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\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-1\" </p></div><p><b>identifier</b>: id: 1007</p><p><b>name</b>: Carrot John Mr </p><p><b>gender</b>: male</p><p><b>birthDate</b>: 1962-12-31</p><p><b>generalPractitioner</b>: <a href=\"#Practitioner_Inline-Instance-for-oncologyexamples-r4-2\">See above (urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef)</a></p></div>"
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"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-2\" </p></div><p><b>identifier</b>: id: 4654765876</p><p><b>name</b>: Akerman Philip Prof </p><p><b>address</b>: Castro Valley CA </p></div>"
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"id" : "Inline-Instance-for-oncologyexamples-r4-3",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-3\" </p></div><p><b>identifier</b>: id: 076e1948-2217-11e9-94d8-12e241dc1f66</p><p><b>status</b>: available</p><p><b>subject</b>: <a href=\"#Patient_Inline-Instance-for-oncologyexamples-r4-1\">See above (urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d)</a></p><h3>Collections</h3><table class=\"grid\"><tr><td>-</td><td><b>Collector</b></td></tr><tr><td>*</td><td><a href=\"#Practitioner_Inline-Instance-for-oncologyexamples-r4-2\">See above (urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef)</a></td></tr></table></div>"
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"id" : "Inline-Instance-for-oncologyexamples-r4-4",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-4\" </p></div><p><b>status</b>: final</p><p><b>code</b>: Tumor Mutational Burden <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ()</span></p><p><b>subject</b>: <a href=\"#Patient_Inline-Instance-for-oncologyexamples-r4-1\">See above (urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d)</a></p><p><b>performer</b>: <a href=\"#Practitioner_Inline-Instance-for-oncologyexamples-r4-2\">See above (urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef)</a></p><p><b>value</b>: 25 somatic variants per megabase of sequenced DNA<span style=\"background: LightGoldenRodYellow\"> (Details: UCUM code 1/1000000{Base} = '1/1000000{Base}')</span></p><p><b>specimen</b>: <a href=\"#Specimen_Inline-Instance-for-oncologyexamples-r4-3\">See above (urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d)</a></p></div>"
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"id" : "Inline-Instance-for-oncologyexamples-r4-5",
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-5\" </p></div><p><b>status</b>: final</p><p><b>code</b>: MSI status <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ()</span></p><p><b>subject</b>: <a href=\"#Patient_Inline-Instance-for-oncologyexamples-r4-1\">See above (urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d)</a></p><p><b>performer</b>: <a href=\"#Practitioner_Inline-Instance-for-oncologyexamples-r4-2\">See above (urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef)</a></p><p><b>value</b>: High</p><p><b>specimen</b>: <a href=\"#Specimen_Inline-Instance-for-oncologyexamples-r4-3\">See above (urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d)</a></p></div>"
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"valueString" : "High",
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"id" : "Inline-Instance-for-oncologyexamples-r4-6",
"meta" : {
"profile" : [
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-6\" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#69548-6)</span></p><p><b>subject</b>: <a href=\"#Patient_Inline-Instance-for-oncologyexamples-r4-1\">See above (urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d)</a></p><p><b>performer</b>: <a href=\"#Practitioner_Inline-Instance-for-oncologyexamples-r4-2\">See above (urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef)</a></p><p><b>value</b>: Present <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA9633-4)</span></p><p><b>method</b>: Sequencing <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA26398-0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_Inline-Instance-for-oncologyexamples-r4-3\">See above (urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d)</a></p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic DNA change (gHGVS) <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81290-9)</span></p><p><b>value</b>: 9:g.5073770G>T <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-v3-hgvs.html\">Human Genome Variation Society nomenclature</a>#9:g.5073770G>T)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48005-3)</span></p><p><b>value</b>: p.Val617Phe <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-v3-hgvs.html\">Human Genome Variation Society nomenclature</a>#p.Val617Phe)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change type <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48006-1)</span></p><p><b>value</b>: Missense <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6698-0)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48002-0)</span></p><p><b>value</b>: Germline <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6683-2)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied ID <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></p><p><b>value</b>: JAK2 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (geneId)</span></p></blockquote></div>"
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"resource" : {
"resourceType" : "Observation",
"id" : "Inline-Instance-for-oncologyexamples-r4-7",
"meta" : {
"profile" : [
