1. www.landc.be 1 Using ontology in query answering systems: scenarios, requirements and challenges Werner Ceusters a, Barry Smith b, Maarten Van Mol a a Language & Computing nv (L&C) b Institute for Formal Ontology and Medical Information Science

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3. www.landc.be 3 L&C’s LinkSuite Tm

4. www.landc.be 4 Presentation overview 1.Clinical Question Answering (QA) a)kinds of questions b)question analysis resources c)possible answer sources 2.Role of Ontology 3.State of the Art in QA at L&C

5. www.landc.be 5 Clinicians’ Questions What is the dose of metformin? What is the proper treatment of gastro-oesophageal reflux disease (GERD)? What should I use for atopic dermatitis? How common is depression after infectious mononucleosis? What is the name of that rash that diabetics get on their legs? Is it ethical for me to take care of my own file clerk, who has back pain and wants a work excuse? (Jerome Ely et al., BMJ 2002)

6. www.landc.be 6 OHSUMED –60 year old menopausal woman without hormone replacement therapy Are there adverse effects on lipids when progesterone is given with estrogen replacement therapy ? –60 yo male with disseminated intravascular coagulation pathophysiology and treatment of disseminated intravascular coagulation ? –88 yo with subdural reviews on subdurals in elderly ? –58 yo with cancer and hypercalcemia effectiveness of etidronate in treating hypercalcemia of malignancy ? –55 yo female,postmenopausal does estrogen replacement therapy cause breast cancer ? W. R. Hersh, C. Buckley, T. J. Leone, and D. H. Hickam. OHSUMED: an interactive retrieval evaluation and new large test collection for research. In: Proceedings of the 17th Annual International ACM Special Interest Group in Information Retrieval. Dublin, Ireland: Springer-Verlag, 1994:192--201.

7. www.landc.be 7 Clinical questions & answers Physicians spend less than 2 minutes on average seeking an answer to a question. (Ely et al., BMJ 1999) Most clinical questions remain unanswered. (Alper et al., J Fam Pract 2001) Doctors are overwhelmed by the amount of information available, yet they often cannot answer their questions about specific clinical problems. (Ely et al., BMJ 2002)

8. www.landc.be 8 Main obstacles to answering doctors’ questions about patient care The excessive time required to find information Difficulty modifying the original question Difficulty selecting an optimal strategy to search for information decide which resources will be most helpful; search in which order; which articles to read thoroughly; how thoroughly Failure of a seemingly appropriate resource to cover the topic Uncertainty about how to know when all the relevant evidence has been found so that the search can stop Inadequate synthesis of multiple bits of evidence into a clinically useful statement (e.g. conflicting evidence) (Ely et al., BMJ 2002)

9. www.landc.be 9 Are such questions important ? 0.42 unanswered questions are generated per patient- physician contact, of which the majority sufficiently important that an answer might lead to different advice or treatment »Mark H. Ebell and Linda White. What is the best way to gather clinical questions from physicians? J Med Libr Assoc. 2003 July; 91 (3): 364-366. in the United States between 44,000 and 98,000 people are killed every year from medical errors total cost of preventable medical mistakes, including lost wages and extra health costs, are estimated to lie between $17 billion and $29 billion a year »Institute of Medicine "To Err Is Human: Building A Safer Health System.". December 1999.

10. www.landc.be 10 Can they be answered by a QA system ? Influencing factors: –how easy/difficult to analyse the questions ? question patterns availability of analysis resources –is there a right answer ? –can the right answer be found ? availability of answer resources how easy/difficult to analyse these resources ?

11. www.landc.be 11 What is the proper treatment of gastro-oesophageal reflux disease ? [Which-X]-(properly treats)-[GERD] –is this easy pattern general ? –is clinical terminology a problem for QA systems ? –does the “properly” adverb make it hard to answer the question since it is a request for a judgement ?

12. www.landc.be 12 Clinicians’ Questions : templates Jerome Ely e.a. A taxonomy of generic clinical questions: classification study. BMJ 2000;321 429-432.

13. www.landc.be 13 100 oral pathology questions from medical students Quels signes caractérisent un lichen plan? Which signs characterize a lichen planus? Quelle mesure diagnostique une adénopathie? Which test diagnoses an adenopathy? Doit-on traiter les atteintes buccales du lichen plan? Must one treat oral lesions of lichen planus? P. Jacquemart and P. Zweigenbaum. 2003. Towards a medical question-answering system: a feasibility study. In Pierre Le Beux and Robert Baud, editors,Proceedings Medical Informatics Europe, Amsterdam. IOS Press 2003; 463-468.

