Clinical Genomics Resource Incubator
0.1.0-ci-build - CI Build World

Clinical Genomics Resource Incubator, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 0.1.0-ci-build built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/HL7/cg-incubator/ and changes regularly. See the Directory of published versions

Example GenomicStudy: Genomic Study PGx Example

Page standards status: Informative

Language: en

identifier: http://example.org/identifiers/genomicstudies/urn:uuid:pgx-study-0001 (use: temp, )

status: Available

type: Molecular genetic test (procedure)

subject: Adam B. Everyman (official) Male, DoB: 1951-01-20 ( Medical record number: m123 (use: usual, period: 2021-01-01 --> (ongoing)))

startDate: 2021-01-01

basedOn: ServiceRequest

interpreter: Practitioner Jane Doel

Reasons

-Concept
*Treatment completed (situation)

note:

PGX panel ordered prior to initiating warfarin therapy to guide dosing based on CYP2C9 and VKORC1 genotype.

description:

Pharmacogenomics sequencing panel targeting protein-coding and exon-splicing regions of CYP2C19, CYP2C9, and VKORC1 to inform drug selection and dosing.

analysis

identifier: http://example.org/identifiers/genomicAnalyses/urn:uuid:pgx-analysis-0001 (use: temp, )

methodType: Sequence analysis of the entire coding region

changeType: SNV, copy_number_variation

genomeBuild: GRCh38

title: PGX Targeted Gene Panel - Sequencing Analysis

specimen: Specimen: identifier = http://example.org/identifiers/specimens#pgx-spec-001; status = available; type = Blood specimen (specimen); receivedTime = 2020-12-20 10:00:00+0000

date: 2021-01-01 01:01:10-0600

note:

Sequencing coverage of 100% achieved across all targeted regions.

Outputs

-FileType
*DocumentReference: identifier = http://example.org/identifiers/files#pgx-vcf-001; status = current; docStatus = final; description = VCF file containing PGX variant calls for CYP2C19, CYP2C9, and VKORC1; securityLabel = RestrictedVCF

Performers

-ActorRole
*Practitioner Jane Doel Performer

Devices

-DeviceFunction
*Device: identifier = http://example.org/identifiers/devices#11111; status = active; manufacturer = Illumina; type = Device (physical object)Sequencing