cardiotoronto.pps
TRANSCRIPT
New York State Center of Excellence in Bioinformatics & Life Sciences
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CHSS Data Center Work Weekend
Ontology, Terminology, and Cardiovascular Surgery
Nov 21, 2008 – Toronto, Canada
Werner CEUSTERS, MD Center of Excellence in Bioinformatics and Life Sciences, and National Center for Biomedical Ontology, University at Buffalo, NY, USA
New York State Center of Excellence in Bioinformatics & Life Sciences
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Short personal history
1959 - 20081977
1989
1992
1998
2002
2004
2006
19931995
New York State Center of Excellence in Bioinformatics & Life Sciences
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Structure of this presentation
• Data and where they (should) come from
• Realism-based ontology
• Referent Tracking
• How to build ontologies from terminologies
• How to link to patient data
• How can disparate views been accommodated
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The central hypothesis
• For disease registries to facilitate meaningful multi-institutional outcomes analysis, there must be:
1. Common language = nomenclature,2. Mechanism of data collection (database or registry) with an
established uniform core data set,3. Mechanism of evaluating case complexity,4. Mechanism to ensure and verify data completeness and
accuracy,5. Collaboration between medical subspecialties.
JP Jacobs et.al. Nomenclature and Databases — The Past, the Present, and the Future: A Primer for the Congenital Heart Surgeon. Pediatr Cardiol (2007)
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Would this do ?
• For disease registries to facilitate meaningful multi-institutional outcomes analysis, there must be:
1. Whatever sort of Common language = nomenclature,2. Whatever sort of Mechanism of data collection (database or
registry) with an established uniform core data set,3. Whatever sort of Mechanism of evaluating case complexity,4. Whatever sort of Mechanism to ensure and verify data
completeness and accuracy,5. Whatever sort of Collaboration between medical
subspecialties.
?
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The answer is clearly …
• … No !
• There are – many such animals – of various sorts, – which all have shortcomings,– and therefore lead to the creation of even more such
animals,– which finally end up suffering – more or less - from the
same flaws.
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Alagille SyndromeAortic CoarctationArrhythmogenic RV DysplasiaCor Triatriatum...
Aortic CoarctationArrhythmogenic RV DysplasiaCor Triatriatum...
Alagille SyndromeAortic CoarctationArrhythmogenic RV DysplasiaCor Triatriatum...
Mesh 2008: congenital heart defectsAll MeSH Categories
Diseases Category Cardiovascular Diseases
Cardiovascular Abnormalities Heart Defects, Congenital
All MeSH Categories Diseases Category
Congenital, Hereditary, and Neonatal Diseases and Abnormalities
Congenital Abnormalities Cardiovascular Abnormalities
Heart Defects, Congenital
All MeSH Categories Diseases Category
Cardiovascular Diseases Heart Diseases
Heart Defects, Congenital
?
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SNOMED-CT version 2008.01.7AC
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SNOMED-CT’s‘Fallot’s trilogy’
versus ‘Fallot’s triad’
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Trilogy of Fallot• Definition:
– Combination of pulmonary valve stenosis and atrial septal defect with right ventricular hypertrophy.
• Typical representational mistake:– From (correctly, if the definition is right) :
• ‘a patient which has Fallot’s triad– has a pulmonary valve stenosis, – has an atrial septal defect,– has a right ventricular hypertrophy.’
– To (wrong, even if the definition is right) :• ‘a Fallot’s triad
– is a pulmonary valve stenosis, – is an atrial septal defect,– is a right ventricular hypertrophy.’
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In general: some alarming publications
• Why most published research findings are false. Ioannidis JPA (2005). PLoS Med 2(8): e124.– Institute for Clinical Research and Health Policy Studies, Department of
Medicine, Tufts-New England Medical Center, Tufts University School of Medicine, Boston, Massachusetts.
• Why Current Publication Practices May Distort Science. Young NS, Ioannidis JPA, Al-Ubaydli O (2008, October 7) PLoS Med 5(10): e201. doi:10.1371/journal.pmed.0050201.– Hematology Branch, National Heart, Lung, and Blood Institute, National
Institutes of Health, Bethesda, Maryland,
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Key question:
Why is this ?
