Genomics Reporting Implementation Guide
3.0.0 - release International flag

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

Example Observation: therapuDrug1-interact-smn1-smn2

Generated Narrative: Observation therapuDrug1-interact-smn1-smn2

status: Final

category: Laboratory, Genetics

code: Therapeutic Implication

subject: A Newborn

effective: 2019-04-01

performer: Organization some lab

derivedFrom:

component

code: Associated phenotype

value: Spinal muscular atrophy (SMA)

component

code: Medication assessed

value: nusinersen (antisense oligonucleotide)

component

Related Artifact for Observation component: No display for RelatedArtifact (type: citation; url: https://pubmed.ncbi.nlm.nih.gov/29614695/)

code: Conclusion Text

value: Spinal muscular atrophy (SMA) is an autosomal recessive disease characterized by the degeneration of alpha motor neurons in the spinal cord, leading to muscular atrophy. SMA is caused by deletions or mutations in the survival motor neuron 1 gene (SMN1). In humans, a nearly identical copy gene, SMN2, is present. Because SMN2 has been shown to decrease disease severity in a dose-dependent manner, SMN2 copy number is predictive of disease severity...The overarching recommendation is that all infants with two or three copies of SMN2 should receive immediate treatment