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IHIC 2010
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The HL7 Clinical Genomics Work Group
Prepared by Amnon Shabo (Shvo), PhD
HL7 Clinical Genomics WG
Co-chair and Modeling Facilitator
HL7 Structured Documents WG
CDA Co-editor
CCD Implementation Guide Co-editor
HL7 v3 Clinical Genomics –
Overview
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The HL7 Clinical Genomics Work Group
Mission To enable the standard use of patient-related genetic data such as DNA sequence variations and gene expression levels, for healthcare purposes („personalized medicine‟) as well as for clinical trials & research
Work Products and Contributions to HL7 ProcessesThe Work Group will collect, review, develop and document clinical genomics use cases in order to determine what data needs to be exchanged. The WG will review existing genomics standards formats such as BSML (Bioinformatics Sequence Markup Language), MAGE-ML (Microarray and GeneExpression Markup Language), LSID (Life Science Identifier) and other. This group will recommend enhancements to and/or extensions of HL7's normative standards for exchange of information about clinical genomic orders and observations.
In addition, Clinical Genomics will seek to assure that related or supportive standards produced by other HL7 groups are robust enough to accommodate their use in both research and clinical care use. The group will also monitor information interchange standards developed outside HL7, and attempt harmonization of information content and representation of such standards with the HL7 content and representation.
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Overview of Activities
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v3:
Family History (Pedigree) Topic
Genetic Variations Topic
Gene Expression Topic
CMETs defined by theDomain
v2:
v2 Implementation Guides
* The IG “Genetic Test Result Reporting to EHR” is modeled after the HL7 Version 2.5.1 Implementation Guide: Orders And Observations; Interoperable Laboratory Result Reporting To EHR (US Realm), Release 1
CDA:
A CDA Implementation Guide for Genetic Testing Reports
Common:
Domain Analysis Models for the various topics
A Domain Information Model (v3) describing the common semantics
Semantic alignment among the various specs
Three Tracks:
Normative
DSTU
Informative
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HL7 Clinical Genomics: The v3 Track
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Family
History
Domain Information Model:
Genome
Gene Expression
Phenotype(utilizing the HL7
Clinical Statement)
Utiliz
e
Co
ns
train
Genetic VariationC
on
stra
in
utilize
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To achieve semantic interoperability…
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Clinical
Trials
Imaging
EHR
Orders &Observations
Pharmacy
Clinical
Guidelines
Health
RIM
Clinical
Documents
Clinical
Genomics
Central Health RIM (e.g., an extended HL7 V3 Reference Information Model):
Bio & medical-informatics standard specs are derived from the same RIM
…we need standard specs derived from a Central Health RIM:
Bioinformatics
Data Models
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Utilizations / Implementation
Utilization by other HL7 Domains HL7 RCRIM Work Group (clinical trials specs) utilizes the CG
models in their new Pharmacogenomics message, which is an extension of the CTLab message
The Lab Work Group might utilize a constrained version of the Genetic Variation model in their Result message
Selected Implementations The Family History spec is used in Mass General Hospital
Expanding to other family history applications including the US Surgeon General Family History tool
The Genetic Variation model is used in Hypergenes (a European project on essential hypertension, http://www.hypergenes.eu/)
The Pedigree and Genetic Variation models are used in Italy, the Rizzoli institute in Bologna
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0..* associatedObservation
typeCode*: <= COMP
component
0..* associatedProperty
typeCode*: <= DRIV
derivedFrom2
0..* polypeptide
typeCode*: <= DRIV
derivedFrom5
SEQUENCES & PROTEOMICS
0..* expression
typeCode*: <= COMP
component1
0..* sequenceVariation
typeCode*: <= COMP
component3
IndividualAlleleclassCode*: <= OBS
moodCode*: <= EVN
id: II [0..1]
negationInd: BL [0..1]
text: ED [0..1]
effectiveTime: GTS [0..1]
value: CD [0..1] (allele code, drawn from HUGO-HGVS or OMIM)
methodCode: SET<CE> CWE [0..*]
GeneticLocusclassCode*: <= OBS
moodCode*: <= EVN
id: II [0..1]
code: CE CWE [0..1] (e.g., ALLELIC, NON_ALLELIC)
text: ED [0..1]
effectiveTime: IVL<TS> [0..1]
confidentialityCode: SET<CE> CWE [0..*] <= Confidentiality
uncertaintyCode: CE CNE [0..1] <= Uncertainty
value: CD [0..1] (identifying a gene through GenBank GeneID with an optional translation to HUGO name.)