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‘The spectrum of the Health Sciences’
http://www.uvm.edu/~ccts
Turning data in knowledge
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What is missing here ?
http://www.uvm.edu/~ccts
?Turning data in knowledge
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Source of all data
Reality !
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Today’s data generation and use
observation &measurement
dataorganization
model development
use
add
Genericbeliefs
verify
further R&D(instrument and
study optimization)
application
Δ = outcome
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Key components
data information
knowledgehypotheses
• Players• HIT• Outcomes
generates
generates
generates
influences
representationreality about
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Current deficiencies• At the level of reality:
– Desired outcomes different for distinct players• Competing interests
– Multitude of HIT applications and paradigms• At the level of representations:
– Variety of formats– Silo formation– Doubtful semantics
• In their interplay:– Very poor provenance or history keeping– No formal link with that what the data are about– Low quality
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Where should we go?
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Ultimate goal (at least mine)
A digital copy of the world
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Requirements for this digital copy
• R1: A faithful representation of reality• R2 … of everything that is digitally registered,
what is generic scientific theories
what is specific what individual entities exist and how they relate
• R3: … throughout reality’s entire history,• R4 … which is computable in order to …
… allow queries over the world’s past and present,
… make predictions,
… fill in gaps,
… identify mistakes,
...
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In fact … the ultimate crystal ball
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The ‘binding’ wall
How to do it right ?
A cartoon of the world
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Major problems
1. A mismatch between what is - and has been - the case in reality, and representations thereof in:
a) (generic) Knowledge repositories, and
b) (specific) Data and Information repositories.
2. An inadequate integration of a) and b).
Solutions
Philosophicalrealism
Realism-based Ontology
Referent Tracking
Philosophy
HIT
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Realism-based Ontology
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‘Ontology’: one word, two meanings• In philosophy:
– Ontology (no plural) is the study of what entities exist and how they relate to each other;
• In computer science and (biomedical informatics) applications:– An ontology (plural: ontologies) is a shared and agreed upon
conceptualization of a domain;
• Our ‘realist’ view within the Ontology Research Group combines the two:– We use realism, a specific theory of ontology, as the basis for
building high quality ontologies, using reality as benchmark.
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Realism-based ontology
• Basic assumptions:1. reality exists objectively in itself, i.e. independent of
the perceptions or beliefs of cognitive beings;
2. reality, including its structure, is accessible to us, and can be discovered through (scientific) research;
3. the quality of an ontology is at least determined by the accuracy with which its structure mimics the pre-existing structure of reality.
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However: the dominant view in Comp Sc is conceptualism
SemanticTriangle
concept
object term
Embedded inTerminology
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The concept-based view
P P P PP P P P
P P P P
isa class
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The realism-based view
P P P PP P P P
P P P P
universal
instance-of
extension-of
member-of class
Defined class
e.g. human
e.g. all humans
e.g. all humans in this room
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Ontology
universal
P P P PP P P P
P P P P
instance-of
extension-of
member-of class
Defined class
e.g. human
e.g. all humans
e.g. all humans in this room
universal
P P P PP P P P
P P P P
instance-of
extension-ofextension-of
member-of classmember-ofmember-of class
Defined class
Defined class
e.g. human
e.g. all humans
e.g. all humans in this room
P P P PP P P P
P P P P
instance-of
class/concept
Terminology
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The ‘terminology / ontology divide’
• Terminology:– solves certain issues related to language use, i.e. with respect to
how we talk about entities in reality (if any);• Relations between terms / concepts
– does not provide an adequate means to represent independent of use what we talk about, i.e. how reality is structured;
• Women, Fire and Dangerous Things (Lakoff).
• Ontology (of the right sort):– Language and perception neutral view on reality.
• Relations between entities in first-order reality
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Terminological versus Ontological approach
• The terminologist defines:– ‘a clinical drug is a pharmaceutical product given to (or taken
by) a patient with a therapeutic or diagnostic intent’. (RxNorm)
• The ontologist thinks:– Does ‘given’ includes ‘prescribed’?
– Is manufactured with the intent to … not sufficient?• Are newly marketed products – available in the pharmacy, but not yet
prescribed – not clinical drugs?
