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Narrative

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

Generated Narrative: DiagnosticReport DiagnosticReport-ctDNA

version: 1.0

Profile: Diagnostic Report

Genetic report (Genetics)

Subject	Theon SHEFFIELD (official) Male, DoB: 1986-09-12 ( Patient internal identifier)
Relevant Time	2025-10-14 15:59:16+0000
Performer	NW GMSA (Identifier: ODS Organisation Code/699X0)
Identifier	https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier/T26-59XG
Presented Form	application/pdf @ urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f

Report Details

Code	Value	Flags	Note	Relevant Time
Genetic variant assessment	Present	Final	ILLUSTRATIVE VALUES ONLY. The allelic frequency component (81258-6) is the field of primary clinical interest for a dPCR ctDNA result: it carries the mutant-allele fraction quantified directly by the assay (droplet/bead-positive fraction, Poisson-corrected), which is what a clinician uses to gauge ctDNA burden and track it serially — analogous to how VAF is used from NGS, but here derived from a targeted few-plex assay rather than sequencing depth.	2026-07-13 10:37:26+0000
DNA region of interest panel		Final	ILLUSTRATIVE: represents that the digital PCR assay interrogated only the EGFR exon 20 T790M hotspot position (and, in a multiplexed panel, a small number of other named hotspots such as exon 19 deletions / L858R) — not the full coding sequence of EGFR. Unlike NGS, a negative dPCR result only rules out variants at the specific positions named here; it should not be read as 'EGFR negative' more broadly. Coordinate/region detail (start/end, genome build) is omitted from this illustrative example and should be populated from the assay's validated target list in a real implementation.	2026-07-13 10:37:26+0000

Coded Conclusions:

• TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION

Source1

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  "resourceType": "DiagnosticReport",
  "id": "DiagnosticReport-ctDNA",
  "meta": {
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    "profile": [
      "https://fhir.nwgenomics.nhs.uk/StructureDefinition/DiagnosticReport"
    ]
  },
  "text": {
    "status": "generated",
    "div": "<!-- snip (see above) -->"
  },
  "identifier": [
    {
      "system": "https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier",
      "value": "T26-59XG",
      "assigner": {
        "identifier": {
          "system": "https://fhir.nhs.uk/Id/ods-organization-code",
          "value": "699X0"
        }
      }
    }
  ],
  "basedOn": [
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      "reference": "urn:uuid:6e26d6b3-490e-4348-9d6c-37281567d6ec",
      "type": "ServiceRequest",
      "identifier": {
        "type": {
          "coding": [
            {
              "system": "http://terminology.hl7.org/CodeSystem/v2-0203",
              "code": "FILL"
            }
          ]
        },
        "system": "https://fhir.nwgenomics.nhs.uk/iGene/ReportIdentifier",
        "value": "T26-59XG",
        "assigner": {
          "identifier": {
            "system": "https://fhir.nhs.uk/Id/ods-organization-code",
            "value": "699X0"
          }
        }
      }
    }
  ],
  "status": "final",
  "category": [
    {
      "coding": [
        {
          "system": "http://terminology.hl7.org/CodeSystem/v2-0074",
          "code": "GE",
          "display": "Genetics"
        }
      ]
    }
  ],
  "code": {
    "coding": [
      {
        "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
        "code": "M4.14"
      },
      {
        "system": "http://snomed.info/sct",
        "code": "1054161000000101",
        "display": "Genetic report"
      }
    ]
  },
  "subject": {
    "reference": "urn:uuid:2160525b-0168-4f40-8ebf-9b053052a62c",
    "identifier": {
      "system": "https://fhir.nhs.uk/Id/nhs-number",
      "value": "9737873858"
    },
    "display": "Theon SHEFFIELD"
  },
  "effectiveDateTime": "2025-10-14T15:59:16+00:00",
  "performer": [
    {
      "type": "Organization",
      "identifier": {
        "system": "https://fhir.nhs.uk/Id/ods-organization-code",
        "value": "699X0"
      },
      "display": "NW GMSA"
    }
  ],
  "resultsInterpreter": [
    {
      "display": "Jonathan Edgerley"
    }
  ],
  "result": [
    {
      "reference": "urn:uuid:00c22e97-a226-4845-b17a-e24ec1f4f77a"
    },
    {
      "reference": "urn:uuid:a151b1ed-5aef-4c36-af50-987cfbd5bad4"
    }
  ],
  "conclusionCode": [
    {
      "coding": [
        {
          "system": "https://fhir.nwgenomics.nhs.uk/CodeSystem/GenomicTestOutcomeCode",
          "code": "431",
          "display": "TARGET DETECTED AT A LEVEL REQUIRING CLINICAL ACTION"
        }
      ]
    }
  ],
  "presentedForm": [
    {
      "contentType": "application/pdf",
      "language": "en-GB",
      "url": "urn:uuid:d6eeedd1-92d3-45b9-bf33-6401e804425f",
      "title": "ctDNA Genomic Report for Theon Sheffield"
    }
  ]
}