Genomics Reporting Implementation Guide (STU1)

This page is part of the Genetic Reporting Implementation Guide (v1.0.0: STU 1) based on FHIR R4. The current version which supercedes this version is 2.0.0. For a full list of available versions, see the Directory of published versions

Example - High Risk Allele (HLA-B*15:02)

Format(s):

Narrative view

Bundle HLAB1502-pgx-example of type transaction


Entry 1 - Full URL = http://example.org/fhir/DiagnosticReport/pgx-report

Response:

POST DiagnosticReport

Resource DiagnosticReport:

Generated Narrative with Details

id: pgx-report

meta:

basedOn: ServiceRequest/pgx-request

status: final

code: Master HL7 genetic variant reporting panel (Details : {LOINC code '81247-9' = 'Master HL7 genetic variant reporting panel)

subject: Patient/patient

effective: Jan 1, 2016, 12:00:00 AM

issued: Mar 6, 2018, 5:00:00 AM

performer: Organization/lab

result:

  • genetics impact for medication metabolism accessment
  • Observation/genotype-pgx-example

Entry 2 - Full URL = http://example.org/fhir/Patient/patient

Response:

POST Patient

Resource Patient:

This would contain patient identifiers, demographics, etc.

Entry 3 - Full URL = http://example.org/fhir/Specimen/specimen

Response:

POST Patient

Resource Specimen:

TODO

Entry 4 - Full URL = http://example.org/fhir/Organization/lab

Response:

POST Organization

Resource Organization:

TODO

Entry 5 - Full URL = http://example.org/fhir/ServiceRequest/pgx-request

Response:

POST ServiceRequest

Resource ServiceRequest:


Entry 6 - Full URL = http://example.org/fhir/Observation/medication-high-risk

Response:

POST Observation

Resource Observation:


Entry 7 - Full URL = http://example.org/fhir/Observation/genotype-pgx-example

Response:

POST Observation

Resource Observation:

Generated Narrative with Details

id: genotype-pgx-example

meta:

status: final

category: Laboratory (Details : {http://terminology.hl7.org/CodeSystem/observation-category code 'laboratory' = 'Laboratory)

code: genotype display name (Details : {LOINC code '84413-4' = 'Genotype display name', given as 'genotype display name'})

effective: Jan 1, 2018, 12:00:00 AM

issued: Mar 6, 2018, 5:00:00 AM

value: HLA-B*15:02 (Details : {https://www.pharmvar.org/ code 'HLA-B*15:02' = 'HLA-B*15:02', given as 'HLA-B*15:02'})

specimen: Specimen/specimen

Components

-CodeValue[x]
*Gene studied ID (Details : {LOINC code '48018-6' = 'Gene studied [ID]', given as 'Gene studied ID'})HLA-B (Details : {http://www.genenames.org code 'HGNC:4932' = 'HGNC:4932', given as 'HLA-B'})

Entry 8 - Full URL = http://example.org/fhir/Task/med-usage-impact-task-pgx-example

Response:

POST Task

Resource Task:

Generated Narrative with Details

id: med-usage-impact-task-pgx-example

meta:

status: requested

intent: proposal

code: Any Increase does Recommendation Text from the provider (Details : {LOINC code 'LA26421-0' = 'Consider alternative medication', given as 'Consider alternative medication'})

description: Patients positive for this allele should not be treated with CBZ, unless the benefits clearly outweigh the risk. Therapy should be discontinued immediately if symptoms of SJS or TEN develop. Alternative medication should be used as first line therapy. Consideration in the choice for alternative medications should be given to potential cross-reactivity with structurally similar aromatic antiepileptic drugs such as oxcarbazepine, phenytoin, fosphenytoin and lamotrigine, which can also moderately increase risk for SJS/TEN in association with HLA-B*15:02 positivity.

focus: MedicationStatement/current-med-example

for: Patient/patient

reasonReference: Observation/medication-high-risk


Entry 9 - Full URL = http://example.org/fhir/MedicationStatement/current-med-example

Response:

POST MedicationStatement

Resource MedicationUsage:

Generated Narrative with Details

id: current-med-example

meta:

status: unknown

medication: Carbamazepine (Details : {RxNorm code '2002' = 'Carbamazepine', given as 'Carbamazepine'})

subject: Patient/patient