• Are products stolen from a pharmacy not clinical drugs?
• What about such products taken by persons that are not patients?– e.g. children mistaking tablets for candies.
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Cardiovascular surgery examples• Systemic venous anomaly, SVC, Bilateral SVC • Systemic venous anomaly, SVC, Bilateral SVC, Innominate absent• Systemic venous anomaly, SVC, Bilateral SVC, Innominate present
• VA valve overriding• VA valve overriding, Aortic valve• VA valve overriding, Left sided VA Valve• VA valve overriding, Pulmonary valve• VA valve overriding, Right sided VA Valve• VA valve overriding-modifier for degree of override, Override of VA valve ,50%• VA valve overriding-modifier for degree of override, Override of VA valve .90%• VA valve overriding-modifier for degree of override, Override of VA valve 50–
90%
JP. Jacobs et.al. The nomenclature, definition and classification of cardiac structures in the setting of heterotaxy. Cardiol Young 2007; 17(Suppl. 2): 1–28
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The semantic triangle revisited
concepts
termsobjects
Representation and Reference
First Order Reality
about
termsconcepts
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Terminology Realist Ontology
Representation and Reference
First Order Reality
about
representational units
universals particularsobjects
termsconcepts
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Terminology Realist Ontology
Representation and Reference
First Order Reality
about
representational units
universals particularsobjects
termsconcepts
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Terminology Realist Ontology
Representation and Reference
First Order Reality
about
universals particularsobjects
termsconcepts cognitiveunits
communicativeunits
representational units
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Terminology Realist Ontology
Representation and Reference
First Order Reality
universals particulars
cognitiveunits
representational units
(1) Entities with objective existence which are not about anything
(2) Cognitive entities which are our beliefs about (1)
communicativeunits
(3) Representational units in various forms about (1), (2) or (3)
Three levels of reality in Realist Ontology
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The three levels in medical practice
1.First-order
reality
2. Beliefs (knowledge)
Generic Specific
DIAGNOSIS
INDICATION
my doctor’swork plan
my doctor’sdiagnosis
MOLECULE
PERSON
DISEASE
PATHOLOGICALSTRUCTURE
BLOODPRESSURE
DRUG
me
my blood pressure
my ASD
my doctor my doctor’s computer
3. Representation ‘atrial septal defect’ ‘W. Ceusters’ ‘my heart defect’
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Terminology is too reductionistWhat concepts do we need?
How do we name concepts properly?
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The power of realism in ontology design
Reality as benchmark !
1. Is the scientific ‘state of the art’consistent with biomedical reality ?
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The power of realism in ontology design
Reality as benchmark !
2. Is my doctor’s knowledge up to date?
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The power of realism in ontology design
Reality as benchmark !
3. Does my doctor have an accurateassessment of my health status?
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The power of realism in ontology design
Reality as benchmark !4. Is our terminology rich enough
to communicate about all three levels?
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The power of realism in ontology design
Reality as benchmark !
5. How can we use case studies betterto advance the state of the art?
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Referent Tracking
New York State Center of Excellence in Bioinformatics & Life Sciences
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Another problem to solve: how many disorders?
5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
Three references of hypertension for the samepatient 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 usedin relation to three different events might or might not refer to the samelocation.
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 relationto two different patients can not refer tothe same fracure.
If two different tumor codes are usedin relation to observations made on differentdates for the same patient, they may still refer to the same tumor.
New York State Center of Excellence in Bioinformatics & Life Sciences
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Requirements for a digital copy of the world
• R1: A faithful representation of reality• R2 … of everything that is digitally registered,
what is generic scientific theories realism-based ontologies
what is specific what individual entities exist and how they relate
• R3: … throughout reality’s entire history,• R4 … which is computable in order to …
… allow queries over the world’s past and present,
… make predictions,
… fill in gaps,
… identify mistakes,
...
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The reality: a digital copy of part of the world
Applying the grid should not give a distorted representation of reality, but only
an incomplete representation !!!
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Key issue: keeping track of what the bits denote
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• explicit reference to the concrete individual entities relevant to the accurate description of each patient’s condition, therapies, outcomes, ...
