FHIR IG analytics| Package | synapxe.sgcdi |
| Resource Type | Bundle |
| Id | BundleGenomicsReportDocumentResponse.Example.json |
| FHIR Version | R5 |
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No resources found
No narrative content found in resource
FHIR
FHIRsmith{
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"timestamp": "2026-07-29T14:30:30+08:00",
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"url": "[baseurl]/DiagnosticReport/$retrieve?patient.identifier=https://fhir.synapxe.sg/NamingSystem/nric|S9876543D&category=GE"
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"text": {
"status": "generated",
"div": "<div xmlns=\"http://www.w3.org/1999/xhtml\"><h1>Genomic Analysis Report</h1><h2>Patient: Jane Doe (S9876543D)</h2><h2>Report Date: 2026-07-29</h2><h2>Status: Final</h2><h2>Findings</h2><p><strong>BRCA1 Mutation Detected</strong></p><p>A pathogenic BRCA1 mutation (c.68_69delAG, p.E23Vfs*17) has been identified in the patient's germline DNA in heterozygous state.</p><h3>Genetic Variant Details:</h3><ul><li>Gene: BRCA1 (HGNC:1100)</li><li>Mutation: c.68_69delAG</li><li>Protein Impact: p.E23Vfs*17</li><li>Allelic State: Heterozygous</li><li>Clinical Significance: Pathogenic</li></ul><h3>Molecular Biomarker:</h3><ul><li>BRCA1 mRNA Expression: 2.5-fold change relative to control</li></ul><h2>Clinical Interpretation</h2><p>The detected BRCA1 mutation is associated with significantly increased lifetime risk of breast and ovarian cancers. Genetic counseling and preventive measures are strongly recommended.</p><h2>Recommendations</h2><ul><li>Genetic counseling for the patient and at-risk family members</li><li>Consideration of prophylactic hormone therapy or preventive mastectomy</li><li>Enhanced surveillance protocols</li></ul><h2>Interpretation</h2><p>Dr. John Smith (M45678)<br/>Singapore Genomics Laboratory (HCI-98765)</p></div>"
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"description": "Consider prophylactic hormone therapy or preventive mastectomy. Genetic counseling recommended for family members."
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