GenomicStudy
The genomic analysis of a patient or specimen: whole-genome sequencing, exome, targeted panel. The FHIR entry point of precision medicine.
Purpose
GenomicStudy groups the parameters and outputs of a genomic study: analysis type, platform, kit, variant-calling parameters, sequencing duration, references to FASTQ/VCF/BAM files. It pivots between the medical order (ServiceRequest) and individual variants (MolecularSequence).
Key elements
| Field | Type | Cardinality | Role |
|---|---|---|---|
identifier | Identifier[] | 0..* | Study identifiers. |
status | code | 1..1 | `registered`, `available`, `cancelled`, `entered-in-error`, `unknown`. |
type | CodeableConcept[] | 0..* | Analytical type (WGS, WES, panel). |
subject | Reference(Patient | Group | Substance | BiologicallyDerivedProduct | NutritionProduct) | 1..1 | Analysed subject. |
encounter | Reference(Encounter) | 0..1 | Linked encounter. |
startDate | dateTime | 0..1 | Analysis start date. |
basedOn | Reference(ServiceRequest | Task)[] | 0..* | Originating request. |
referrer | Reference(Practitioner | PractitionerRole) | 0..1 | Referring provider. |
interpreter | Reference(Practitioner | PractitionerRole | Device)[] | 0..* | Interpreting biologist. |
reason | CodeableReference(Condition | Observation)[] | 0..* | Medical reason. |
instantiatesCanonical | canonical(PlanDefinition) | 0..1 | Instantiated protocol. |
analysis | BackboneElement[] | 0..* | Technical details (kit, platform, parameters). |
JSON example
{
"resourceType": "GenomicStudy",
"id": "example-wgs",
"identifier": [{
"system": "https://hospital.example.org/genomics",
"value": "GS-2026-04501"
}],
"status": "available",
"type": [{
"coding": [{
"system": "http://snomed.info/sct",
"code": "726502003",
"display": "Whole genome sequencing"
}]
}],
"subject": {
"reference": "Patient/oncology-12345"
},
"encounter": {
"reference": "Encounter/onc-visit-789"
},
"startDate": "2026-05-15",
"referrer": {
"reference": "Practitioner/oncogenetician-001"
},
"reason": [{
"concept": {
"coding": [{
"system": "http://snomed.info/sct",
"code": "254837009",
"display": "Malignant tumor of breast"
}]
}
}],
"analysis": [{
"methodType": [{
"coding": [{
"system": "http://hl7.org/fhir/genomicstudy-methodtype",
"code": "wgs-trio-analysis"
}]
}],
"performer": [{
"actor": {
"reference": "Organization/genomics-lab"
}
}]
}]
}Common pitfalls
- No basedOn ServiceRequest: total disconnect from the medical order — ethical issue.
- Missing references to FASTQ/VCF files: non-reproducible analysis.
- Wrong SNOMED for analysis type: breaks cross-lab aggregation.
Related resources
- molecularsequence — raw sequence.
- servicerequest — genomic order.
- diagnosticreport — report.
- specimen — source specimen.