14. www.landc.be 14 Syntactic-semantic patterns Semantic ModelNr of synsem patterns Nr of questions 1[which X]-(r)-[B]2439 [A]-(r)-[which Y]1729 2does [A]-(r)-[B]1217 3why [A]-(r)-[B]45 4[which X, Y]-(r)-[B]11 5[which X]-(r)-[B, C]33 6duration [A]-(precedes)-[B]22 7define [A]12 8which specific precaution if [A]-(r)-[B]11 total66100 P. Jacquemart and P. Zweigenbaum. 2003. Table 1.

15. www.landc.be 15 Possible answer sources

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17. www.landc.be 17 Ear: The seed-bearing spike of a cereal plant, such as corn

18. www.landc.be 18 Judgement questions  clinical guidelines

19. www.landc.be 19 CG for ingrown toenails

20. www.landc.be 20 A wealth of clinical terminology resources UMLS Knowledge Sources: UMLS Metathesaurus ® –includes SNOMED-CT in 2004 (US restricted license) SPECIALIST Lexicon UMLS Semantic Network

21. www.landc.be 21 UMLS Semantic Types EntityEvent Language Organisation Group Attribute Idea or Concept Finding Organism Attribute Intellectual Product Occupation Or Discipline Group Substance Organism Anatomical Structure Manufactured Object Behaviour Daily or Recreational activity Occupational Activity Machine Actiivty Laboratory Procedure Diagnostic Procedure Therapeutic Procedure Individual Behaviour Social Behaviour Health care Activity Research Activity Educational Activity Governmental or Regulatory Activity Injury or Poisoning Natural Phenomenon Or Process Human-caused Phenomenon Or Process Environment Effect of Humans PhysicalObject Conceptual Entity Phenomenon Or Process Activity Biologic Function Physiologic Function Pathologic Function Organ or Tissue Function Organism Function Mental Process Cell Function Molecular Function Genetic Function Disease or Syndrome Mental or Behavioural Dysfunction Neoplastic Process Cell or Molecular Dysfunction Experimental Model of Disease

22. www.landc.be 22 Semantic Net: 54 Links Spatially RelatedTo Has_locationAdjacent_toSurrounded_byTraversed_byPhysically RelatedTo Has_partConstitutes Contained_inConnected_to Interconnected_by Has_branch Has_tributary Has_ingredient Temporally RelatedTo follows co-occurs_with brought_about_by has_manifestation indicated_by has_result Functionally RelatedTo affected_by managed_by treated_by disrupted_by complicated_by interacted_with prevented_by used-by produced_by caused_by performed_bycarried_out_by exhibited_by practiced_by has_occurrencehas_process Conceptually RelatedTo has_degreediagnosed_by has_property has_derivative has_developmental_form has_measurement measured_by has_evaluation has_method has_conceptual_part has_issue analyzed_byAssessed_for_effect_by

23. www.landc.be 23 The MetaThesaurus For each unique concept… –All the string variants that share that meaning But NB: more synset than true synonymy And where that string came from –A text definition of the concept (if exists) –The semantic type –Relationship with other concepts in sources Parent-of, child-of, broader-than, can-qualify etc –A ragbag of other properties E.g. is an ICD entry term

24. www.landc.be 24 Foundational Model of Anatomy Rosse, C. and Shapiro, L. G. and Brinkley, J. F. (1998) The Digital Anatomist Foundational Model: Principles for Defining and Structuring Its Concept Domain.

25. www.landc.be 25 Characteristics of clinical “terminologies” large collections of term lists synonyms, preferred terms semantic neigbourhood taxonomy parthood machine interpretable formal “ontologically” sound

26. www.landc.be 26 Current expectations on clinical question analysis patterns may considered to be relatively simple pragmatic education can keep them simple –ask questions simply instead of ask simple questions clinical guidelines are available but difficult to analyse required terminologies are available, but good understanding of the kind of knowledge they contain is required

27. www.landc.be 27 Ontology

28. www.landc.be 28 “Ontology” in the QA Roadmap Document (1) Study models of question processing based on ontologies and knowledge bases. (p8 + 5x) [ontologies]-(which R)-[knowledge bases] typical in this collocation: ontology as (constraint) model of KB KB contains facts (about instances) or rules

29. www.landc.be 29 “Ontology” in the QA Roadmap Document (2) p13: Very problematic “=“ sign !!! true: operating system “IS A” software product false: drivers “IS A” operating system

30. www.landc.be 30 “Ontology” in the QA Roadmap Document (3) p13: 6/ Integration of contextual knowledge into and from world knowledge and special purpose ontologies as well as axiomatic knowledge. p20: 4/ Develop knowledge bases and ontologies that contain concepts that are language- independent (interlingua type of hierarchies, linked to concepts or words in other languages than English).

