Every tumour genomic report machine-readable and deposited nationally
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.
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.
- Data silos · Records, scans, genomes and outcomes sit in separate systems that cannot talk. Every patient's experience is lost to the next.
- Weak real-world evidence and registries · We do not reliably know what happens to patients after approval, so we cannot tell which drugs deliver in practice.
- Rare and paediatric cancers without markets · Taken together rare cancers are a fifth of all cancers, but each one alone is too small for a company to invest in.
Pages like this
not linked directly; found by shared links- IdeaEvery tumour sequencing report lists open, nearby, matched trials pulled live
Shares Caris Life Sciences, CIViC, OncoKB, Next-generation sequencing (NGS).
- IdeaLabel every targetable mutation as truncal or branch on the report
Shares Next-generation sequencing (NGS), Foundation Medicine (Roche), Guardant Health, Tempus AI.
- TechnologyCancer variant knowledgebases and molecular tumour boards
Shares CIViC, OncoKB, cBioPortal for Cancer Genomics, Comprehensive genomic profiling.
- IdeaEmulate combination trials from real-world data to triage which ones to run
Shares AACR Project GENIE, Foundation Medicine (Roche), Tempus AI, Weak real-world evidence and registries.
- IdeaA global federated real-world evidence network at regulatory grade
Shares Foundation Medicine (Roche), Tempus AI, Weak real-world evidence and registries, Data silos.
- IdeaAn organotropism atlas that predicts where a cancer will spread
Shares cBioPortal for Cancer Genomics, AACR Project GENIE, Weak real-world evidence and registries, Data silos.
- IdeaLet patients themselves donate their records and samples for ultra-rare cancers
Shares cBioPortal for Cancer Genomics, AACR Project GENIE, Data silos, Rare and paediatric cancers without markets.
- IdeaPool every immunotherapy trial's biomarker data into one commons
Shares OncoKB, cBioPortal for Cancer Genomics, AACR Project GENIE, Data silos.