1. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U AMIA 2006 Panel: The Future of HL7 Referent Tracking through HL7 ? Washington, DC, USA. November 14, 2006 Werner CEUSTERS Center of Excellence in Bioinformatics and Life Sciences University at Buffalo, NY, USA http://www.org.buffalo.edu/RTU

2. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U America’s future www.sfpix.com/health_saturdays/Heal_sat1.html

3. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Evolution of Obesity in the US Morbidity and Mortality Weekly Report. September 15, 2006 / Vol. 55 / No. 36.

4. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Worldwide HL7-membership www.justmadethisup.ru United States

5. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Puzzle There seems to be a striking correlation between the increase in obesity incidence and HL7 activity.

6. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Before solving that puzzle: My short personal history 1959 -... 1977 1989 1992 1998 2002 2004

7. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Since April 2006 Center of Excellence in Bioinformatics & Life Sciences Buffalo, NY

8. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Buffalo ???? Are you out of your mind ???

9. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Well, … I might be crazy … but I’m not stupid.

10. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Correlation versus Causality AB X

11. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U My hypothesis about HL7 and Obesity HL7Obesity causes

12. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Argument 1: Advice from the Surgeon General ‘The Nation must take an informed, sensitive approach to communicate with and educate the American people about health issues related to overweight and obesity.’ ‘ACTION: The Nation must take action to assist Americans in balancing healthful eating with regular physical activity.’ http://www.surgeongeneral.gov/topics/obesity/calltoaction/fact_vision.htm physical activity

13. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Argument 2: HL7 says … ‘The truth about the real world is constructed through a combination (and arbitration) of such attributed statements only, and there is no class in the RIM whose objects represent "objective state of affairs" or "real processes” independent from attributed statements. As such, there is no distinction between an activity and its documentation.’

14. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Therefore: Americans think that watching sports is as good as doing sports …

15. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U... or reading about sports

16. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U What is the problem ? ‘A message to mapmakers: highways are not painted red, rivers don't have county lines running down the middle, and you can't see contour lines on a mountain.’ William Kent, Data and Reality. First published by North Holland in 1978. Republished in 1998 by 1stBooks.

17. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U What HL7 lacks: a realist view of the world 1.The world exists ‘as it is’ prior to a cognitive agent’s perception thereof; 2.Cognitive agents build up through observations cognitive representations of the world; 3.To make these representations publicly accessible in some enduring fashion, these agents create representational artifacts that are fixed in some medium. Smith B, Kusnierczyk W, Schober D, Ceusters W. Towards a Reference Terminology for Ontology Research and Development in the Biomedical Domain. Proceedings of KR-MED 2006, November 8, 2006, Baltimore MD, USA

18. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U But beware ! These concretizations are NOT supposed to be the representations of these cognitive representations; “concept representation” (Despite the fact there is an IMIA WG on this) We should not be in the business of

19. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U But beware ! These concretizations are NOT supposed to be the representations of these cognitive representations; They are representations of the corresponding parts of reality –They are like the images taken by means of a high quality camera;

20. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U They are not (or should not be) like the paintings of Salvador Dali Non-canonical (although nice looking) anatomy

21. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U The sad consequences … Too much focus on ‘concepts’, information models, data models, … Hence the many mistakes in concept-based terminologies; Also many ambiguities in electronic patient records in which such terminologies are used.

22. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U A widespread misconception ‘A variety of clinical terminology standards exist in the health care system, giving meaning to raw data and allowing for semantic interoperability. Systemized Nomenclature of Medicine (SNOMED) clinical terms are one example of a clinical reference terminology that provides for semantic interoperability.’ Pharmacotherapy. 2005;25(8):1116-1125.

23. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U 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 Three references of hypertension for the same patient denote three times the same disease. If two different fracture codes are used in relation to observations made on the same day for the same patient, they might refer to the same fracture The same type of location code used in relation to three different events might or might not refer to the same location. If the same fracture code is used for the same patient on different dates, then these codes might or might not refer to the same fracture. The same fracture code used in relation to two different patients can not refer to the same fracure. If two different tumor codes are used in relation to observations made on different dates for the same patient, they may still refer to the same tumor. Using codes does not prevent ambiguities as to what is described: how many disorders are listed?

24. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Consequences Very difficult to: –Count the number of (numerically) different diseases Bad statistics on incidence, prevalence,... Bad basis for health cost containment –Relate (numerically the same or different) causal factors to disorders: –Dangerous public places (specific work floors, swimming pools), –dogs with rabies, –HIV contaminated blood from donors, –food from unhygienic source,... Hampers prevention –...

25. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Purpose: –explicit reference to the concrete individual entities relevant to the accurate description of each patient’s condition, therapies, outcomes,... Proposed Solution: Referent Tracking Now! That should clear up a few things around here ! Ceusters W, Smith B. Strategies for Referent Tracking in Electronic Health Records. J Biomed Inform. 2006 Jun;39(3):362-78.

26. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U 78 Numbers instead of words Method: –Introduce an Instance Unique Identifier (IUI) for each relevant particular (individual) entity

27. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U ‘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’ The principle of Referent Tracking #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

28. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U EHR – Ontology “collaboration”

29. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Advantage: better reality representation 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 IUI-006 7 distinct disorders

30. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Does HL7 support this ?

31. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U At first sight: yes Definition of Entity: –A physical thing, group of physical things or an organization capable of participating in Acts, while in a role. Entity.id:: SET (0..*) –Definition: A unique identifier for the Entity.

32. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U On closer inspection: no ! (just one example) Discussion: –An entity is a physical object that has, had or will have existence. Rationale (under determinerCode): –An Entity may at times represent information … This does not need to be a problem if for each entity it is specified whether it is a ‘first order’ thing in reality or an information object (‘second order’ entities are also real!)

33. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U So what is uniquely identified and how ? The double confusion in HL7-RIM –X = information about X –X = observation of X But clearly, the following entities are all distinct: –The pimple on my nose; –The observing of the pimple on my nose by that man; –That man asserting the existence of the pimple on my nose; –The information-object in the record which refers to the pimple on my nose; –…

34. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Some claim: all these distinctions are in HL7 ‘In HL7, we assert that Peter has a UML symbol with an object instance identifier assigned to "his disease" that includes an instance identifier assigned to his "type of disease".’ But then: ‘Once consensus builds around the subject of concern, the patient can be said to "have" a specific disease. It can be said that "over time" the UML symbol instance identifier for the "concern" becomes the UML symbol instance identifier for the "disease.”’

35. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Who is then sick: the clinician or the patient ? ‘In HL7, we assert that Peter has a UML symbol with an object instance identifier assigned to "his disease" that includes an instance identifier assigned to his "type of disease".’ But then: ‘Once consensus builds around the subject of concern, the patient can be said to "have" a specific disease. It can be said that "over time" the UML symbol instance identifier for the "concern" becomes the UML symbol instance identifier for the "disease.”’

36. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U I’m not stupid, but why don’t I understand this? Advice given: ‘You might study Charles Peirce's work on observation. It underlies much of the 20th century scientific methodology including the study of semiotics. The engineers who have studied Pierce or his students as part of their engineering studies seem to take to UML very easily. Those that don't, seem to have trouble with the concept of symbol manipulation and instance identifier assignment.’

37. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U Well, I did, and what do I read ? One singular deception which often occurs, is to mistake the sensation produced by our own unclearness of thought for a character of the object we are thinking of. Instead of perceiving that the obscurity is purely subjective, we fancy that we contemplate a quality of the object which is essentially mysterious. C. S. Peirce, How to Make our Ideas Clear. Popular Science Monthly 12 (January 1878), 286-302

38. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U There is hope … My question: What kind of identifiers is the RIM using and what kind of identifiers go in HL7 messages. And moreover, what kind of identifiers are used in what place in object-oriented paradigms, UML- objects, etc. There is a big confusion here !

39. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U The answer We agree very strongly in this area. I have been suggesting for many years that these proxy identifiers not be used as "object instance identifiers." Fortunately, more HL7 V3 people are beginning to agree and the ii datatype will soon allow us to differentiate between proxy instance identifiers and the truly arbitrary object instance identifiers known as UUID, GUID, or other similar constructs.

40. New York State Center of Excellence in Bioinformatics & Life Sciences R T U New York State Center of Excellence in Bioinformatics & Life Sciences R T U But at least until then … is a Picasso interpretation of a Dali painting HL7-RIM