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-7\" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-variant.html\">Variant</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Genetic variant assessment <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#69548-6)</span></p><p><b>subject</b>: <a href=\"#Patient_Inline-Instance-for-oncologyexamples-r4-1\">See above (urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d)</a></p><p><b>performer</b>: <a href=\"#Practitioner_Inline-Instance-for-oncologyexamples-r4-2\">See above (urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef)</a></p><p><b>value</b>: Present <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA9633-4)</span></p><p><b>method</b>: Sequencing <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA26398-0)</span></p><p><b>specimen</b>: <a href=\"#Specimen_Inline-Instance-for-oncologyexamples-r4-3\">See above (urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d)</a></p><blockquote><p><b>component</b></p><p><b>code</b>: Genomic DNA change (gHGVS) <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81290-9)</span></p><p><b>value</b>: 4:g.55972974T>A <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-v3-hgvs.html\">Human Genome Variation Society nomenclature</a>#4:g.55972974T>A)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change (pHGVS) <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48005-3)</span></p><p><b>value</b>: p.Gln472His <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-v3-hgvs.html\">Human Genome Variation Society nomenclature</a>#p.Gln472His)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Amino acid change type <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48006-1)</span></p><p><b>value</b>: Missense <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6698-0)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Genomic source class <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48002-0)</span></p><p><b>value</b>: Germline <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6683-2)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Gene studied ID <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#48018-6)</span></p><p><b>value</b>: KDR <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (geneId)</span></p></blockquote></div>"
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"reference" : "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d"
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{
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},
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{
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"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-11\" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-therapeutic-implication.html\">Therapeutic Implication</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Therapeutic Implication <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes-cs.html\">To Be Determined Codes</a>#therapeutic-implication)</span></p><p><b>subject</b>: <a href=\"#Patient_Inline-Instance-for-oncologyexamples-r4-1\">See above (urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d)</a></p><p><b>performer</b>: <a href=\"#Practitioner_Inline-Instance-for-oncologyexamples-r4-2\">See above (urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef)</a></p><p><b>method</b>: Computational analysis <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA26811-2)</span></p><p><b>specimen</b>: <a href=\"#Specimen_Inline-Instance-for-oncologyexamples-r4-3\">See above (urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d)</a></p><p><b>derivedFrom</b>: <a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-6\">See above (urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d)</a></p><blockquote><p><b>component</b></p><p><b>code</b>: Predicted Therapeutic Implication <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes-cs.html\">To Be Determined Codes</a>#predicted-therapeutic-implication)</span></p><p><b>value</b>: Responsive <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6677-4)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Level of Evidence <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#93044-6)</span></p><p><b>value</b>: Very strong evidence pathogenic <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30200-2)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Associated phenotype <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81259-4)</span></p><p><b>value</b>: Polycythemia vera (PV) <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ()</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Medication assessed <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#51963-7)</span></p><p><b>value</b>: SNX-5422 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ()</span></p></blockquote></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "therapeutic-implication",
"display" : "Therapeutic Implication"
}
]
},
"subject" : {
"reference" : "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d"
},
"performer" : [
{
"reference" : "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef"
}
],
"method" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA26811-2",
"display" : "Computational analysis"
}
]
},
"specimen" : {
"reference" : "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d"
},
"derivedFrom" : [
{
"reference" : "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "predicted-therapeutic-implication"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA6677-4",
"display" : "Responsive"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "93044-6",
"display" : "Level of Evidence"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA30200-2",
"display" : "Very strong evidence pathogenic"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81259-4"
}
]
},
"valueCodeableConcept" : {
"text" : "Polycythemia vera (PV)"
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "51963-7",
