Genomics Reporting Implementation Guide
4.0.0-cibuild - CI Build

Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 4.0.0-cibuild 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

## OperationDefinition: Find Population Treatment Implications

Official URL: http://hl7.org/fhir/uv/genomics-reporting/OperationDefinition/find-population-tx-implications | Version: 4.0.0-cibuild
Standards status: Trial-use | Maturity Level: 2 | Computable Name: FindPopulationTxImplications

Retrieve count or list of patients having therapeutic implications.

### Description

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.

### Parameters

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

### Notes:

#### Error Codes

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

#### Examples

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.

    GET .../$find-population-tx-implications?conditions=http://snomed.info/sct|254637007&includePatientList=true

See example output.