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FHIR IG analytics

Packagehl7.fhir.uv.genomics-reporting.r4
Resource TypeDiagnosticReport
IdDiagnosticReport-PGxGenomicReportEMERGE.json
FHIR VersionR4

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Narrative

Note: links and images are rebased to the (stated) source

Generated Narrative: DiagnosticReport PGxGenomicReportEMERGE

Genetic analysis report (Genetics)

SubjectAdam B. Everyman Male, DoB: 1951-01-20 ( Medical Record Number: m123 (use: usual, ))
When For2020-01-01 00:00:00-0500
Reported2020-01-01 00:00:00-0500
Performer Organization some lab

Report Details

CodeValueFlagsNoteWhen For
Therapeutic ImplicationFinal2019-04-01
Therapeutic ImplicationFinal2019-04-01
Therapeutic ImplicationFinal2019-04-01
Therapeutic ImplicationFinal2019-04-01
Therapeutic ImplicationFinal2019-04-01
Therapeutic ImplicationFinal2019-04-01
Genotype display nameCYP2C19*2/*2Final2019-04-01
Genotype display nameVKORC1 rs9923231 C/TFinal2019-04-01
Genotype display nameCYP2C9*1/*1Final2019-04-01
Genetic variant assessmentPresentFinal2020-01-01
Genetic variant assessmentPresentFinal2019-04-01
Genetic variant assessmentPresentFinal2019-04-01
Genetic variant assessmentPresentFinal2019-04-01
Genetic variant assessmentPresentFinal2019-04-01
Genetic variant assessmentPresentFinal2019-04-01
Genetic variant assessmentPresentFinal2019-04-01
Genetic variant assessmentPresentFinal2019-04-01
Genetic variant assessmentPresentFinalThis variant was confirmed with SANGER sequencing2019-04-01
Genetic variant assessmentPresentFinalThis variant was confirmed with SANGER sequencing2019-04-01
Genetic variant assessmentPresentFinalThis variant was confirmed with SANGER sequencing2019-04-01

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:

  • Positive

Source1

{
  "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"
        }
      ]
    }
  ]
}