3 ms·
The biggest bottleneck to realizing this vision, unbelievably, is lack of funding to do large-scale, high quality whole genome cancer sequencing + high-quality
by dkural 10y ago
The biggest bottleneck to realizing this vision, unbelievably, is lack of funding to do large-scale, high quality whole genome cancer sequencing + high-quality treatment, family, phenotypic etc. data to go along with it.
As nice as Foundation's data is, there are few/no phenotypes to go along with it, representing a bottleneck to extracting any useful information out of it. Keep in mind that genomics is only one half of genetics (the other half being the phenotype) and is meaningless without knowing more about the patient.
On the phenotype side, EMR/EHRs are practically useless as scientific tools (doesn't prevent academics from publishing how they extracted meaningful data from it.. which has little correlation with if something works or is reproducible; unfortunately) and I don't foresee this being fixed in the current healthcare ecosystem in the US. The UK & other European governments with good data + national healthcare systems represent a better chance.
If you don't believe me, I challenge you to point me to a single study containing a comparison of 1000 metastatic sites vs primary tumors in one cancer type, with WGS. Given that metastasis causes > 90% of deaths (ref: Weinberg cancer textbook), you'd think we'd have done this study by now.
A dx company has no hope of reimbursement for doing cancer whole genomes, and does not receive patient data in sufficient detail (how did they fare after treatment? what drugs were they given?) to undertake a study.