does not necessarily represent the official views of the National Center for Research Resources or the National Institutes of Health. 15