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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.
Shares Caris Life Sciences, OncoKB, Foundation Medicine (Roche), Tempus AI.
Shares Foundation Medicine (Roche), Tempus AI, Guardant Health, Next-generation sequencing (NGS).
Shares AACR Project GENIE, Foundation Medicine (Roche), Tempus AI, Weak real-world evidence and registries.
Shares Foundation Medicine (Roche), Tempus AI, Weak real-world evidence and registries, Data silos.
Shares cBioPortal for Cancer Genomics, AACR Project GENIE, Weak real-world evidence and registries, Data silos.
Shares OncoKB, cBioPortal for Cancer Genomics, AACR Project GENIE, Data silos.
Shares cBioPortal for Cancer Genomics, AACR Project GENIE, Data silos, Rare and paediatric cancers without markets.
Shares Foundation Medicine (Roche), Guardant Health, Data silos.