Genomics Reporting Implementation Guide
3.0.0 - STU3 International flag

This page is part of the Genetic Reporting Implementation Guide (v3.0.0: STU3) based on FHIR (HL7® FHIR® Standard) R4. This is the current published version. For a full list of available versions, 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