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

## Example Procedure: genomicstudy-trio2

Page standards status: Informative

Profile: Genomic Study

Genomic Study Analysis Extension: Procedure: extension = GRCh38,->Father Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 6789-11111 (use: temp, )),->Mother Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 0987-11111 (use: temp, )),Parental Sequence Variation Detection Using Next Generation Sequencing,->Procedure Sequencing of entire coding region of gene (procedure),,,,; instantiatesUri = https://pubmed.ncbi.nlm.nih.gov/33927380/; status = completed; category = Laboratory; performed[x] = 2023-10-01

Genomic Study Referrer Extension: Practitioner Jane Doel

identifier: `http://example.org/identifiers/genomicstudies`/urn:uuid:1111-1111-1111-1113 (use: temp, )

status: Completed

category: Laboratory

code: Trio Analysis

subject: Child Denovo (official) (no stated gender), DoB Unknown ( Medical record number: 1234-11111 (use: temp, ))

performed: 2023-10-01

asserter: Practitioner Jane Doel

note:

> De novo mutation study of the patient. The Prenatal Trio Whole Exome Sequencing (Prenatal Trio WES) test is ordered by a physician and must be accompanied with a consent form and detailed clinical information. In general, the test is used when prenatal imaging detects an anomaly that strongly suggests that there is an underlying genetic etiology. Prenatal Trio WES is often considered only after fetal chromosome microarray analysis has been non-diagnostic.