SummarySection resides at the highest level of the Genetic Testing Report and consists of several sub-sections describing the overall interpretation of the various genetic tests described in the GTR as well indications, summary of tests performed, recommendations and specimen information. Note that SummarySection must appear as the first section of a GTR. The overall structure of the summary section is depicted in chart 2 of the slide deck enclosed in the GTR package.
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<section> <templateIdroot="2.16.840.1.113883.10.20.20.1.1"/><title>Summary</title><component> <section> <templateIdroot="2.16.840.1.113883.10.20.20.1.11"/><title>Indications</title><text> <list> <item> <contentID="a2">Indication: Profound sensorineural hearing loss</content></item></list></text><entry> <observationclassCode="COND"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.3.3.1"/><idroot="2.16.840.1.113883.18.12.7.30.9.2.1"/><codecode="51967-8"codeSystem="2.16.840.1.113883.6.1"codeSystemName="LOINC"displayName="Genetic disease assessed"/><valuexsi:type="CD"code="85571008"codeSystem="2.16.840.1.113883.6.96"codeSystemName="SNOMED-CT"displayName="Sensory Hearing Loss"> <originalText> <referencevalue="#a2"/></originalText></value><referencetypeCode="XCRPT"> <externalObservation> <idroot="2.16.840.1.113883.19.1.2765"/></externalObservation></reference></observation></entry></section></component><component> <section> <templateIdroot="2.16.840.1.113883.10.20.20.1.1.6"/><title>Summary of Tests Performed</title><text> <list> <item> <contentID="a1"> GJB2 Full Gene Test </content></item><item> <contentID="a5"> GJB6-D13S1830 deletion </content></item><item> <contentID="a3"> Mitochondrial Hearing Loss Mutation Test </content></item></list></text></section></component><component> <section> <templateIdroot="2.16.840.1.113883.10.20.20.1.1.1"/><title>Overall Interpretation</title><text> <list> <item> <contentstyleCode="Bold">Inconclusive.</content></item><item> <content> DNA sequencing detected two changes in the GJB2 gene, 79G>A (V27I) and 109G>A (V37I). The V27I change has been reported as a benign variant (references) and is not believed to cause hearing loss. The V37I mutation has been previously reported in patients with hearing loss. This mutation, in homozygosity or combined with another GJB2 disease causing mutation, typically results in a mild to moderate hearing loss (Cryns et al. 2005). Mutations in both copies of the GJB2 gene are necessary to assume that GJB2 is responsible for the hearing loss. Although two mutations were identified in this patient, we would assume that the combination of a benign variant and a mild pathogenic mutation would result in a mild to moderate hearing loss rather than a moderately-severe one, as in this patient. It is most likely that the hearing loss in this patient is the result of the V37I mutation and an unknown second pathogenic mutation. It should be noted that a second mutation is not identified in a large percentage (10-50%) of patients with nonsyndromic hearing loss and GJB2 mutations (del Castillo et al. 2003). </content></item><item> <content> GJB6-D13S1830 Deletion: A PCR-based analysis of the GJB6-D13S1830 region of chromosome 13 was performed and did not detect the deletion. This test does not assess the DNA sequence of the GJB6 gene or detect other mutations that could affect the expression of the gene. </content></item><item> <content> Mitochondrial Hearing Loss mutations: Targeted bidirectional sequencing of mitochondrial DNA 1555 and 7445 regions did not detect the presence of these mutations. </content></item></list></text><entry> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.2.4"/><idroot="2.16.840.1.113883.18.12.7.30.9.1.2"/><codecode="55232-3"codeSystemName="LOINC"displayName="Genetic analysis summary panel"/><statusCodecode="completed"/><entryRelationshiptypeCode="SUBJ"> <organizerclassCode="BATTERY"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.5.1"/><statusCodecode="completed"/><component> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.6"/><idroot="2.16.840.1.113883.18.12.7.30.9.8.1"/><code/></observation></component><component> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.6"/><idroot="2.16.840.1.113883.18.12.7.30.9.8.2"/><code/></observation></component><component> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.6"/><idroot="2.16.840.1.113883.18.12.7.30.9.8.3"/><code/></observation></component><component> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.6"/><idroot="2.16.840.1.113883.18.12.7.30.9.8.4"/><code/></observation></component></organizer></entryRelationship><entryRelationshiptypeCode="RSON"> <observationclassCode="COND"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.6"/><idroot="2.16.840.1.113883.18.12.7.30.9.2.1"/><code/></observation></entryRelationship><entryRelationshiptypeCode="SPRT"> <observationclassCode="OBS"moodCode="DEF"> <templateIdroot="2.16.840.1.113883.10.20.20.2.5.5"/><codecode="51968-6"codeSystemName="LOINC"displayName="Genetic disease analysis overall interpretation"/><statusCodecode="completed"/><effectiveTimevalue="200512011500"/><valuexsi:type="CD"code="LA9663-1"displayName="Inconclusive"/><performertypeCode="PRF"> <assignedEntity> <idroot="2.16.840.1.113883.19.3.2409.345"/><representedOrganization> <name>The New Genetic Testing Analysis Service</name></representedOrganization></assignedEntity></performer></observation></entryRelationship></observation></entry></section></component><component> <section> <templateIdroot="2.16.840.1.113883.10.20.20.1.1.5"/><title>Recommendations</title><text> <list> <item> <content> Although some cases may represent a coincidental carrier state, all of the studies have concluded that there are likely to be other genetic mutations that have not yet been identified. Genetic counseling is recommended for this patient and his/her family members. </content></item></list></text></section></component><component> <section> <templateIdroot="2.16.840.1.113883.10.20.20.1.7"/><title>Specimen and Genomic Source Class</title><text> <list> <item>Peripheral Blood</item><item>Genomic source class: Germline</item></list></text><entry> <observationclassCode="OBS"moodCode="EVN"> <templateIdroot="2.16.840.1.113883.10.20.20.3.2"/><idroot="2.16.840.1.113883.18.12.7.30.9.3.7"/><codecode="48002-0"codeSystemName="LOINC"displayName="Genomic source class"/><valuexsi:type="CD"code="LA6683-2"codeSystemName="LOINC"displayName="Germline"/><specimen> <templateIdroot="2.16.840.1.113883.10.20.20.3.1"/><specimenRole> <specimenPlayingEntity> <codecode="180796014"codeSystem="2.16.840.1.113883.6.96"codeSystemName="SNOMED-CT"displayName="Peripheral blood specimen"/></specimenPlayingEntity></specimenRole></specimen></observation></entry></section></component></section>
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Summtion
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Sub-sections of the SummarySection SHOULD appear in the order presented in this implementation guide.
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