Fundamental goal of Referent Tracking
Ceusters W, Smith B. Strategies for Referent Tracking in Electronic Health Records. J Biomed Inform. 2006 Jun;39(3):362-78.
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Method: numbers instead of words
Ceusters W, Smith B. Strategies for Referent Tracking in Electronic Health Records. J Biomed Inform. 2006 Jun;39(3):362-78.
– Introduce an Instance Unique Identifier (IUI) for each relevant particular (individual) entity
78
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The essence ofReferent Tracking
• Keeping track of particulars
• By means of singular and globally unique identifiers (#1, #2, #3, …)
• That function as surrogates for these entities in information systems, documents, etc
• And are managed IN a referent tracking system.
Ceusters W. and Smith B. Tracking Referents in Electronic Health Records. In: Engelbrecht R. et al. (eds.) Medical Informatics Europe, IOS Press, Amsterdam, 2005;:71-76
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‘John Doe’s ‘John Smith’s
liver liver
tumor tumor
was treated was treated
with with
RPCI’s RPCI’s
irradiation device’ 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 t1
instance-of at t1
instance-of at t1
instance-of
instance-of at t1
#10
#30
#20
#40
#5
#6
inst-of at t2
inst-of at t2
inst-of at t2
inst-of
inst-of at t2
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EHR – Ontology “collaboration”
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Reasoning over instances and universals
instance-of at t
#105caused
by
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5572 04/07/1990 26442006 closed fracture of shaft of femur
5572 04/07/1990 81134009 Fracture, closed, spiral
5572 12/07/1990 26442006 closed fracture of shaft of femur
5572 12/07/1990 9001224 Accident in public building (supermarket)
5572 04/07/1990 79001 Essential hypertension
0939 24/12/1991 255174002 benign polyp of biliary tract
2309 21/03/1992 26442006 closed fracture of shaft of femur
2309 21/03/1992 9001224 Accident in public building (supermarket)
47804 03/04/1993 58298795 Other lesion on other specified region
5572 17/05/1993 79001 Essential hypertension
298 22/08/1993 2909872 Closed fracture of radial head
298 22/08/1993 9001224 Accident in public building (supermarket)
5572 01/04/1997 26442006 closed fracture of shaft of femur
5572 01/04/1997 79001 Essential hypertension
PtID Date ObsCode Narrative
0939 20/12/1998 255087006 malignant polyp of biliary tract
IUI-001
IUI-001
IUI-001
IUI-003
IUI-004
IUI-004
IUI-005
IUI-005
IUI-005
IUI-007
IUI-007
IUI-007
IUI-002
IUI-012
IUI-006
7 distinct disorders
Codes for types AND identifiers for instances
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Requirements for a digital copy of the world
• R1: A faithful representation of reality• R2 … of everything that is digitally registered,
what is generic scientific theories
what is specific what individual entities exist and how they relate
• R3: … throughout reality’s entire history,• R4 … which is computable in order to …
… allow queries over the world’s past and present,
… make predictions,
… fill in gaps,
… identify mistakes,
...
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Eternal memory
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Accept that everything may change:
1. changes in the underlying reality:• Particulars come, change and go
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R T UIdentity & instantiation
child adult
caterpillar butterfly
t
person
animal
Livingcreature
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Accept that everything may change:
1. changes in the underlying reality:• Particulars come, change and go
2. changes in our (scientific) understanding: • The plant Vulcan does not exist
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Reality and representation: both in evolution
IUI-#3
O-#2: ‘cancer’
O-#1: ‘benign tumor’
tU1: benign tumor
U2: malignant tumor
p3Reality
Repr.
O-#0: diabolic possession
= “denotes” = what constitutes the meaning of representational units …. Therefore: O-#0 is meaningless
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Accept that everything may change:
1. changes in the underlying reality:• Particulars come, change and go
2. changes in our (scientific) understanding: • The plant Vulcan does not exist
3. reassessments of what is considered to be relevant for inclusion (notion of purpose).
4. encoding mistakes introduced during data entry or ontology development.
