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
Official URL: http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-tx-implications | Version: 3.0.0 | |||
Active as of 2024-11-24 | Computable Name: FindPopulationTxImplications |
Retrieve count or list of patients having therapeutic implications.
Retrieve count or list of patients having therapeutic implications. More specifically, this operation retrieves the count +/- list of patients that have therapeutic implications involving specific treatments and/or conditions, derived from specific variants/haplotypes/genotypes.
A patient meets numerator criteria if they have at least one therapeutic implication matching the query parameters.
As shown in the following picture, this operation can return previously instantiated implications and/or dynamically computed implications. Specific implementations can indicate their capabilities using a FHIR Capability Statement. Rules around the retention of dynamically computed implications are outside the scope of this operation, but a server could potentially instantiate those results based on the Therapeutic Implication, Diagnostic Implication, or Molecular Consequence FHIR profiles.
Dynamic computation of implications can return a large number of results (e.g. 'find therapeutic implications for cancer'). Results can be curtailed using additional operation parameters (e.g. 'find therapeutic implications for somatic variant NM_007294.4:c.5578del in breast cancer").
Population queries are designed to return a count of patients that match each item sought, with or without a list of patients matching the item(s) sought.
Generated Narrative: OperationDefinition find-population-tx-implications
Use | Name | Scope | Cardinality | Type | Binding | Documentation |
IN | variants | 0..* | string (string) | List of variants from which implications are derived. Must be in HGVS or SPDI format. | ||
IN | haplotypes | 0..* | string (token) | List of haplotypes from which implications are derived. Must be in token or codesystem|code format. | ||
IN | treatments | 0..* | string (token) | List of medications and/or other therapeutic interventions for which implications are sought. Must be in token or codesystem|code format. | ||
IN | conditions | 0..* | string (token) | List of conditions for which implications are sought. Must be in token or codesystem|code format. | ||
IN | genomicSourceClass | 0..1 | string (token) | Enables an App to limit results to those that are 'germline' or 'somatic'. Default is to include variants irrespective of genomic source class. | ||
IN | includePatientList | 0..1 | boolean | Include list of matching patients if set to true. Default=false. | ||
OUT | implications | 1..1 | ||||
OUT | implications.numerator | 1..1 | Quantity | Count of patients having this variant | ||
OUT | implications.denominator | 0..1 | Quantity | Count of patients in the cohort searched | ||
OUT | implications.subject | 0..* | string | Patient ID. Include if includePatientList=true |
Valid response codes are shown in the following table. Additional response codes (e.g. 5xx server error) may also be encountered.
Response Code | Description |
---|---|
200 | Successfully executed request |
400 | ERROR: Invalid query parameters |
404 | ERROR: Patient not found |
422 | ERROR: Failed LiftOver |
A health plan establishes a quality assurance program aimed at ensuring that patients with NSCLC who are candidates for molecularly guided treatment are properly identified.
To investigate, the plan queries a repository to obtain a list of patients that have a therapeutic implication involving NSCLC, irrespective of variants/haplotypes/genotypes from which the implication was derived.