methodCode: SET<CE> CWE [0..*]
0..* individualAllele
typeCode*: <= COMP
component1
SequenceclassCode*: <= OBS
moodCode*: <= EVN
id: II [0..1]
code: CD CWE [1..1] (the sequence standard code, e.g. BSML)
text: ED [0..1] (sequence's annotations)
effectiveTime: GTS [0..1]
uncertaintyCode: CE CNE [0..1] <= Uncertainty
value: ED [1..1] (the actual sequence)
interpretationCode: SET<CE> CWE [0..*] <= ObservationInterpretation
methodCode: SET<CE> CWE [0..*] (the sequencing method)
ExpressionclassCode*: <= OBS
moodCode*: <= EVN
id: II [0..1]
code: CE CWE [1..1] (the standard's code (e.g., MAGE-ML identifier)
negationInd: BL [0..1]
text: ED [0..1]
effectiveTime: GTS [0..1]
uncertaintyCode: CE CNE [0..1] <= Uncertainty
value: ED [1..1] (the actual gene or protein expression levels)
interpretationCode: SET<CE> CWE [0..*] <= ObservationInterpretation
methodCode: SET<CE> CWE [0..*]
PolypeptideclassCode*: <= OBS
moodCode*: <= EVN
id: II [0..1]
text: ED [0..1]
effectiveTime: GTS [0..1]
value: CD [0..1]
(protein code, drawn from SwissProt, PDB, PIR,
HUPO, etc.)
methodCode: SET<CE> CWE [0..*]
DeterminantPeptidesclassCode*: <= OBS
moodCode*: <= EVN
id: II [0..1]
text: ED [0..1]
effectiveTime: GTS [0..1]
value: CD [0..1]
(peptide code, drawn from reference
databases like
those used in the Polypeptide class)
methodCode: SET<CE> CWE [0..*]
Constrained to a restricted
MAGE-ML constrained schema,
specified separately.
Constraint: GeneExpression.value
Note:
A related allele that is on
a different locus, and has
interrelation with the
source allele, e.g.,
translocated duplicates
of the gene.
0..* clinicalPhenotype
typeCode*: <= PERT
pertinentInformation
ExternalObservedClinicalPhenotypeclassCode*: <= OBS
moodCode*: <= EVN
id*: II [1..1]
(The unique id of an external observation residing outside of the instance)
code: CD CWE [0..1]
text: ED [0..1]
effectiveTime: GTS [0..1]
Note:
An external observation is preferably a valid observation
instance existing in any other HL7-compliant instance,
e.g., a document or a message.
Use the id attribute of this class to point to the unique
instance identifier of that observation.
Note:
A phenotype which has been actually
observed in the patient represented
internally in this model.
Note:
This is a computed outcome, i.e.,
the lab does not test for the actual
protein, but secondary processes
populate this class with the
translational protein.
SequenceVariationclassCode*: <= OBS
moodCode*: <= EVN
id: II [0..1]
code: CD CWE [0..1]
negationInd: BL [0..1]
text: ED [0..1]
effectiveTime: GTS [0..1]
value: ANY [0..1]
(The variation itself expressed with recognized notation like 269T>C or markup like BSML or drawn from an
external reference like OMIM or dbSNP.)
interpretationCode: SET<CE> CWE [0..*] <= ObservationInterpretation
methodCode: SET<CE> CWE [0..*]
KnownClinicalPhenotypeclassCode*: <= OBS
moodCode*: <= DEF
code: CD CWE [0..1]
text: ED [0..1]
effectiveTime: GTS [0..1]
uncertaintyCode: CE CNE [0..1] <= ActUncertainty
value: ANY [0..1]
Note:
These phenotypes are not the actual (observed)
phenotypes for the patient, rather they are the
scientifically known phenotypes of the source
genomic observation (e.g., known risks of a
mutation or know responsiveness to a medication).
Note:
Code: COPY_NUMBER, ZYGOSITY, DOMINANCY, GENE_FAMILY,
etc. For example, if code = COPY_NUMBER, then the value is of
type INT and is holding the no. of copies of this gene or allele.
0..* clinicalPhenotype
typeCode*: <= PERT
pertinentInformation
EXPRESSION DATA
SEQUENCE VARIATIONS
Polypeptide
Note:
The Expression class refers to both gene and protein
expression levels. It is an encapsulating class that allows
the encapsulation of raw expression data in its value attribute.
