Genomics Reporting Implementation Guide
3.0.1-SNAPSHOT - Ballot International flag

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/genomics-reporting/ and changes regularly. See the Directory of published versions

Example Bundle: bundle-oncology-diagnostic

Generated Narrative: Bundle bundle-oncology-diagnostic

Bundle bundle-oncology-diagnostic of type transaction


Entry 1 - fullUrl = urn:uuid:d0b4affa-91d6-46d1-af01-b30d9f16ef6d

Resource Patient:

Generated Narrative: Patient Inline-Instance-for-oncology-diagnostic-1

Carrot John Mr Male, DoB: 1962-12-31 ( 1007)


Links:

Request:

POST Patient

Entry 2 - fullUrl = urn:uuid:a48256f8-db37-44e0-a0f6-d7af16c7c9ef

Resource Practitioner:

Generated Narrative: Practitioner Inline-Instance-for-oncology-diagnostic-2

identifier: 4654765876

name: Akerman Philip Prof

address: Castro Valley CA

Request:

POST Practitioner

Entry 3 - fullUrl = urn:uuid:a5d6a6a9-4859-480e-85b2-56974fef3b9d

Resource Specimen:

Generated Narrative: Specimen Inline-Instance-for-oncology-diagnostic-3

identifier: 076e1948-2217-11e9-94d8-12e241dc1f66

status: Available

subject: Bundle: type = transaction

Collections

-Collector
*Bundle: type = transaction

Request:

POST Specimen

Entry 4 - fullUrl = urn:uuid:40e85eda-4d31-4bd2-a5a0-c39d63f9824f

Resource Observation:

Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-4

status: Final

category: Laboratory, A characterization of a given biomarker observation., Genetics

code: Mutations/Megabase [# Ratio] in Tumor

subject: Bundle: type = transaction

effective: 2019-03-05

performer: Bundle: type = transaction

value: 25 Mutations/Megabase (Details: UCUM code1/1000000 = '1/1000000')

specimen: Bundle: type = transaction

Components

-CodeValue[x]
*A characterization of a given biomarker observation.molecular sequence adjacent category

Request:

POST Observation

Entry 5 - fullUrl = urn:uuid:16fdd5fc-e665-48af-99e4-48d603f3e12d

Resource Observation:

Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-5

status: Final

category: Laboratory, Genetics

code: Genetic variant assessment

subject: Bundle: type = transaction

effective: 2019-03-05

performer: Bundle: type = transaction

value: Present

method: Sequencing

specimen: Bundle: type = transaction

component

code: Human reference sequence assembly version

value: GRCh37

component

code: Genomic DNA change (gHGVS)

value: NC_000007.13:g.140453136A>T

component

code: Discrete genetic variant

value: Clinvar ID 13961

component

code: Amino acid change (pHGVS)

value: NP_004324.2:p.Val600Glu

component

code: Gene studied ID

value: BRAF

Request:

POST Observation

Entry 6 - fullUrl = urn:uuid:1bf9642d-fd1c-4819-8c5d-44fae4bad524

Resource Observation:

Generated Narrative: Observation Inline-Instance-for-oncology-diagnostic-6

status: Final

category: Laboratory, Genetics

code: Diagnostic Implication

subject: Bundle: type = transaction

effective: 2019-03-05

performer: Bundle: type = transaction

method: Computational analysis

specimen: Bundle: type = transaction

derivedFrom: Bundle: type = transaction

component

code: Genetic variation clinical significance [Imp]

value: Pathogenic

component

code: Level of Evidence

value: Very strong evidence pathogenic

component

code: Associated phenotype

value: melanoma

Request:

POST Observation

Entry 7 - fullUrl = urn:uuid:ad7a499b-a43b-4cc8-bf46-cac62d9ecae5

Resource DiagnosticReport:

Generated Narrative: DiagnosticReport Inline-Instance-for-oncology-diagnostic-7

Genetic analysis report (Genetics)

SubjectNot done yet
When For2019-03-05
Performer Bundle: type = transaction

Report Details

CodeValue

Request:

POST DiagnosticReport