Comment by throwaway197812 | Hacker News Reader

Comment by throwaway197812 | Hacker News Reader

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throwaway197812

There's no reason why we don't have sequencing for everyone at this point.

There are at least two reasons: it's still expensive, and we still don't really know what to do with it.

The "$1000 genome" is a bit of a myth, or rather PR hype from Illumina. Sure, they proved it could be done if you juke the numbers the right way. But I believe a clinical-grade whole-genome sequence still costs several times that much (see https://bmchealthservres.biomedcentral.com/articles/10.1186/...). Even at $1000/genome, sequencing the entire US population would still be $330 billion, for unclear benefit.

I'd love to be corrected, but the science just isn't there to show us what to do with WGS data except in limited applications like cancer or "rare diseases". It's a bit of a chicken-and-egg problem in that sense, and it's being worked on. There are pharma companies and public consortia sequencing hundreds of thousands of genomes, and mining them alongside medical records and other phenotypic data. So the value may come eventually, but it will probably be less about preventing illness so much as curing disease in a much more targeted way. And even then, you won't need to have your whole genome sequenced just to know if you should take drug A or drug B -- a cheap targeted test will suffice.

Not quite, that paper is pretty misleading if you're using it as a rock solid rejection of the $1000 genome.

First, context: These are small scale clinical/experimental settings which clearly do not take advantage of economies of scale. Labor costs are thus greatly magnified. This effect is also obscured by their costing breakdown, which often does not separate reagent cost from labor.

Unless I'm misreading this, the pricing that they define often includes 2 sets of sequencing runs, one for the baseline and one for the tumor samples. That puts the existing price at about 4000 USD for 2 samples or a 2000 USD/sample cost.

The expansive definition of "sequencing cost" to envelope downstream analysis and storage here is also a mistake IMO. I would rather narrow down on specifically the cost to get the raw sequence data out, excluding clinical and bioinformatics analysis. This would include (reasonable) sample extraction, library preparation, and the actual sequencing process itself.

There are definitely significant cost barriers to sequencing, but we shouldn't discount savings that come with scale.

Of course, all this math goes out the window if we were to look at exome sequencing instead which while less complete, still gives a large amount of information at a fraction of the cost.

You make good points, but I think my overall point stands: Even a $1000 genome does not provide $1000 worth of value to a healthy individual today. So there is no point in trying to make WGS broadly available, nor is there any justification for insurance companies to cover it. It would be nothing more than a form of luxury "scientific entertainment" a la 23andMe.

Also, I would challenge your suggestion that "The expansive definition of 'sequencing cost' to envelope downstream analysis and storage here is also a mistake." I would argue that it's the opposite: delivering valid and useful sequencing results to a broad population would require even more resources directed toward analyzing the results and also interpreting them for the patients.

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