Genomics Reporting Implementation Guide, published by HL7 International / Clinical Genomics. This guide is not an authorized publication; it is the continuous build for version 3.0.1-SNAPSHOT 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
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