0..* sequence
typeCode*: <= COMP
component2
0..* clinicalPhenotype
typeCode*: <= PERT
pertinentInformation
0..* clinicalPhenotype
typeCode*: <= PERT
pertinentInformation
Note:
The code attribute indicates in
what molecule the variation occurs,
i.e., DNA, RNA or Protein.
0..* expression
typeCode*: <= COMP
component5
Note:
Use the associations to the shadow
classes when the data set type (e.g.,
expression) is not at deeper levels
(e.g., allelic level) and needs to be
associated directly with the locus
(e.g., the expression level is the
translational result of both alleles).
0..* associatedObservationtypeCode*: <= COMP
component2
0..1 associatedObservation
typeCode*: <= COMP
component4 Note:
This recursive association
enables the association of an
RNA sequence derived from
a DNA sequence and a
polypeptide sequence derived
from the RNA sequence.
0..* clinicalPhenotype
typeCode*: <= PERT
pertinentInformation
Note:
This class is a placeholder for a specific locus on the genome - that is - a position of a particulargiven sequence in the subject’s genome or linkage map.Note that the semantics of the locus (e.g., gene, marker, variation, etc.) is defined by data assignedin the code & value attributes of this class, and also by placing additional data relating to thislocus into the classes associated with this class like Sequence, Expression, etc..
Note:
The term 'Individual Allele' doesn't refer necessarily to a
known variant of the gene/locus, rather it refers to the
individual patient data regarding the gene/locus and might
well contain personal variations w/unknown significance.
AssociatedObservationclassCode*: <= OBS
moodCode*: <= EVN
id: SET<II> [0..*]
code: CD CWE [0..1]
text: ED [0..1]
effectiveTime: GTS [0..1]
value: ANY [0..1]
methodCode: SET<CE> CWE [0..*]
Note:
The code attribute could hold codes like
NORMALIZED_INTENSITY, P_VALUE, etc.
The value attribute is populated based on the
selected code and its data type is then setup
accordingly during instance creation.
Note:
The code attribute could hold codes like TYPE,
POSITION.GENOME, LENGTH, REFERENCE, REGION, etc..
The value attribute is populated based on the selected code
and its data type is then setup accordingly during instance
creation. Here are a few examples:
If code = TYPE, then the value is of type CV and holds one of the
following: SNP (tagSNP), INSERTION, DELETION,
TRANSLOCATION, etc.
if code = POSITION, then value is of type INT and holds
the actual numeric value representing the variation position
along the gene.
if code = LENGTH, then value is of type INT and holds
the actual numeric value representing the variation length.
If code = POSITION.GENE, then value is of type CV and is one
of the following codes:
INTRON, EXON, UTR, PROMOTER, etc.
If code = POSITION.GENOME, then value is of type CV and is one
of the following codes:
NORMAL_LOCUS, ECTOPIC, TRANSLOCATION, etc.
If the code = REFERENCE, then value is
type CD and holds the reference gene identifier drawn from a
reference database like GenBank.
The full description of the allowed vocabularies for codes and its
respective values could be found in the specification.
AssociatedObservation
Note:
Code: CLASSIFICATION, etc.
For example, if code =
CLASSIFICATION, then the value
is of type CV and is holding either
KNOWN or NOVEL.
reference
0..* geneticLocus
typeCode*: <= REFR
Note:
A related gene that is on a
different locus, and still
has significant interrelation
with the source gene (similar
to the recursive association
of an IndividualAllele).
ClinicalPhenotypeclassCode*: <= ORGANIZER
moodCode*: <= EVN
0..* observedClinicalPhenotype
typeCode*: <= COMP
component1
0..* knownClinicalPhenotype
typeCode*: <= COMP
component2
0..* externalObservedClinicalPhenotype
typeCode*: <= COMP
component3
At least one of the target acts of
the three component act relationships
should be populated, since this is
just a wrapper class.
Constraint: ClinicalPhenotype
Note:
- code should indicate the type of source, e.g., OMIM
- text could contain pieces from research papers
- value could contain a phenotype code if known
(e.g., if it’s a disease, then the disease code)
ClinicalPhenotype
ClinicalPhenotype
ClinicalPhenotype
ClinicalPhenotype
ClinicalPhenotype
ClinicalPhenotype
0..1 identifiedEntity
typeCode*: <= SBJ
contextControlCode: CS CNE [0..1] <= ContextControl "OP"
subject
reference
0..* individualAllele
typeCode*: <= REFR
ObservedClinicalPhenotype
Note:
This CMET might be replaced
with the Clinical Statement Shared
Model for richer expressivity, when
the that mode is approved
(currently in ballot).
