samchorlton

Except when it makes it into guidelines written by groups of experts aggregating evidence. I can't copy due to copyright but hope you can find the content past paywall or peruse the citations: https://www.uptodate.com/contents/next-generation-dna-sequen...

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.

I don't know about this specific example, but DNA sequencing is already routinely used for personalized oncology therapeutics outside of clinical trials, so not really research project.

Source: Am MD and practice laboratory medicine.

Thanks for your concern. All technologies come with benefits and risks. Of course, DNA sequencing can be used for harmful purposes, eg. tracking individuals. We should be very cautious of these risks as the technology develops, and take well thought out steps to mitigate them. A similar analogy can be made to the internet and tracking people. Overall, however, the benefits of DNA sequencing to society already far outweigh these risks.

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.

Agreed - Definitely a different class of problem than "software". There are large barriers, eg. lab contamination, biocontainment, low input protocols, etc; however, technological innovation will help with these.

That being said, we see a future where someone without advanced molecular training can put a sample (whether that's a nasal swab, concerning white powder received in the mail or lab-grown meat) in a black box and get out a meaningful report.

Exactly. Better analytics can enable this technology to produce better results than competing technologies in less time. Once automated/easy/rapid sample prep comes, there will be mass adoption in the space.

Disclaimer: Co-Founder of BugSeq[0] 0: https://bugseq.com

So happy to see this here. While sequencing is quite old, mass adoption still has not come. The benefits are clear - faster infectious disease diagnosis, personalized treatment, tracking the spread of infection, identifying food contamination - the use-cases are endless. However before nanopore sequencing came, it was always out of reach of the masses.

We've actually started BugSeq[0] to help labs get into nanopore sequencing - improving these open source tools and also writing our own. Orgs like FDA, USDA, big food co's, CDC, etc are now all adopting nanopore sequencing. Happy to see the industry taking off, this will be a step function improvement for public health in general.

(disclaimer: founder of BugSeq) 0: https://bugseq.com