Generated Narrative: DiagnosticReport report Profile: Genomic Report Genetic analysis report (Genetics) Subject Anonymous Patient (no stated gender), DoB Unknown When For 2016 Reported 2016-09-06 00:00:00-0500 Performer Organization Some lab Report Details Code Value Flags Genetic variant assessment Present Final Diagnostic Implication Final Genetic variant assessment Present Final Diagnostic Implication Final Haplotype name *2 Final Genotype display name CYP2C9 *2/*5 Final Therapeutic Implication Final Therapeutic Implication Final Coded Conclusions: Positive Positive
This would contain patient identifiers, demographics, etc.
Generated Narrative: Specimen ExampleSpecimen subject: Anonymous Patient (no stated gender), DoB Unknown
Generated Narrative: Organization ExampleLab name: Some lab
Generated Narrative: ServiceRequest ExampleServiceRequest status: Active intent: Original Order code: Genetic analysis report subject: Anonymous Patient (no stated gender), DoB Unknown reasonCode: Worried about family planning
Generated Narrative: Observation discrete-variant Profile: Variant status: Final category: Laboratory, Genetics code: Genetic variant assessment subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab value: Present specimen: Specimen component code: Discrete genetic variant value: NM_014049.4(ACAD9):c.1249C>T (p.Arg417Cys) component code: Gene studied [ID] value: ACAD9 component code: Transcript reference sequence [ID] value: NM_014049.4 component code: Genomic reference sequence [ID] value: NG_017064.1 component code: Genomic DNA change (gHGVS) value: T}">NC_000003.11:g.128625063C>T component code: Discrete genetic variant value: rs368949613 component code: DNA change (c.HGVS) value: T}">NM_014049.4:c.1249C>T component code: Amino acid change (pHGVS) value: NP_054768.2:p.Arg417Cys component code: DNA change type value: Substitution component code: Genomic ref allele [ID] value: C component code: Genomic allele start-end value: 31731-31731 component code: Genomic alt allele [ID] value: T component code: Cytogenetic (chromosome) location value: 3q21 component code: Genomic source class [Type] value: Germline component code: Allelic state value: Heterozygous component code: Sample variant allelic frequency [NFr] value: 47 % (Details: UCUM code% = '%') component code: Allelic read depth value: 208 1 (Details: UCUM code1 = '1') component code: Genomic structural variant copy number value: 1 1 (Details: UCUM code1 = '1') component code: Structural variant reported arrCGH [Ratio] value: 0.48 component code: Structural variant [Length] value: 1396929 1 (Details: UCUM code1 = '1') component code: Structural variant outer start and end value: 13200589-15592000 component code: Structural variant inner start and end value: 14184616-15581544
Generated Narrative: Observation dis-path Profile: Diagnostic Implication status: Final category: Laboratory, Genetics code: Diagnostic Implication subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab derivedFrom: Observation Genetic variant assessment component code: Genetic variation clinical significance [Imp] value: Pathogenic component code: Associated phenotype value: acyl-CoA dehydrogenase 9 deficiency
Generated Narrative: Observation complex-variant Profile: Variant status: Final category: Laboratory, Genetics code: Genetic variant assessment subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab value: Present specimen: Specimen hasMember: Observation Genetic variant assessment Observation Genetic variant assessment
Generated Narrative: Observation complex-dis-path Profile: Diagnostic Implication status: Final category: Laboratory, Genetics code: Diagnostic Implication subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab derivedFrom: Observation Genetic variant assessment component code: Genetic variation clinical significance [Imp] value: Pathogenic component code: Associated phenotype value: Debrisoquine adverse reaction (disorder)
Debrisoquine adverse reaction (disorder)
Generated Narrative: Observation complex-component-D Profile: Variant status: Final category: Laboratory, Genetics code: Genetic variant assessment subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab value: Present specimen: Specimen component code: Discrete genetic variant value: NM_000106.5(CYP2D6):c.886C>T (p.Arg296Cys) component code: Transcript reference sequence [ID] value: NM_000106.5 component code: DNA change (c.HGVS) value: T}">NM_000106.5:c.886C>T component code: Amino acid change (pHGVS) value: NP_000097.3:p.Arg296Cys component code: DNA change type value: Substitution
Generated Narrative: Observation complex-component-E Profile: Variant status: Final category: Laboratory, Genetics code: Genetic variant assessment subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab value: Present specimen: Specimen component code: Discrete genetic variant value: NM_000106.5(CYP2D6):c.1457G>C (p.Ser486Thr) component code: Transcript reference sequence [ID] value: NM_000106.5 component code: DNA change (c.HGVS) value: C}">NM_000106.5:c.1457G>C
Generated Narrative: Observation haplotype Profile: Haplotype status: Final category: Laboratory, Genetics code: Haplotype name subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab value: *2 specimen: Specimen derivedFrom: Observation Genetic variant assessment
Generated Narrative: Observation genotype Profile: Genotype status: Final category: Laboratory, Genetics code: Genotype display name subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab value: CYP2C9 *2/*5 specimen: Specimen derivedFrom: Observation Haplotype name component code: Gene studied [ID] value: CYP2C9 component code: Gene studied [ID] value: VKORC1
Generated Narrative: Observation metab Profile: Therapeutic Implication status: Final category: Laboratory, Genetics code: Therapeutic Implication subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab derivedFrom: Observation Genotype display name component code: Medication assessed [ID] value: Warfarin component code: Therapeutic Implication value: Rapid metabolizer
Generated Narrative: Observation efficacy Profile: Therapeutic Implication status: Final category: Laboratory, Genetics code: Therapeutic Implication subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab derivedFrom: Observation Genotype display name component code: Therapeutic Implication value: Resistant component code: Medication assessed [ID] value: Warfarin
Generated Narrative: Observation highrisk Profile: Therapeutic Implication status: Final category: Laboratory, Genetics code: Therapeutic Implication subject: Anonymous Patient (no stated gender), DoB Unknown effective: 2016 issued: 2016-09-06 00:00:00-0500 performer: Organization Some lab derivedFrom: Observation Genotype display name component code: Therapeutic Implication value: Low risk component code: Medication assessed [ID] value: Warfarin
Generated Narrative: Task usage Profile: Medication Recommendation status: Requested intent: proposal code: May need higher dosage than usual. focus: MedicationStatement: status = unknown; medication[x] = Warfarin for: Anonymous Patient (no stated gender), DoB Unknown requester: Organization Some lab reasonReference: Observation Therapeutic Implication