Constrained to a restricted BSML
content model, specified in a
separate schema.
Constraint: Sequence.value
0..* sequence
typeCode*: <= COMP
component4
0..* sequenceVariation
typeCode*: <= COMP
component3
AssociatedPropertyclassCode*: <= OBS
moodCode*: <= EVN
code: CD CWE [0..1]
text: ED [0..1]
value: ANY [0..1]
0..* associatedProperty
typeCode*: <= DRIV
derivedFrom1
AssociatedObservation
0..* associatedObservation
typeCode*: <= COMP
component
AssociatedProperty
AssociatedObservation
0..* associatedProperty
typeCode*: <= DRIV
derivedFrom
AssociatedProperty0..* associatedProperty
typeCode*: <= DRIV
derivedFrom1
AssociatedObservation0..* associatedObservation
typeCode*: <= COMP
component
0..* sequenceVariationtypeCode*: <= DRIV
derivedFrom3derivedFrom2
0..* sequence
typeCode*: <= DRIV
0..* determinantPeptides
typeCode*: <= DRIV
derivedFrom4
0..* determinantPeptides
typeCode*: <= DRIV
derivedFrom
0..* clinicalPhenotype
typeCode*: <= PERT
pertinentInformation 0..* clinicalPhenotype
typeCode*: <= PERT
pertinentInformation
AssociatedProperty
0..* associatedProperty
typeCode*: <= DRIV
derivedFrom
AssociatedProperty
GeneticLociclassCode*: <= OBS
moodCode*: <= EVN
id: SET<II> [0..*]
code: CD CWE [0..1]
effectiveTime: GTS [0..1]
value: ANY [0..1]
0..* geneticLocitypeCode*: <= COMP
componentOf
0..* clinicalPhenotype
typeCode*: <= PERT
pertinentInformation
GeneticLoci
0..* geneticLoci
typeCode*: <= COMP
componentOf
GeneticLoci
0..* geneticLoci
typeCode*: <= COMP
componentOf
0..* polypeptide
typeCode*: <= DRIV
derivedFrom1
Polypeptide
0..* polypeptide
typeCode*: <= DRIV
derivedFrom2
Note:
Use this class to indicate a set of genetic loci
to which this locus belongs. The loci set could
be a haplotype, a genetic profile and so forth.
Use the id attribute to point to the GeneticLoci
instance if available. The other attributes
serve as a minimal data set about the loci group.
PHENOTYPES
Note:
Any observation related to the variation and is not
an inherent part of the variation observation (the latter
should be represented in the AssociatedProperty class).
For example, the zygosity of the variation.
Note:
Use this class to point to a variation
group to which this variation belongs.
For example, a SNP haplotype.
Note:
Any observation related to the sequence and is not
an inherent part of the sequence observation (the latter
should be represented in the AssociatedProperty class).
For example, splicing alternatives.
Note:
Key peptides in the protein
that determine its function.
Note:
There could be zero to many
IndividualAllele objects in a
specific instance. A typical
case would be an allele pair,
one on the paternal
chromosome and one on the
maternal chromosome.
Note:
Use this class to
show an allele
haplotype like in HLA.
Note:
Any observation
related to the
expression assay
and is not an
inherent part of
the expression
observation.
Note:
Use this class for
inherent data
about the locus, e.g.
chromosome no.
IdentifiedEntityclassCode*: <= IDENT
id: SET<II> [0..*]
code: CE CWE [0..1] <= RoleCode
Note:
Use this role to identify a different subject
(e.g., healthy tissue, virus, etc.) than the
one propagated from the wrapping
message or payload (e.g., GeneticLoci).
ScopingEntityclassCode*: <= LIV
determinerCode*: <= INSTANCE
id: SET<II> [0..*]
code: CE CWE [0..1] <= EntityCode
0..* assignedEntity
typeCode*: <= PRF
contextControlCode: CS CNE [0..1] <= ContextControl "OP"
performer
0..*
performer
0..*
performer1
0..*
performer2
0..*
performer1
0..*
performer2
Genetic Locus(POCG_RM000010)
The entry point to
the GeneticLocus model
is any locus on the genome.
Constrained to a restricted MAGE-ML
content model, specified in a
separate schema.
