This page is part of the FHIR Specification ~~(v3.0.2: STU 3).~~ (v3.5.0: R4 Ballot #2). The current version which supercedes this version is 5.0.0 . For a full list of available versions, see the Directory of published versions . Page versions: R4 R3
Diagnosticreport-genetics-example-2-familyhistory.json

Orders and Observations Work Group
Maturity Level : N/A
Ballot Status : Informative
Compartments : Device , Encounter , Patient , Practitioner
Raw JSON ( canonical form + also see JSON Format Specification )
An example of a genetics test report with Family member history
{
  "resourceType": "DiagnosticReport",

  "resourceType": "Bundle",

  "id": "dg2",
  "text": {
    "status": "generated",
    "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n          \n          \n          <h3>Genetic test Report for Marry Chalmers (MRN: 12345) </h3>\n          \n          <pre>\n              Gene                DNAVariation       Status        Interpretation\n              BRCA1                                 Negative\n              BRCA2                 185delAG        Positive         Pathogenic\n          </pre>\n          <p> Method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc </p>\n          <p> Issued: 2015-05-26T15:30:10+01:00</p>\n          <p> FamilyMemeberHistory: Mother </p>\n          <pre>\n              Gene                 DNAVariation      Status\n              BRCA2                 185delAG        Positive\n          </pre>\n          <p> Method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc </p>\n          \n      </div>"
  },
  "contained": [

  "type": "collection",
  "entry": [

    {
      "resourceType": "FamilyMemberHistory",
      "id": "f1-genetics",
      "extension": [
        {
          "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation",
          "valueReference": {
            "reference": "Observation/dgf1"

      "fullUrl": "https://example.com/base/DiagnosticReport/dg2",
      "resource": {
        "resourceType": "DiagnosticReport",
        "id": "dg2",
        "text": {
          "status": "generated",
          "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\">\n\t\t\t\t\t\t<h3>Genetic test Report for Marry Chalmers (MRN: 12345) </h3>\n\t\t\t\t\t\t<pre>\n              Gene                DNAVariation       Status        Interpretation\n              BRCA1                                 Negative\n              BRCA2                 185delAG        Positive         Pathogenic\n          </pre>\n\t\t\t\t\t\t<p> Method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc </p>\n\t\t\t\t\t\t<p> Issued: 2015-05-26T15:30:10+01:00</p>\n\t\t\t\t\t\t<p> FamilyMemeberHistory: Mother </p>\n\t\t\t\t\t\t<pre>\n              Gene                 DNAVariation      Status\n              BRCA2                 185delAG        Positive\n          </pre>\n\t\t\t\t\t\t<p> Method: BRACAnalysis CDx Offered by Myriad Genetic Laboratories, Inc </p>\n\t\t\t\t\t</div>"
        },
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/DiagnosticReport-geneticsFamilyMemberHistory",
            "valueReference": {
              "reference": "FamilyMemberHistory/f1-genetics"
            }

          }
        }
      ],
      "status": "completed",
      "patient": {
        "reference": "Patient/example"
      },
      "relationship": {
        "coding": [

        ],
        "status": "final",
        "category": {
          "coding": [
            {
              "system": "http://snomed.info/sct",
              "code": "15220000",
              "display": "Laboratory test"
            },
            {
              "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
              "code": "LAB"
            }
          ]
        },
        "code": {
          "coding": [
            {
              "system": "http://loinc.org",
              "code": "55233-1",
              "display": "Genetic analysis master panel"
            }
          ]
        },
        "subject": {
          "reference": "Patient/example",
          "display": "Peter James Chalmers(MRN: 12345)"
        },
        "effectiveDateTime": "2015-05-26T15:30:10+01:00",
        "issued": "2014-05-16T10:28:00+01:00",
        "performer": [

          {
            "system": "http://hl7.org/fhir/v3/RoleCode",
            "code": "MTH",
            "display": "Mother"

            "reference": "Practitioner/genetics-example2",
            "display": "Molecular Diagnostic Laboratory"
          }
        ],
        "specimen": [
          {
            "reference": "Specimen/genetics-example2",
            "display": "Molecular Specimen ID: MLD45-Z4-1234"
          }
        ],
        "result": [
          {
            "reference": "Observation/ob-genetics-3-1",
            "display": "Genetic analysis for BRAC -1"
          },
          {
            "reference": "Observation/ob-genetics-3-2",
            "display": "Genetic analysis for BRAC -2"

          }
        ]
      }
    }
  ],
  "extension": [
    {
      "url": "http://hl7.org/fhir/StructureDefinition/DiagnosticReport-geneticsFamilyMemberHistory",
      "valueReference": {
        "reference": "#f1-genetics"
      }
    }
  ],
  "status": "final",
  "category": {
    "coding": [
      {
        "system": "http://snomed.info/sct",
        "code": "15220000",
        "display": "Laboratory test"
      },
      {
        "system": "http://hl7.org/fhir/v2/0074",
        "code": "LAB"
      }
    ]
  },
  "code": {
    "coding": [
      {
        "system": "http://loinc.org",
        "code": "55233-1",
        "display": "Genetic analysis master panel"
      }
    ]
  },
  "subject": {
    "reference": "Patient/example",
    "display": "Peter James Chalmers(MRN: 12345)"
  },
  "effectiveDateTime": "2015-05-26T15:30:10+01:00",
  "issued": "2014-05-16T10:28:00+01:00",
  "performer": [
    {
      "actor": {
        "reference": "Practitioner/genetics-example2",
        "display": "Molecular Diagnostic Laboratory"
      }
    }
  ],
  "specimen": [
    {
      "reference": "Specimen/genetics-example2",
      "display": "Molecular Specimen ID: MLD45-Z4-1234"
    }
  ],
  "result": [
    {
      "reference": "Observation/ob-genetics-3-1",
      "display": "Genetic analysis for BRAC -1"

    },
    {
      "reference": "Observation/ob-genetics-3-2",
      "display": "Genetic analysis for BRAC -2"

      "fullUrl": "https://example.com/base/FamilyMemberHistory/f1-genetics",
      "resource": {
        "resourceType": "FamilyMemberHistory",
        "id": "f1-genetics",
        "text": {
          "status": "generated",
          "div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><p><b>Generated Narrative with Details</b></p><p><b>id</b>: f1-genetics</p><p><b>status</b>: completed</p><p><b>patient</b>: <a>Patient/example</a></p><p><b>relationship</b>: Mother <span>(Details : {http://terminology.hl7.org/CodeSystem/v3-RoleCode code 'MTH' = 'mother', given as 'Mother'})</span></p></div>"
        },
        "extension": [
          {
            "url": "http://hl7.org/fhir/StructureDefinition/family-member-history-genetics-observation",
            "valueReference": {
              "reference": "Observation/dgf1"
            }
          }
        ],
        "status": "completed",
        "patient": {
          "reference": "Patient/example"
        },
        "relationship": {
          "coding": [
            {
              "system": "http://terminology.hl7.org/CodeSystem/v3-RoleCode",
              "code": "MTH",
              "display": "Mother"
            }
          ]
        }
      }

    }
  ]
}
Usage note: every effort has been made to ensure that the examples are correct and useful, but they are not a normative part of the specification.