ideasIdea
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.
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.
What would test it
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
Who has to act
payer
Cost to try
Medium ($1M to $50M)
Years to first evidence
3
Bottlenecks it attacks
- 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.