[samchorlton]

We work within the infectious disease space, so I'll give an example from our work that is still personalized medicine: Faster detection of antimicrobial resistance. Every infection will be resistant to different antibacterials/antivirals/antifungals/antiparasitics. What if we could get the patient on the right antimicrobial for their specific infection faster? There's strong evidence that timely administration of correct antimicrobials in septic shock results in improved mortality.

Nanopore sequencing very much has the potential to deliver this personalized treatment, without looking at any human genes or panels. If we could rapidly sequence bacteria in the bloodstream and predict their antimicrobial susceptibilities, we can make a difference.

[dekhn]

What you're describing is a very reasonable research topic with some supporting evidence.

What I'm saying is that nobody has delivered on any of the huge claims about the genome which genomicists made for the last 20 years, specifically in terms of actionable human health.

it's time to start calling the bluff.

[samchorlton]

I'm not exactly sure how you can say that.

The following have been revolutionized by the human genome project and subsequent technological innovation in sequencing:

-Non-invasive prenatal diagnostics

-Screening for cancer with cell-free DNA

-Rapid and accurate diagnostics for children with suspected genetic disorders

-Targeted cancer therapeutics

Many of these are already in routine clinical use in high income countries and result in significant improvement in human health.

[searine]

>What I'm saying is that nobody has delivered on any of the huge claims about the genome which genomicists made for the last 20 years, specifically in terms of actionable human health.

I mean. Sure, sequencing the human genome didn't solve our problem overnight, and you can't sequence a genome at a vending machine for a nickel to tell your future, but I think there has been an avalanche of medical data derived from the genome and that is only continue to get bigger.

Now that we are really starting to figure out the polygenic risks and the single deleterious variants and their links with phenotype, people will have a much better picture of what their future might hold (and how to prevent it).

I don't think it was ever a bluff. The problem just turned out harder than we thought it was going to be.

[et2o]

This was a talking point like 10 years ago which isn’t remotely true today

[salt-licker]

Sounds like the mission of Day Zero Diagnostics (dayzerodiagnostics.com). Are you working with them?