Genomics Reporting Implementation Guide
2.0.0 - trial-use
Genomics Reporting Implementation Guide
2.0.0 - trial-use
This page is part of the Genetic Reporting Implementation Guide (v2.0.0: STU 2) based on FHIR R4. This is the current published version. For a full list of available versions, see the Directory of published versions 
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h2><span title=\"Codes: {https://hgsc.bcm.edu/lab-test-codes/ emerge-seq-ngs-pnl}\">emerge-seq-ngs-pnl</span> (<span title=\"Codes: {http://terminology.hl7.org/CodeSystem/v2-0074 GE}\">Genetics</span>) </h2><table class=\"grid\"><tr><td>Subject</td><td><b>Adam B. Everyman </b> male, DoB: 1951-01-20 ( Medical Record Number: m123 (USUAL))</td></tr><tr><td>When For</td><td>2020-01-01 12:00:00-0500</td></tr><tr><td>Reported</td><td>2020-01-01 12:00:00-0500</td></tr></table><p><b>Report Details</b></p><table class=\"grid\"><tr><td><b>Code</b></td><td><b>Value</b></td><td><b>Note</b></td><td><b>When For</b></td></tr><tr><td><a href=\"Observation-TxImp01.html\"><span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td></td><td></td><td></td></tr><tr><td><a href=\"Observation-TxImp02.html\"><span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td></td><td></td><td></td></tr><tr><td><a href=\"Observation-TxImp03.html\"><span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td></td><td></td><td></td></tr><tr><td><a href=\"Observation-TxImp04.html\"><span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td></td><td></td><td></td></tr><tr><td><a href=\"Observation-TxImp05.html\"><span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td></td><td></td><td></td></tr><tr><td><a href=\"Observation-TxImp06.html\"><span title=\"Codes: {http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs therapeutic-implication}\">Therapeutic Implication</span></a></td><td></td><td></td><td></td></tr><tr><td><a href=\"Observation-Pgx-geno-1001.html\"><span title=\"Codes: {http://loinc.org 84413-4}\">Genotype display name</span></a></td><td><span title=\"Codes: {http://www.ncbi.nlm.nih.gov/clinvar 638797}\">CYP2C19*2/*2</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-geno-1003.html\"><span title=\"Codes: {http://loinc.org 84413-4}\">Genotype display name</span></a></td><td><span title=\"Codes: \">VKORC1 rs9923231 C/T</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-geno-1002.html\"><span title=\"Codes: {http://loinc.org 84413-4}\">Genotype display name</span></a></td><td><span title=\"Codes: \">CYP2C9*1/*1</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1011.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1012.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1013.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1014.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1015.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1016.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1017.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1018.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td></td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1019.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td>This variant was confirmed with SANGER sequencing</td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1020.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td>This variant was confirmed with SANGER sequencing</td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-Pgx-var-1021.html\"><span title=\"Codes: {http://loinc.org 69548-6}\">Genetic variant assessment</span></a></td><td><span title=\"Codes: {http://loinc.org LA9633-4}\">Present</span></td><td>This variant was confirmed with SANGER sequencing</td><td>2020-01-01</td></tr><tr><td><a href=\"Observation-RegionStudiedPGx1.html\"><span title=\"Codes: {http://loinc.org 53041-0}\">DNA region of interest panel</span></a></td><td></td><td></td><td></td></tr><tr><td><a href=\"Observation-RegionStudiedPGx2.html\"><span title=\"Codes: {http://loinc.org 53041-0}\">DNA region of interest panel</span></a></td><td></td><td></td><td></td></tr><tr><td><a href=\"Observation-RegionStudiedPGx3.html\"><span title=\"Codes: {http://loinc.org 53041-0}\">DNA region of interest panel</span></a></td><td></td><td></td><td></td></tr><tr><td><a href=\"Observation-OverallInterpExample2.html\"><span title=\"Codes: {http://loinc.org 51968-6}\">Discrete variation analysis overall interpretation</span></a></td><td><span title=\"Codes: {http://loinc.org LA6576-8}\">Positive</span></td><td></td><td></td></tr></table></div>"
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
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"display" : "No clopidogrel"
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},
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference" : {
"reference" : "Task/PGxRecEx02",
"display" : "No voriconazole"
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},
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference" : {
"reference" : "Task/PGxRecEx03",
"display" : "50% citalopram"
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference" : {
"reference" : "Task/PGxRecEx04",
"display" : "50% escitalopram"
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference" : {
"reference" : "Task/PGxRecEx04",
"display" : "50% amitriptyline"
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"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-file",
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"text" : "This test was developed and its performance determined by this laboratory. It has not been cleared or approved by U.S. Food and Drug Administration.\nSince FDA Approval is not required for clinical use of this test, this laboratory has established and validated the test's accuracy and precision,\npursuant to the requirement of CLIA '88. This laboratory is licensed and/or accredited under CLIA and CAP (CAP# xxxxxxx / CLIA# xxxxxxxxxx)."
}
}
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"reference" : "ServiceRequest/eMERGEServiceRequest"
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"coding" : [
{
"system" : "https://hgsc.bcm.edu/lab-test-codes/",
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"subject" : {
"reference" : "Patient/CGPatientExample01"
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{
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"display" : "CYP2C19*2/*2"
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"reference" : "Observation/Pgx-geno-1003",
"display" : "VKORC1 rs9923231 C/T"
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{
"reference" : "Observation/Pgx-geno-1002",
"display" : "CYP2C9*1/*1"
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{
"reference" : "Observation/Pgx-var-1011",
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{
"reference" : "Observation/Pgx-var-1012",
"display" : "NC_000010.10(CYP2C19):g.96522463A="
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{
"reference" : "Observation/Pgx-var-1013",
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{
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"display" : "NC_000010.10(CYP2C19):g.96540410G>A"
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"display" : "NC_000010.10(CYP2C19):g.96541616G="
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{
"reference" : "Observation/Pgx-var-1017",
"display" : "NC_000010.10(CYP2C19):g.96541756T="
},
{
"reference" : "Observation/Pgx-var-1018",
"display" : "NC_000010.10(CYP2C19):g.96612495C="
},
{
"reference" : "Observation/Pgx-var-1019",
"display" : "NC_000016.9(VKORC1):g.31096368C>T"
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{
"reference" : "Observation/Pgx-var-1020",
"display" : "NC_000010.10(CYP2C9):g.96702047C="
},
{
"reference" : "Observation/Pgx-var-1021",
"display" : "NC_000010.10(CYP2C9):g.96741053A="
},
{
"reference" : "Observation/RegionStudiedPGx1",
"display" : "CYP2C19"
},
{
"reference" : "Observation/RegionStudiedPGx2",
"display" : "CYP2C9"
},
{
"reference" : "Observation/RegionStudiedPGx3",
"display" : "VKORC1"
},
{
"reference" : "Observation/OverallInterpExample2",
"display" : "gene-drug interactions found."
}
]
}
IG © 2022+ HL7 Clinical Genomics Working Group. Package hl7.fhir.uv.genomics-reporting#2.0.0 based on FHIR 4.0.1. Generated 2022-05-09
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