"display" : "Medication assessed"
}
]
},
"valueCodeableConcept" : {
"text" : "SNX-5422"
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:294f1401-e2eb-4df1-b6d2-09e1b7a6eca4",
"resource" : {
"resourceType" : "Observation",
"id" : "Inline-Instance-for-oncologyexamples-r4-12",
"meta" : {
"profile" : [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-12\" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-therapeutic-implication.html\">Therapeutic Implication</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Therapeutic Implication <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes-cs.html\">To Be Determined Codes</a>#therapeutic-implication)</span></p><p><b>subject</b>: <a href=\"#Patient_Inline-Instance-for-oncologyexamples-r4-1\">See above (urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d)</a></p><p><b>performer</b>: <a href=\"#Practitioner_Inline-Instance-for-oncologyexamples-r4-2\">See above (urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef)</a></p><p><b>method</b>: Computational analysis <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA26811-2)</span></p><p><b>specimen</b>: <a href=\"#Specimen_Inline-Instance-for-oncologyexamples-r4-3\">See above (urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d)</a></p><p><b>derivedFrom</b>: <a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-6\">See above (urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d)</a></p><blockquote><p><b>component</b></p><p><b>code</b>: Predicted Therapeutic Implication <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes-cs.html\">To Be Determined Codes</a>#predicted-therapeutic-implication)</span></p><p><b>value</b>: Responsive <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA6677-4)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Level of Evidence <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#93044-6)</span></p><p><b>value</b>: Very strong evidence pathogenic <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#LA30200-2)</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Associated phenotype <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81259-4)</span></p><p><b>value</b>: Polycythemia vera (PV) <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ()</span></p></blockquote><blockquote><p><b>component</b></p><p><b>code</b>: Medication assessed <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#51963-7)</span></p><p><b>value</b>: TG02 <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> ()</span></p></blockquote></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "therapeutic-implication",
"display" : "Therapeutic Implication"
}
]
},
"subject" : {
"reference" : "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d"
},
"performer" : [
{
"reference" : "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef"
}
],
"method" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA26811-2",
"display" : "Computational analysis"
}
]
},
"specimen" : {
"reference" : "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d"
},
"derivedFrom" : [
{
"reference" : "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d"
}
],
"component" : [
{
"code" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "predicted-therapeutic-implication"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA6677-4",
"display" : "Responsive"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "93044-6",
"display" : "Level of Evidence"
}
]
},
"valueCodeableConcept" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "LA30200-2",
"display" : "Very strong evidence pathogenic"
}
]
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81259-4"
}
]
},
"valueCodeableConcept" : {
"text" : "Polycythemia vera (PV)"
}
},
{
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "51963-7",
"display" : "Medication assessed"
}
]
},
"valueCodeableConcept" : {
"text" : "TG02"
}
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:294f1401-e2eb-4df1-b6d2-09e1b7a6ecb6",
"resource" : {
"resourceType" : "Observation",
"id" : "Inline-Instance-for-oncologyexamples-r4-14",
"meta" : {
"profile" : [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapeutic-implication"
]
},
"text" : {
"status" : "extensions",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-14\" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-therapeutic-implication.html\">Therapeutic Implication</a></p></div><p><b>Therapy Assessed</b>: <a name=\"PlanDefRuxolitinib\"> </a></p><blockquote><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"PlanDefRuxolitinib\" </p></div><p><b>name</b>: RuxolitinibPlan</p><p><b>status</b>: draft</p><p><b>description</b>: This is not a fully defined resource, just here as a place holder to show how a PlanDefinition could be packaged.</p></blockquote><p><b>status</b>: final</p><p><b>category</b>: Laboratory <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-observation-category.html\">Observation Category Codes</a>#laboratory)</span></p><p><b>code</b>: Therapeutic Implication <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"CodeSystem-tbd-codes-cs.html\">To Be Determined Codes</a>#therapeutic-implication)</span></p><p><b>subject</b>: <a href=\"#Patient_Inline-Instance-for-oncologyexamples-r4-1\">See above (urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d)</a></p><p><b>derivedFrom</b>: <a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-6\">See above (urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d)</a></p></div>"
},
"contained" : [
{
"resourceType" : "PlanDefinition",
"id" : "PlanDefRuxolitinib",
"name" : "RuxolitinibPlan",
"status" : "draft",
"description" : "This is not a fully defined resource, just here as a place holder to show how a PlanDefinition could be packaged."
