FHIR IG analytics| Package | hl7.fhir.uv.genomics-reporting |
| Resource Type | DiagnosticReport |
| Id | DiagnosticReport-PGxGenomicReportEMERGE.json |
| FHIR Version | R4 |
No resources found
No resources found
Note: links and images are rebased to the (stated) source
Generated Narrative: DiagnosticReport PGxGenomicReportEMERGE
Profile: Genomic Report
| Subject | Adam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, )) |
| When For | 2020-01-01 00:00:00-0500 |
| Reported | 2020-01-01 00:00:00-0500 |
| Performer | Organization some lab |
Report Details
| Code | Value | Flags | Note | When For |
| Therapeutic Implication | Final | 2019-04-01 | ||
| Therapeutic Implication | Final | 2019-04-01 | ||
| Therapeutic Implication | Final | 2019-04-01 | ||
| Therapeutic Implication | Final | 2019-04-01 | ||
| Therapeutic Implication | Final | 2019-04-01 | ||
| Therapeutic Implication | Final | 2019-04-01 | ||
| Genotype display name | CYP2C19*2/*2 | Final | 2019-04-01 | |
| Genotype display name | VKORC1 rs9923231 C/T | Final | 2019-04-01 | |
| Genotype display name | CYP2C9*1/*1 | Final | 2019-04-01 | |
| Genetic variant assessment | Present | Final | 2020-01-01 | |
| Genetic variant assessment | Present | Final | 2019-04-01 | |
| Genetic variant assessment | Present | Final | 2019-04-01 | |
| Genetic variant assessment | Present | Final | 2019-04-01 | |
| Genetic variant assessment | Present | Final | 2019-04-01 | |
| Genetic variant assessment | Present | Final | 2019-04-01 | |
| Genetic variant assessment | Present | Final | 2019-04-01 | |
| Genetic variant assessment | Present | Final | 2019-04-01 | |
| Genetic variant assessment | Present | Final |
| 2019-04-01 |
| Genetic variant assessment | Present | Final |
| 2019-04-01 |
| Genetic variant assessment | Present | Final |
| 2019-04-01 |
Based on the genotype result, this patient is predicted to have a CYP2C19 poor metabolizer phenotype. This genotype information can be used by patients and clinicians as part of the shared decision-making process for several drugs metabolized by CYP2C19 including clopidogrel, voriconazole, amitriptyline, citalopram and escitalopram.
Coded Conclusions:
{
"resourceType": "DiagnosticReport",
"id": "PGxGenomicReportEMERGE",
"meta": {
"profile": [
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report"
]
},
"text": {
"status": "generated",
"div": "<!-- snip (see above) -->"
},
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-reference",
"valueReference": {
"reference": "Procedure/PGXGenomicStudy"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference": {
"reference": "Task/PGxRecEx01",
"display": "No clopidogrel"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference": {
"reference": "Task/PGxRecEx02",
"display": "No voriconazole"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference": {
"reference": "Task/PGxRecEx03",
"display": "50% citalopram"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference": {
"reference": "Task/PGxRecEx04",
"display": "50% escitalopram"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/recommended-action",
"valueReference": {
"reference": "Task/PGxRecEx04",
"display": "50% amitriptyline"
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-report-note",
"valueAnnotation": {
"extension": [
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/annotation-code",
"valueCodeableConcept": {
"coding": [
{
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/coded-annotation-types-cs",
"code": "test-disclaimer"
}
]
}
}
],
"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)."
}
}
],
"basedOn": [
{
"reference": "ServiceRequest/eMERGEServiceRequest"
}
],
"status": "final",
"category": [
{
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/v2-0074",
"code": "GE"
}
]
}
],
"code": {
"coding": [
{
"system": "http://loinc.org",
"code": "51969-4"
},
{
"system": "http://example.org/hgsc.bcm.edu/lab-test-codes/",
"code": "emerge-seq-ngs-pnl"
}
]
},
"subject": {
"reference": "Patient/CGPatientExample01"
},
"effectiveDateTime": "2020-01-01T00:00:00-05:00",
"issued": "2020-01-01T00:00:00-05:00",
"performer": [
{
"reference": "Organization/ExampleOrg"
}
],
"result": [
{
"reference": "Observation/TxImp01",
"display": "clopidogrel, poor metabolizer"
},
{
"reference": "Observation/TxImp02",
"display": "voriconazole, poor metabolizer"
},
{
"reference": "Observation/TxImp03",
"display": "citalopram, poor metabolizer"
},
{
"reference": "Observation/TxImp04",
"display": "escitalopram, poor metabolizer"
},
{
"reference": "Observation/TxImp05",
"display": "amitriptyline, poor metabolizer"
},
{
"reference": "Observation/TxImp06",
"display": "medium sensitivity to warfarin"
},
{
"reference": "Observation/Pgx-geno-1001",
"display": "CYP2C19*2/*2"
},
{
"reference": "Observation/Pgx-geno-1003",
"display": "VKORC1 rs9923231 C/T"
},
{
"reference": "Observation/Pgx-geno-1002",
"display": "CYP2C9*1/*1"
},
{
"reference": "Observation/Pgx-var-1011",
"display": "NC_000010.10(CYP2C19):g.96521657C="
},
{
"reference": "Observation/Pgx-var-1012",
"display": "NC_000010.10(CYP2C19):g.96522463A="
},
{
"reference": "Observation/Pgx-var-1013",
"display": "NC_000010.10(CYP2C19):g.96535173T="
},
{
"reference": "Observation/Pgx-var-1014",
"display": "NC_000010.10(CYP2C19):g.96535210G="
},
{
"reference": "Observation/Pgx-var-1015",
"display": "NC_000010.10(CYP2C19):g.96540410G>A"
},
{
"reference": "Observation/Pgx-var-1016",
"display": "NC_000010.10(CYP2C19):g.96541616G="
},
{
"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"
},
{
"reference": "Observation/Pgx-var-1020",
"display": "NC_000010.10(CYP2C9):g.96702047C="
},
{
"reference": "Observation/Pgx-var-1021",
"display": "NC_000010.10(CYP2C9):g.96741053A="
}
],
"conclusion": "Based on the genotype result, this patient is predicted to have a CYP2C19 poor metabolizer phenotype. This genotype information can be used by patients and clinicians as part of the shared decision-making process for several drugs metabolized by CYP2C19 including clopidogrel, voriconazole, amitriptyline, citalopram and escitalopram.",
"conclusionCode": [
{
"coding": [
{
"system": "http://loinc.org",
"code": "LA6576-8",
"display": "Positive"
}
]
}
]
}