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Changes over time
• In John Smith’s Electronic Health Record:– At t1: “male” at t2: “female”
• What are the possibilities ?• Change in reality:
• transgender surgery• change in legal self-identification
• Change in understanding: it was female from the very beginning but interpreted wrongly
• Correction of data entry mistake: it was understood as male, but wrongly transcribed
• (Change in word meaning)
New York State Center of Excellence in Bioinformatics & Life Sciences
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Requirements for a digital copy of the world
• R1: A faithful representation of reality• R2 … of everything that is digitally registered,
what is generic scientific theories
what is specific what individual entities exist and how they relate
• R3: … throughout reality’s entire history,• R4 … which is computable in order to …
… allow queries over the world’s past and present,
… make predictions,
… fill in gaps,
… identify mistakes,
...
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Referent Tracking System Components
• Referent Tracking SoftwareManipulation of statements about facts and
beliefs
• Referent Tracking Datastore:• IUI repository
A collection of globally unique singular identifiers denoting particulars
• Referent Tracking Database
A collection of facts and beliefs about the particulars denoted in the IUI repository
Manzoor S, Ceusters W, Rudnicki R. Implementation of a Referent Tracking System. International Journal of Healthcare Information Systems and Informatics 2007;2(4):41-58.
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Place in the Health IT arena
#IUI-1 ‘affects’ #IUI-2#IUI-3 ‘affects’ #IUI-2#IUI-1 ‘causes’ #IUI-3...
Referent TrackingDatabase
CAG repeat
Juvenile HD
persondisorder
continuantOntology
EHR
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How to build an ontology from a terminology?
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Steps in ontology building
1. For all terms identified in the terminology, find the entities in reality that are directly denoted;
2. Determine the top categories these entities belong to;
3. Determine for any dependent entity:• If process: the continuants that participate in it
• If dependent continuant: the continuant upon which it depends
4. For any entity determined in step 3, go to step 2.
Rudnicki R, Ceusters W, Manzoor S, Smith B. What Particulars are Referred to in EHR Data? A Case Study in Integrating Referent Tracking into an Electronic Health Record Application. In Teich JM,
Suermondt J, Hripcsak C. (eds.), American Medical Informatics Association 2007 Annual Symposium Proceedings, Biomedical and Health Informatics: From Foundations to Applications to Policy, Chicago
IL, 2007;:630-634.
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Building the Ontology underlying a terminology (MDS)
MDSOntology
U2
U3
U5
U4
U6
MDS1 MDS2 MDS3 MDS4 MDS5 MDS6 …
U11
U7
U14
U13
U10
U12
MDS terms
U17
U16
U1
U9U8
BFO
Class-relations
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R T U Adding another terminology
U2
U1
U7
U17
U9
U3
U5
U4
U6U11
U10
U14
U12
U13
U…
OPOOntology
(MDS + CARE +…)
MDS1 MDS2 MDS3 MDS4 MDS5 MDS6 …
… MDS terms
U16
U8
BFO
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U Adding another terminology
U2
U1
U7
U17
U9
U3
U5
U4
U6U11
U10
U14
U12
U13
U…
OPOOntology
(MDS + CARE +…)
MDS1 MDS2 MDS3 MDS4 MDS5 MDS6 …
……
CARE 1
CARE 2
CARE 3
CARE 4
MDS terms
CARE terms
U15 U16
U8
BFO
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How to link to patient data ?
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Semantic integration of data expressed in distinct terminologies
• Purpose:– Better comparability
– Statistical validation of the ontology• Explanation of observed correlations between assessment data elements
• Finding patient subpopulations exhibiting correlations which are near-significant without the ontology, but significant with the ontology
• Two level integration:– Type level : poor man’s linkage
– Particular level: rich man’s linkage
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R T U ‘Poor man’s’ data linkage
U2
U1
U7
U17
U9
U3
U5
U4
U6U11
U10
U14
U12
U13
U…
MDSOntology
MDS1 MDS2 MDS3 MDS4 MDS5 MDS6 …
… MDS terms
U16
U8
pt4 pt3
Patientdata
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Data linkage using multiple instruments
U2
U1
U7
U17
U9
U3
U5
U4
U6U11
U10
U14
U12
U13
U…
OPOOntology
(MDS + CARE +…)
MDS1 MDS2 MDS3 MDS4 MDS5 MDS6 …
…… MDS terms
CARE terms
U15 U16
U8
BFO
X
X
X
X
X
X
X
X
X X X X
X X X
X X X
Patient 1
Patient 2
Patient 3
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Problems with this level
• Exclusive focus on universals, ignoring that in data collection (almost) everything is about particulars.