}
],
"extension" : [
{
"url" : "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/therapy-assessed",
"valueReference" : {
"reference" : "#PlanDefRuxolitinib"
}
}
],
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/observation-category",
"code" : "laboratory"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
"code" : "therapeutic-implication",
"display" : "Therapeutic Implication"
}
]
},
"subject" : {
"reference" : "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d"
},
"derivedFrom" : [
{
"reference" : "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d"
}
]
},
"request" : {
"method" : "POST",
"url" : "Observation"
}
},
{
"fullUrl" : "urn:uuid:ad7a499b-a43b-4cc8-bf46-cac62d9ecae5",
"resource" : {
"resourceType" : "DiagnosticReport",
"id" : "Inline-Instance-for-oncologyexamples-r4-13",
"meta" : {
"profile" : [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomics-report"
]
},
"text" : {
"status" : "generated",
"div" : "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative</b></p><div style=\"display: inline-block; background-color: #d9e0e7; padding: 6px; margin: 4px; border: 1px solid #8da1b4; border-radius: 5px; line-height: 60%\"><p style=\"margin-bottom: 0px\">Resource \"Inline-Instance-for-oncologyexamples-r4-13\" </p><p style=\"margin-bottom: 0px\">Profile: <a href=\"StructureDefinition-genomics-report.html\">Genomics Report</a></p></div><p><b>status</b>: final</p><p><b>category</b>: Genetics <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"http://terminology.hl7.org/3.1.0/CodeSystem-v2-0074.html\">diagnosticServiceSectionId</a>#GE)</span></p><p><b>code</b>: Genetic analysis report <span style=\"background: LightGoldenRodYellow; margin: 4px; border: 1px solid khaki\"> (<a href=\"https://loinc.org/\">LOINC</a>#81247-9 \"Master HL7 genetic variant reporting panel\")</span></p><p><b>subject</b>: <a href=\"#Patient_Inline-Instance-for-oncologyexamples-r4-1\">See above (urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d)</a></p><p><b>performer</b>: <a href=\"#Practitioner_Inline-Instance-for-oncologyexamples-r4-2\">See above (urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef)</a></p><p><b>specimen</b>: <a href=\"#Specimen_Inline-Instance-for-oncologyexamples-r4-3\">See above (urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d)</a></p><p><b>result</b>: </p><ul><li><a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-6\">See above (urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d: SNV analysis for JAK2 variant)</a></li><li><a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-7\">See above (urn:uuid:772de7d7-e1bd-4183-bdb5-cea8eda317cd: SNV analysis for KDR variant)</a></li><li><a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-8\">See above (urn:uuid:b33eb7ec-d83e-49d2-b0f3-729d024ebe01: SNV analysis for ERBB4 variant)</a></li><li><a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-4\">See above (urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f: TMB value analysis)</a></li><li><a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-5\">See above (urn:uuid:64b91716-6431-41bd-8fd4-7ac99bebdee9: MSI status analysis)</a></li><li><a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-9\">See above (urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524: Therapy match result 1)</a></li><li><a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-10\">See above (urn:uuid:1301943b-55db-4adf-8355-3635f7268a1b: Therapy match result 2)</a></li><li><a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-11\">See above (urn:uuid:05713d1c-0df5-46d5-a5a9-2085eef56c20: Therapy match result 3)</a></li><li><a href=\"#Observation_Inline-Instance-for-oncologyexamples-r4-12\">See above (urn:uuid:294f1401-e2eb-4df1-b6d2-09e1b7a6eca4: Therapy match result 4)</a></li></ul></div>"
},
"status" : "final",
"category" : [
{
"coding" : [
{
"system" : "http://terminology.hl7.org/CodeSystem/v2-0074",
"code" : "GE"
}
]
}
],
"code" : {
"coding" : [
{
"system" : "http://loinc.org",
"code" : "81247-9",
"display" : "Master HL7 genetic variant reporting panel"
}
],
"text" : "Genetic analysis report"
},
"subject" : {
"reference" : "urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d"
},
"performer" : [
{
"reference" : "urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef"
}
],
"specimen" : [
{
"reference" : "urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d"
}
],
"result" : [
{
"reference" : "urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d",
"display" : "SNV analysis for JAK2 variant"
},
{
"reference" : "urn:uuid:772de7d7-e1bd-4183-bdb5-cea8eda317cd",
"display" : "SNV analysis for KDR variant"
},
{
"reference" : "urn:uuid:b33eb7ec-d83e-49d2-b0f3-729d024ebe01",
"display" : "SNV analysis for ERBB4 variant"
},
{
"reference" : "urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f",
"display" : "TMB value analysis"
},
{
"reference" : "urn:uuid:64b91716-6431-41bd-8fd4-7ac99bebdee9",
"display" : "MSI status analysis"
},
{
"reference" : "urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524",
"display" : "Therapy match result 1"
},
{
"reference" : "urn:uuid:1301943b-55db-4adf-8355-3635f7268a1b",
"display" : "Therapy match result 2"
},
{
"reference" : "urn:uuid:05713d1c-0df5-46d5-a5a9-2085eef56c20",
"display" : "Therapy match result 3"
},
{
"reference" : "urn:uuid:294f1401-e2eb-4df1-b6d2-09e1b7a6eca4",
"display" : "Therapy match result 4"
}
]
},
"request" : {
"method" : "POST",
"url" : "DiagnosticReport"
}
}
]
}
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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