Constraint: Expression.value
Expression
Sequence
SequenceVariation
SequenceVariation
0..* clinicalPhenotypetypeCode*: <= PERT
pertinentInformation
ClinicalPhenotype
CMET: (ASSIGNED)
R_AssignedEntity
[universal](COCT_MT090000)
0..1 scopedRoleName
CMET: (ACT)
A_SupportingClinicalInformation
[universal](COCT_MT200000)
The Locus
and its Alleles
Sequence
Variations
Expression
Data
Sequence
and
Proteomics
Clinical
Phenotypes
The DSTU GeneticLocus Model Focal Areas (DIM forerunner):
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The Underlying Paradigm:Encapsulate & Bubble-up
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Clinical PracticesGenomic Data
Sources
EHR
System
Bubble up the most clinically-significant raw
genomic data into specialized HL7 objects and
link them with clinical data from the patient EHR
Decision Support Applications
Knowledge(KBs, Ontologies, registries,
reference DBs, Papers, etc.)
Bridging is the challenge…
Encapsulation by
predefined &
constrained
bioinformatics
schemas
Bubbling-up is
done continuously
by specialized DS
applications
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Encapsulate & Bubble-up Example
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Decision Support Applications
Genetic CounselingDNA Lab
Bubble up the most clinically-significant SNP data into
HL7 SNP and Mutation objects and
link them with clinical data from the patient EHR
Sequencing Example…
Encapsulation by
a constrained
BSML schema
Bubbling-up is
done dynamically
by specialized
applications, e.g.,
sequence
analyzing
programs
EHR
System
Knowledge Sources
on genetic variants
(e.g., OMIM)
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Example: Family History XML Encoding
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Point
back…
Bubble
up…To
phenotype
and beyond….
Taken from a patient pedigree, the
portion related to patient’s daughter
(in collaboration with Partners HealthCare
& other HL7 CG SIG members)
Point back to the raw data of
this relative providing
“personal evidence”
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XML Fusion: Encapsulation of Raw Genomic Data
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Ra
w g
en
om
ic d
ata
re
pre
se
nte
d in
Bio
info
rma
tic
s m
ark
up
HL
7 v
3 X
ML
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The Domain Information Model - Genome
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Individual
Allele
Bio
Sequenc
e
Sequence Variation
(SNP, Mutation,
Polymorphism,
etc.)
Polypeptide
Expression Data
Phenotype
Entry Point:
Geneome
Expression
Attributes
Variation
Attributes
Encapsulating Obj.
Bubbled-up Obj.
genotypephenotype
Genetic
LociGenetic
Locus
Non-locus
specific
data
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The Phenotype Model
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Observed
Phenotype
Interpretiv
e
Phenotype
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The Genetic Variation CMET (passed
normative in Jan. 2010)
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Geneti
c Loci
Geneti
c
Locus
Individual
Allele
Sequenc
e
Variation
Sequence
(observed or
reference)
Participants
(including
specimen)
Associated
data (vocab.
Controlled)
Observed or
Interpretive
phenotypes
Genetic
Report (CDA)
Genetic
Testing
Order
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The HL7 RCRIM CT Laboratory Model-The Pharmacogenomics Extension
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Utilizes the Clinical
Genomics CMET
Genetic Lab
Clinical
Trial
Enrolled
Subject
Specimen
Consent to
Genotype
Pharmacogenomics
Test
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Gene Expression Topic
Domain Analysis
Model (DAM)
Passed informative
ballot
Based on several
models for gene
expression data
along with extensions
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New v3 Models for Future Ballot
Gene Expression CMET Model An Implementation Guide constraining the Genotype
models for gene expression data
Domain Information Model (Genome ) Allows non-locus specific data (e.g., large deletions,
cytogenetics, etc.) to be represented
Link to the locus-specific models, i.e., GeneticLoci & GeneticLocus
Query Model Based on the HL7 V3 Query by Parameter Infrastructure
Adds selected attributes from the Clinical Genomics models as parameters of the query message
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V2 Implementation Guides
The IG “Genetic Test Result Reporting to EHR” passed informative ballot
It is modeled after the HL7 Version 2.5.1 Implementation Guide: Orders And Observations; Interoperable Laboratory Result Reporting To EHR (US Realm), Release 1