31. www.landc.be 31 The O-word N. Guarino, P. Giaretta, "Ontologies and Knowledge Bases: Towards a Terminological Clarification". In Towards Very Large Knowledge Bases: Knowledge Building and Knowledge Sharing, N. Mars (ed.), pp 25-32. IOS Press, Amsterdam, 1995.

32. www.landc.be 32 If, later, you can remember just one thing of this representation, then make sure it is this one: If you use the word “ontology”, ALWAYS be specific about what you understand by it.

33. www.landc.be 33 a for a computer understable representation of some pre-existing domain of REALITY, reflecting the properties of the objects within its domain in such a way that there obtain substantial and systematic correlations between reality and the ontology itself. modified from Barry Smith L&C’s understanding of an ontology to be used by software (agents) in a machine, and NOT by humans does not rely on what people know or think, hence no “concepts” instance driven, although it accepts universals that are not instanciated does not “create” or “constrain” reality The T-Box has no meaning without the A-Box

34. www.landc.be 34 BFO/MedO Basic Formal Ontology consists in a series of sub-ontologies (most properly conceived as a series of perspectives on reality), the most important of which are: –SnapBFO, a series of snapshot ontologies (O ti ), indexed by times –SpanBFO a single videoscopic ontology (O v ). Each O ti is an inventory of all entities existing at a time. O v is an inventory (processory) of all processes unfolding through time.

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37. www.landc.be 37 Question Answering Systems at L&C

38. www.landc.be 38 Technology overview structuredtext LinKFactory Server MaDBoKS TeSSI indexer Information Extraction System LinKFactory Client

39. www.landc.be 39 LinKBase Formal Domain Ontology Lexicon Grammar Language A Lexicon Grammar Language B Cassandra Linguistic Ontology MEDDRA ICD SNOMED ICPC Others... Proprietary Terminologies

40. www.landc.be 40 Based on formal ontology HAS- PARTIAL- SPATIAL- OVERLAP IS- TOPO- INSIDE- OF IS-GEO- INSIDE- OF IS- INSIDE- CONVEX- HULL-OF IS-PARTLY- IN-CONVEX- HULL-OF IS- OUTSIDE- CONVEX- HULL-OF HAS- DISCONNECTED- REGION HAS- EXTERNAL- CONNECTING- REGION HAS-DISCRETED- REGION HAS- TANG.- SPAT.- PART HAS-NON- TANG.- SPAT.- PART IS- SPAT.- EQUIV.- OF IS- TANG.- SPAT.- PART-OF IS-NON- TANG.- SPAT.- PART-OF HAS- PROPER- SPATIAL -PART IS- PROPER- SPAT.- PART-OF HAS- SPATIAL -PART IS- SPATIAL -PART- OF HAS- OVERLAPPING -REGION HAS- CONNECTING- REGION HAS-SPATIAL- POINT- REFERENCE

41. www.landc.be 41 Example: joint anatomy joint HAS-HOLE joint space joint capsule IS-OUTER-LAYER-OF joint meniscus –IS-INCOMPLETE-FILLER-OF joint space –IS-TOPO-INSIDE joint capsule –IS-NON-TANGENTIAL-MATERIAL-PART-OF joint joint –IS-CONNECTOR-OF bone X –IS-CONNECTOR-OF bone Y synovia –IS-INCOMPLETE-FILLER-OF joint space synovial membrane IS-BONAFIDE- BOUNDARY-OF joint space

42. www.landc.be 42 Linking external ontologies MESH-2001 : “Seizures” MESH-2001 : “Convulsions” Snomed-RT : “Convulsion” Snomed-RT : “Seizure” L&C : ConvulsionL&C : Seizure L&C : Health crisis L&C : Epileptic convulsion IS-A IS-narrower-than ISA Has-CCC

43. www.landc.be 43 Linguistic and domain ontologies Having a healthcare phenomenon Generalised Possession Healthcare phenomenon Human IS-A Has- possessor Has- possessed Patient Is-possessor-of Cancer patient IS-A Has-Healthcare- phenomenon Malignant neoplasm IS-A 1 1 1 2 2 3 3 lung carcinoma IS-A Mr. Kovács has a pulmonary carcinoma

44. www.landc.be 44 TeSSI Indexing

45. www.landc.be 45 Information Extraction

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48. www.landc.be 48 Web-based ontology refinement 1.concept investigated 2.Information used for relevance assessment 3.new terms found 4.context of new terms 5.relevant documents 1 2 3 4 5

49. www.landc.be 49 Concluding remarks