Genomics Reporting Implementation Guide
3.0.0 - STU3 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 3.0.0 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

Resource Profile: TherapeuticImplication - Detailed Descriptions

Active as of 2024-12-12

Definitions for the therapeutic-implication resource profile.

Guidance on how to interpret the contents of this table can be found here

0. Observation
ShortTherapeutic Implication
2. Observation.code
Shorttherapeutic-implication
Pattern Value{
  "coding" : [{
    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
    "code" : "therapeutic-implication"
  }]
}
4. Observation.component:therapeutic-implication
Slice Nametherapeutic-implication
Definition

A predicted ramification based on the presence of associated molecular finding(s). Ramifications may include alterations in drug metabolism (or pharmacokinetics) that determine the concentration of the drug, prodrug, and/or break-down products over time; alterations in drug efficacy (or pharmacodynamics) that determine how effective a drug is at a given concentration; alterations that alter the risk of adverse drug events, or other types of implications that indicate altered responsiveness to other types of therapies.

ShortTherapeutic Implication
Control0..*
6. Observation.component:therapeutic-implication.extension:workflow-relatedArtifactComponent
Slice Nameworkflow-relatedArtifactComponent
8. Observation.component:therapeutic-implication.code
Shorttherapeutic-implication
Pattern Value{
  "coding" : [{
    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
    "code" : "therapeutic-implication"
  }]
}
10. Observation.component:therapeutic-implication.value[x]
ShortResponsive | Resistant | Poor metabolizer | Rapid metabolizer | Decreased function | Increased function | Does not meet eligibility criteria for clinical trial | ... (more)
Control1..?
BindingUnless not suitable, these codes SHALL be taken from Genetic Therapeutic Implications
(extensible to http://hl7.org/fhir/uv/genomics-reporting/ValueSet/genetic-therapeutic-implications-vs)
TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
12. Observation.component:phenotypic-treatment-context
Slice Namephenotypic-treatment-context
Definition

A condition whose treatment in medication-assessed or therapy-assessed is contextually impacted by the variant. A code set is not specified, but it is ideal to use terms related to medical findings. Some examples are SNOMED CT descendants of 'Clinical finding' (404684003), ICD-10-CM chapters 1-18 (codes starting with letters A-R), and all of Human Phenotype Ontology (HPO). For example, if an individual's variant affects the efficacy of imatinib in non-small cell lung cancer, a valid response from SNOMED CT would be 'Non-small cell lung cancer (code 254637007)'.

ShortPhenotypic treatment context
Control0..*
14. Observation.component:phenotypic-treatment-context.extension:workflow-relatedArtifactComponent
Slice Nameworkflow-relatedArtifactComponent
16. Observation.component:phenotypic-treatment-context.code
Short81259-4
Pattern Value{
  "coding" : [{
    "system" : "http://loinc.org",
    "code" : "81259-4"
  }]
}
18. Observation.component:phenotypic-treatment-context.value[x]
ShortContextual phenotype/condition code
Control1..?
Binding

Binding not yet defined (examples: SNOMED CT Clinical findings, ICD-10-CM chapters 1-18, HPO terms)

TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
20. Observation.component:medication-assessed
Slice Namemedication-assessed
Definition

The codified medication whose implication is being described.

ShortMedication Assessed
Control0..*
Requirements

If this component is used, it should not conflict with the extension also named 'medication-assessed' which allows for more detailed medication data to be shared.

22. Observation.component:medication-assessed.extension:workflow-relatedArtifactComponent
Slice Nameworkflow-relatedArtifactComponent
24. Observation.component:medication-assessed.extension:medication-assessed-reference
Slice Namemedication-assessed-reference
Control0..*
TypeExtension(Medication Assessed reference to a FHIR resource) (Extension Type: Reference(Medication, MedicationKnowledge))
Requirements

NOTE - If this extension is used, it SHALL NOT conflict with the code delivered in the component.valueCodeableConcept.

26. Observation.component:medication-assessed.code
Short51963-7
Pattern Value{
  "coding" : [{
    "system" : "http://loinc.org",
    "code" : "51963-7"
  }]
}
28. Observation.component:medication-assessed.value[x]
ShortMedication code
Control1..?
Binding

Binding not yet defined (RxNorm or similar)

TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]
30. Observation.component:therapy-assessed
Slice Nametherapy-assessed
Definition

The non-medication therapy (e.g., altered diet, radiation therapy, surgery) implicated with respect to the related finding(s) and cancer/phenotypic treatment context

ShortNon-medication therapy assessed
Control0..*
32. Observation.component:therapy-assessed.extension:workflow-relatedArtifactComponent
Slice Nameworkflow-relatedArtifactComponent
34. Observation.component:therapy-assessed.extension:therapy-assessed-reference
Slice Nametherapy-assessed-reference
Control0..*
TypeExtension(Therapy Assessed reference to a FHIR resource) (Extension Type: Reference(CarePlan, ResearchStudy, PlanDefinition))
Requirements

NOTE - If this extension is used, it SHALL NOT conflict with the code delivered in the component.valueCodeableConcept.

36. Observation.component:therapy-assessed.code
Shortassociated-therapy
Pattern Value{
  "coding" : [{
    "system" : "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/tbd-codes-cs",
    "code" : "associated-therapy"
  }]
}
38. Observation.component:therapy-assessed.value[x]
Control1..?
Binding

Binding not yet defined

TypeCodeableConcept
[x] NoteSeeChoice of Data Typesfor further information about how to use [x]