• Therefore Referent Tracking must be brought in the picture.
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Referent Tracking solves this problem:
• It is true that:– (1) ‘All Americans have one mother’– (2) ‘All Americans have one president’
• But:– (1) ‘all Americans have a distinct mother’– (2) ‘all Americans have a (numerically) identical
president’
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U From ‘poor man’s’ to‘rich man’s’ data linkage
U2
U1
U7
U17
U9
U3
U5
U4
U6U11
U10
U14
U12
U13
MDSOntology
MDS1 MDS2 MDS3 MDS4 MDS5 MDS6 …
MDS terms
U16
U8
pt4 pt3
Patientdata
formula
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Rich man’s data linkage: focus on particulars
U6U11
MDS3 MDS4
pt4 pt3
pt4
IUI-1
U6
IUI-2 IUI-3
U11
IUI-4 IUI-5
pt3
Instance-of
Particularrelations
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Many more combinations possible
• The terms used in MDS4 denote distinct particulars related to both patients
• One of the terms used in MDS4 denotes the same particular for both patients
pt4
IUI-1
U6
IUI-2 IUI-3
U11
IUI-4 IUI-5
pt3pt4
IUI-1
U6
pt4
IUI-1
U6
IUI-1
U6
IUI-2 IUI-3
U11
IUI-2 IUI-3
U11
IUI-4 IUI-5
pt3
IUI-4 IUI-5
pt3 pt4
IUI-1
U6
IUI-2IUI-3
U11
IUI-5
pt3pt4
IUI-1
U6
IUI-1
U6
IUI-2IUI-3
U11
IUI-5
pt3
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
What has worked ?How have disparate views
been accommodated?
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Definitions for ‘Adverse Event’D4 an observation of a change in the state of a subject assessed as being untoward
by one or more interested parties within the context of a protocol-driven research or public health.
BRIDG
D5 an event that results in unintended harm to the patient by an act of commission or omission rather than by the underlying disease or condition of the patient
IOM
D6 any unfavorable and unintended sign (including an abnormal laboratory finding), symptom, or disease temporally associated with the use of a medical treatment or procedure that may or may not be considered related to the medical treatment or procedure
NCI
D7 any untoward medical occurrence in a patient or clinical investigation subject administered a pharmaceutical product and which does not necessarily have to have a causal relationship with this treatment
CDISC
D8 an untoward, undesirable, and usually unanticipated event, such as death of a patient, an employee, or a visitor in a health care organization. Incidents such as patient falls or improper administration of medications are also considered adverse events even if there is no permanent effect on the patient.
JTC
D9 an injury that was caused by medical management and that results in measurable disability.
QUIC
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
At least one argument• There is no entity which would be such that, were it placed before
these authors, they would each in turn be able to point to it and respectively say – faithfully and honestly – – “that is an observation” (definition D4), – “that is an injury” (definition D9), – “that is a laboratory finding” (definition D6).
• Clearly, – nothing which is an injury can be a laboratory finding, although, of course,
laboratory findings can aid in diagnosing an injury or in monitoring its evolution.
– nothing which is a laboratory finding, can be an observation, although, of course, some observation must have been made if we are to arrive at a laboratory finding.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Hypothesis
• Because …– all the authors of the mentioned definitions use the term
‘adverse event’ in some context for a variety of distinct entities, and
– these contexts look quite similar • in each of them, more or less the same sort of entities seem to be
involved
• … there is some common ground (some portion of reality) which is such that the entities within it can be used as referents for the various meanings of ‘adverse event’.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Why does this matter ?
• Be precise about what representational units in either an ontology or data repository stand for.
