1. Referent Tracking: Towards Semantic Interoperability and Knowledge Sharing Barry Smith Ontology Research Group Center of Excellence in Bioinformatics and Life Sciences University at Buffalo Institute for Formal Ontology and Medical Information Science Saarland University

2. 2 Referent Tracking Unit (RTU), Buffalo Director: Werner Ceusters New ways for achieving semantic interoperability amongst healthcare applications Unique identification of anything described Development of referent tracking system back-end BFO-based data repository for the wider Buffalo area www.org.buffalo.edu/RTU

3. 3 Links http://org.buffalo.edu/RTU/ http://sourceforge.net/projects/rtsystem

4. 4 The myth of ‘unambiguous’ understanding through biomedical terminologies 557204/07/199026442006closed fracture of shaft of femur 557204/07/199081134009Fracture, closed, spiral 557212/07/199026442006closed fracture of shaft of femur 557212/07/19909001224Accident in public building (supermarket) 557204/07/199079001Essential hypertension 093924/12/1991255174002benign polyp of biliary tract 230921/03/199226442006closed fracture of shaft of femur 230921/03/19929001224Accident in public building (supermarket) 4780403/04/199358298795Other lesion on other specified region 557217/05/199379001Essential hypertension 29822/08/19932909872Closed fracture of radial head 29822/08/19939001224Accident in public building (supermarket) 557201/04/199726442006closed fracture of shaft of femur 557201/04/199779001Essential hypertension PtIDDateObsCodeNarrative 093920/12/1998255087006malignant polyp of biliary tract * * * * cause, not disorder How many disorders have patients 5572, 2309 and 298 each had thus far in their lifetime ? How many numerically different disorders are listed here ? How many different types of disorders are listed here ?

5. 5 Does seeing the labels help you ? 557204/07/199026442006closed fracture of shaft of femur 557204/07/199081134009Fracture, closed, spiral 557212/07/199026442006closed fracture of shaft of femur 557212/07/19909001224Accident in public building (supermarket) 557204/07/199079001Essential hypertension 093924/12/1991255174002benign polyp of biliary tract 230921/03/199226442006closed fracture of shaft of femur 230921/03/19929001224Accident in public building (supermarket) 4780403/04/199358298795Other lesion on other specified region 557217/05/199379001Essential hypertension 29822/08/19932909872Closed fracture of radial head 29822/08/19939001224Accident in public building (supermarket) 557201/04/199726442006closed fracture of shaft of femur 557201/04/199779001Essential hypertension PtIDDateObsCodeNarrative 093920/12/1998255087006malignant polyp of biliary tract Same patient, same hypertension code: Same (numerically identical) hypertension ? Different patients, same fracture codes: Same (numerically identical) fracture ? Same patient, different dates, same fracture codes: same (numerically identical) fracture ? Same patient, same date, 2 different fracture codes: same (numerically identical) fracture ? Same patient, different dates, Different codes. Same (numerically identical) polyp ? Different patients. Same supermarket? Maybe the same freezer section ? Or different supermarkets, but always in the freezer sections ?

6. 6 Use of IUI’s does ! 557204/07/199026442006closed fracture of shaft of femur 557204/07/199081134009Fracture, closed, spiral 557212/07/199026442006closed fracture of shaft of femur 557212/07/19909001224Accident in public building (supermarket) 557204/07/199079001Essential hypertension 093924/12/1991255174002benign polyp of biliary tract 230921/03/199226442006closed fracture of shaft of femur 230921/03/19929001224Accident in public building (supermarket) 4780403/04/199358298795Other lesion on other specified region 557217/05/199379001Essential hypertension 29822/08/19932909872Closed fracture of radial head 29822/08/19939001224Accident in public building (supermarket) 557201/04/199726442006closed fracture of shaft of femur 557201/04/199779001Essential hypertension PtIDDateObsCodeNarrative 093920/12/1998255087006malignant polyp of biliary tract IUI-001 IUI-003 IUI-004 IUI-005 IUI-007 IUI-002 IUI-012

7. 7 ‘John Doe’s ‘John Smith’s liver tumor was treated with RPCI’s irradiation device’ ‘John Doe’s liver tumor was treated with RPCI’s irradiation device’ Representation principles #1 #3 #2 #4 #5 #6 treating person liver tumor clinic device instance-of at t 1 #10 #30 #20 #40 #5 #6 inst-of at t 2 inst-of at t 2 inst-of at t 2 inst-of at t 2 inst-of at t 2

8. 8 Application principles #IUI-1 ‘affects’ #IUI-2 #IUI-3 ‘affects’ #IUI-2 #IUI-1 ‘causes’ #IUI-3 Referent Tracking Database EHR CAG repeat Juvenile HD person disorder continuant Ontology

9. 9 Goal: new form of Evidence-Based Medicine Now: –Decisions based on (motivated/justified by) the outcomes of (reproducible) results of well-designed studies Guidelines and protocols –Evidence is hard to get, takes time to accumulate. Future: –Each discovered fact or expressed belief should instantly become available as contributing to ‘evidence’, wherever its description is generated. –Data ‘eternally’ reusable independent of the purpose for which they have been generated.

10. 10 Current RT services Analysis of data dictionairies, database schemas and database models for ontological adequacy; Assessment of compatibility of EHR systems with the Referent Tracking paradigm; Curation of biomedical terminologies, ontologies and controlled vocabularies; Support in database merging and mapping in line with ontological principles; Ontology support for clinical trials

11. 11 The RT-Laden Future Everyone will be able to use their own terminology and their own EHR coding scheme, just as before Providing they allow software to generate IUIs for the entities referred to –these different schemes will become automatically mapped –outliers of different sorts will become automatically detectable –the result will be a single cumulatively evolving multi- lingual system of annotated health information