Universal tumour and germline sequencing at diagnosis feeding a shared learning system
Sequence every cancer at diagnosis, along with the patient's inherited genes, and pool the results with treatments and outcomes so every patient teaches the system how to treat the next.
Comprehensive genomic profiling reaches a minority of patients even in rich countries, and results rarely rejoin outcome data. Genomics England, AACR Project GENIE and national programmes in the Netherlands and Denmark show what pooled genomics plus outcomes can do. The proposal is universal whole-genome or comprehensive panel sequencing plus germline testing at diagnosis as a funded standard, with mandatory return of de-identified genomic, treatment and outcome data to a federated national learning system that publishes evidence for rare variants, drug response and hereditary risk.
- 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.
- Inherited risk is mostly unidentified · Most people who carry a high-risk cancer gene do not know it until they or a relative gets cancer.
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not linked directly; found by shared links- IdeaStore adult-onset cancer gene results from newborn genomes and disclose at 18
Shares Inherited risk is mostly unidentified, Whole-exome & whole-genome sequencing, Germline (hereditary) testing.
- IdeaLet clinics contact relatives directly when a cancer gene is found
Shares Germline vs somatic mutations, Inherited risk is mostly unidentified, Germline (hereditary) testing.
- InstitutionIntermountain Health Cancer Center
Shares Weak real-world evidence and registries, Real-world evidence, Data silos, Comprehensive genomic profiling.
- IdeaTreat resistance like an infectious disease and run national surveillance
Shares Weak real-world evidence and registries, Real-world evidence, Data silos, Comprehensive genomic profiling.
- IdeaNo mCODE, no payment: tie oncology reimbursement to a minimal structured record
Shares Weak real-world evidence and registries, Real-world evidence, Data silos.
- IdeaOpen, benchmarked algorithms for lines of therapy and progression from routine data
Shares Weak real-world evidence and registries, Real-world evidence, Data silos.
- IdeaAutomatic weekly linkage of cancer registries to deaths, prescriptions and imaging
Shares Weak real-world evidence and registries, Real-world evidence, Data silos.
- CollectionClinVar
Shares Germline vs somatic mutations, Inherited risk is mostly unidentified, Germline (hereditary) testing.