• Each such unit in an ontology should come with additional information on whether it denotes:– an entity at level 1, level 2 or level 3
and
– a universal, or a defined or composite class
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Examples from our adverse event domain ontologyDenotation Class Type Particular Type Description (role in adverse event scenario)
Level 1
C1 subject of care DC independent continuant
person to whom harm might have been done through an act under scrutiny
C2 act under scrutiny DC act of care act of care that might have caused harm to the subject of care
C7 structure change U process change in an anatomical structure of a person
C8 structure integrity U dependent continuant
aspect of an anatomical structure deviation from which would bring it about that the anatomical structure would either (1) itself become dysfunctional or (2) cause dysfunction in another anatomical structure
C12 subject investigation
DC process looking for a structure change in the subject of care
Level 2
C15 observation DC dependent continuant
cognitive representation of a structure change resulting from an act of perception within a subject investigation
C16 harm diagnosis DC dependent continuant
cognitive representation, resulting from a harm assessment, and involving an assertion to the effect that a structure change is or is not a harm
Level 3
C18 care reference DC information entity
concretized (through text, diagram, …) piece of knowledge drawn from state of the art principles that can be used to support the appropriateness of (or correctness with which) processes are performed involving a subject of care
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Representing particular cases
• Is the generic representation of the portion of reality adequate enough for the description of particular cases?
• Example: a patient – born at time t0 – undergoing anti-inflammatory treatment and
physiotherapy since t2 – for an arthrosis present since t1– develops a stomach ulcer at t3.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Anti-inflammatory treatment with ulcer developmentIUI Particular description Properties
#1 the patient who is treated #1 member C1 since t2
#2 #1’s treatment #2 instance_of C3 #2 has_participant #1 since t2
#2 has_agent #3 since t2
#3 the physician responsible for #2 #3 member C4 since t2
#4 #1’s arthrosis #4 member C5 since t1
#5 #1’s anti-inflammatory treatment #5 part_of #2 #5 member C2 since t3
#6 #1’s physiotherapy #6 part_of #2
#7 #1’s stomach #7 member C6 since t2
#8 #7’s structure integrity #8 instance_of C8 since t0 #8 inheres_in #7 since t0
#9 #1’s stomach ulcer #9 part_of #7 since t3
#10 coming into existence of #9 #10 has_participant #9 at t3
#11 change brought about by #9 #11 has_agent #9 since t3 #11 has_participant #8
since t3
#11 instance_of C10 at t3
#12 noticing the presence of #9 #12 has_participant #9 at t3+x #12 has_agent #3 at t3+x
#13 cognitive representation in #3 about #9 #13 is_about #9 since t3+x
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Advantage 1: reduce ambiguity in definitions• E.g. ‘adverse drug reaction: an undesirable response associated
with use of a drug that either compromises therapeutic efficacy, enhances toxicity, or both.’ (Joint Technical Committee)
– May denote something on level 1, e.g. a realizable entity which exists objectively as an increased health risk; in this sense any event ‘that either compromises therapeutic efficacy, enhances toxicity, or both’ is undesirable;
– May denote something on level 2, so that, amongst all of those events which influence therapeutic efficacy or toxicity, only some are considered undesirable (for whatever reason) by either the patient, the caregiver or both; or
– May denote something relating to level 3, so a particular event occurring on level 1 is undesirable only when it is an instance of a type of event that is listed in some guideline, good practice management handbook, i.e. in some published statement of the state of the art in relevant matters.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Advantage 2: reveal hidden assumptions
• E.g.: ‘adverse event: an event that results in unintended harm to the patient by an act of commission or omission rather than by the underlying disease or condition of the patient’ (IOM)
• But:– An ‘act of omission’ is under the realist agenda not an entity
that exist at level 1, but rather a level 3 entity denoting a configuration in which not was done what good practice requires to be done,
– Something what not exist at level 1, cannot cause harm by itself,
– Thus it must be the underlying disease.
New York State Center of Excellence in Bioinformatics & Life Sciences
R T U
Conclusion
• Health data management involves many actors and IT systems: semantic interoperability is thus a key issue.
• Ontologies (of the right sort) provide a deep level of semantic interoperability between IT systems, thereby keeping track:– of what is the case;
– of what is known by some actor(s);
– of what has been and still needs to be done.
• Realism-based ontology, as a discipline, helps in creating ontologies of the right sort.