Is used in a pilot of information exchange between Partners Healthcare and Intermountain Health Care
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The v2 Message Structure
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V2 Sample Message OBR|1||PM-08-J00094^HPCGG-
LMM^2.16.840.1.113883.3.167.1^ISO|lm_DCM-pnlB_L^Dilated Cardiomyopathy Panel B (5 genes)^99LMM-ORDER-TEST-ID||20080702000000|20080702100909|||||||||234567891^Pump^Patrick^^^^^^NPI^L||||||20080703000000|||F||||||00000009^Cardiovascular^99HPCGG-GVIE-INDICATION^^^^^^Clinical Diagnosis and Family History of DCM|&Geneticist&Gene&&&&&NPI^^^^^^^HPCGG-LMM&2.16.840.1.113883.3.167.1&ISO|||||||||||||||55233-1^Genetic analysis master panel ^LN
SPM|1|||119273009&Peripheral blood&SNM3&&&&0707Intl&&Blood,Peripheral|||||||||||||20080702000000
OBR|2||PM-08-J00094-1^HPCGG-LMM^2.16.840.1.113883.3.167.1^ISO|55232-3^Genetic analysis summary panel^LN|||20080702000000|||||||||||||||20080703000000|||F||||^PM-08-J00094&HPCGG-LMM&2.16.840.1.113883.3.167.1&ISO
OBX|1|CWE|51967-8^Genetic disease assessed^LN||399020009^DCM-Dilated Cardiomyopathy^SNM3^^^0707Intl||||||F|20080702100909|||||||||||Laboratory for Molecular Medicine^L^22D1005307^^^CLIA&2.16.840.1.113883.4.7&ISO|1000 Laboratory Lane^Ste. 123^Cambridge^MA^99999^USA^B
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IHIC 2010
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HL7 and Health Level Seven are registered trademarks of
Health Level Seven, Inc. Reg. U.S. Pat & TM Off
CDA IG for Genetic Testing Reports
Scope The Clinical Genomics and Structured Documents Work Groups
jointly develop a CDA Implementation Guide (IG) for genetic testing report
Design principles Follow existing report formats commonly used in healthcare &
research
Emphasize interpretations & recommendations
Provide general background information on tests performed
Represent interpretation by utilizing patterns of „genotype-phenotype‟ associations in the HL7 v3 Clinical Genomics and implement them as harmonized clinical statement entry-level templates in this IG
Reference HL7 Clinical Genomics instances as the place holders of raw data (personal evidences), similarly to referencing images (technically-wise)
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IHIC 2010
© 2002-2007 Health Level Seven ®, Inc. All Rights Reserved.
HL7 and Health Level Seven are registered trademarks of
Health Level Seven, Inc. Reg. U.S. Pat & TM Off
CDA GTR Section Outline
Section outline
Section: Tests Performed & Respective Results (including tests with no findings or failures)
Sub-section: Specimen Details
Sub-section: Genetic Variations
Sub-section: Gene & Protein Expression
Sub-section: Other tests & results
In each of the above optional sub-sections there should be zero to many testing details sub-sections.
Sub-section: Testing DetailsIn each of the Testing Details sub-sections, there should be the following nesting sub-sections and components: Sub-section: Tests Performed and Indications
Sub-section: Specimen details
Sub-section: Findings
(more)
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IHIC 2010
© 2002-2007 Health Level Seven ®, Inc. All Rights Reserved.
HL7 and Health Level Seven are registered trademarks of
Health Level Seven, Inc. Reg. U.S. Pat & TM Off
Alignment Among the Various Specs
v3 specs and CDA are all based the RIM CDA GTR-IG will be based on CDA R3
Depending on the “right side” of R3, if it allows RIM-based domain models, then alignment is trivial
v3-v2 alignment: Proposal: represent semantics with v3 and
implement it in various ways, one of which is v2; develop an “v2 ITS” for the v3 models
See proposal made by Amnon in a separate presentation(click here to see that presentation)
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IHIC 2010
© 2002-2007 Health Level Seven ®, Inc. All Rights Reserved.
HL7 and Health Level Seven are registered trademarks of
Health Level Seven, Inc. Reg. U.S. Pat & TM Off
Summary
Small group coping with v3, v2 and CDA
Clinical & Research environments
Genetic Variation - Normative CMET Vocabulary harmonization's (facilitator is back to activity)
Timing confusing: collecting specimen, extracting genetic material, identifying genomic observations, interpretation
Entry point into a choice box
CDA GTR through OHT CDA Editor
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IHIC 2010
© 2002-2007 Health Level Seven ®, Inc. All Rights Reserved.
HL7 and Health Level Seven are registered trademarks of
Health Level Seven, Inc. Reg. U.S. Pat & TM Off
The End
• Thank you for your attention…
• Questions? Contact Amnon at
• Comments of general interest should be
posted to
the CG mailing list at
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