{"entity":{"id":"idea-data-structured-genomic-reports","kind":"idea","name":"Every tumour genomic report machine-readable and deposited nationally","aka":[],"tldr":"Genetic test results for tumours are mostly PDFs. Require labs to also send a computer-readable version to a national store, so variants can be linked to what treatments worked.","summary":"NGS reports from commercial and hospital labs are delivered as PDFs; the structured variant calls rarely enter the record. The HL7 Genomics Reporting implementation guide and mCODE genomics profiles define the format. The proposal requires, as a condition of payer coverage for tumour sequencing, that laboratories deposit structured variant, TMB, MSI and fusion data to a national variant-outcome store linked to registry outcomes, building on AACR Project GENIE and Genomics England.","asOf":"2026-09-08","links":[{"label":"HL7 Genomics Reporting IG","url":"https://hl7.org/fhir/uv/genomics-reporting/"},{"label":"AACR Project GENIE","url":"https://www.aacr.org/professionals/research/aacr-project-genie/"}],"tags":[],"related":["genie","cbioportal","civic","oncokb"],"cancers":[],"sections":["ai-computation"],"technologies":["ngs","cgp"],"targets":[],"drugs":[],"companies":["foundation-medicine","tempus","caris","guardant-health"],"institutions":[],"pathways":[],"terms":[],"trials":[],"people":[],"bottlenecks":["b-data-silos","b-real-world-evidence","b-rare-cancers"],"keyPapers":[],"journals":[],"dependsOn":[],"notes":[],"hypothesis":"A payer-mandated structured deposit will link genomics to outcomes for more than 80 percent of sequenced patients within three years, allowing variant-level outcome queries (for example rare KRAS alleles) that currently require bespoke consortia.","rationale":"GENIE showed that pooled genomic-clinical data across 19 centres yields answers on rare variants no single centre can; a mandate extends this from volunteer academic centres to all sequenced patients.","test":"Pilot with one national payer and the three largest commercial labs: measure the proportion of covered tests deposited in structured form and time to first published variant-outcome analysis.","maturity":"early-clinical","actor":"payer","cost":"medium","horizonYears":3},"route":"/ideas/idea-data-structured-genomic-reports/","neighbours":{"collection":[{"id":"genie","kind":"collection","name":"AACR Project GENIE","route":"/collections/genie/"},{"id":"cbioportal","kind":"collection","name":"cBioPortal for Cancer Genomics","route":"/collections/cbioportal/"},{"id":"civic","kind":"collection","name":"CIViC","route":"/collections/civic/"},{"id":"oncokb","kind":"collection","name":"OncoKB","route":"/collections/oncokb/"}],"section":[{"id":"ai-computation","kind":"section","name":"AI & Computation","route":"/fronts/ai-computation/"}],"term":[{"id":"ngs","kind":"term","name":"Next-generation sequencing (NGS)","route":"/terms/ngs/"}],"technology":[{"id":"cgp","kind":"technology","name":"Comprehensive genomic profiling","route":"/technologies/cgp/"}],"company":[{"id":"caris","kind":"company","name":"Caris Life Sciences","route":"/companies/caris/"},{"id":"foundation-medicine","kind":"company","name":"Foundation Medicine (Roche)","route":"/companies/foundation-medicine/"},{"id":"guardant-health","kind":"company","name":"Guardant Health","route":"/companies/guardant-health/"},{"id":"tempus","kind":"company","name":"Tempus AI","route":"/companies/tempus/"}],"bottleneck":[{"id":"b-data-silos","kind":"bottleneck","name":"Data silos","route":"/bottlenecks/b-data-silos/"},{"id":"b-rare-cancers","kind":"bottleneck","name":"Rare and paediatric cancers without markets","route":"/bottlenecks/b-rare-cancers/"},{"id":"b-real-world-evidence","kind":"bottleneck","name":"Weak real-world evidence and registries","route":"/bottlenecks/b-real-world-evidence/"}],"idea":[{"id":"idea-data-registry-genomics-linkage-programme","kind":"idea","name":"Link every national cancer registry to tumour genomics","route":"/ideas/idea-data-registry-genomics-linkage-programme/"}]}}