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by gumberculese 3688 days ago
I'm a bit surprised by your reaction. You do know we use genomics in clinical labs all the time, right? We can find drug-targetable mutations in tumors, we can direct patient care in rare (and some common-ish) diseases from germline mutations. Now, with liquid biopsy we can actually track tumor progress through treatment and identify resistance mutations that pop up. Before long, we'll be able to do cancer screenings from blood! None of that would be possible without cheap, scalable NGS sequencing tech.

Tumor sequencing is a HUGE boon to cancer treatment and research. Patients lives have been drastically improved by targeted treatment.

1 comments

Targeted therapies were not developed as a result of genomics. Erlotinib was approved in 2005. We've had Sanger sequencing assays for EGFR, BRAF etc for years, and they're still standard of care. We can identify resistance mutations, but we often don't know what to do with this information. Your patient becomes resistant, you identify the causative variants, you watch your patient progress and die.

Sure, genomics gives us a comprehensive way to sequence, but my point is that it did not yield the sudden, vast sweep of insights that we expected it would.

IMO, it's a bit like geneticists walked into the human genome expecting a simple SQL database, and discovered the thing was littered with pl/sql functions, and that some of the functions actually double as data, when shifted over a byte or two. It's no surprise then that it's taking longer to understand the genome, and nor surprising why differential genomics is so useful.

Whether this was the best use of scientific resources, I donno.