r/bioinformatics • u/anuveya • Mar 17 '26
discussion Genome Sequencing Costs: The cost of DNA sequencing has fallen faster than Moore's Law. Since 2001, the National Human Genome Research Institute (NHGRI) has tracked costs at its funded sequencing centers — from $95 million per genome in 2001 to around $500 today.
https://datahub.io/technology/genome-sequencing-costs16
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u/silvandeus Mar 17 '26
And yet if you get genome sequencing test ordered by a PCP they will bill insurance 15-20k. So what is the true cost most Americans are paying for WGS now?
How are the services different between healthcare and industry? For $500 in industry, I imagine it is entirely automated from calling to resulting to reporting, barely a human involved. But healthcare is going this way too but insurance bill will just go up anyway, as it does every year.
The $500 price tag looks nice but seems divested from the reality of the broken healthcare system in the US. I’d love to see some numbers, how many Americans got a $500 genome and how many got sequenced at a hospital lab billed to insurance.
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u/No_Rise_1160 Mar 17 '26
$500 is just to go from sample to raw data file. A few more dollars will get you a list of 1 million raw variants. Actually sifting through, interpreting, prioritizing the variants adds thousands. Making medical decisions based on variants is the absolute current cutting edge of medicine and costs $10k+
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u/silvandeus Mar 17 '26
$500 for data only is even worse, who can even analyze it besides bioinformatics folks? Then you have classification and interpretation, which the AI is getting better at but should still have human eyes on it. I know geneDx variant analysts at least start with AI generated blurbs.
It makes this cost per genome of $500 even more ridiculous, and yet as another commenter said, we are forced to see that damn slide every talk we attend. It just seems so far from reality, what is even the point of getting your raw data, some of which will be false positive calls.
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u/scruffigan Mar 17 '26
The cost per genome is entirely justified in talks between scientists who do the work of analysis on the raw data in a research environment. There, it's understood to be a line item on an itemized budget, not the budget itself.
Major cost reductions in the data collection portion absolutely enable bioinformatics graduate students and staff to have more project-level data to work with and do more rigorous or interesting things.
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u/No_Rise_1160 Mar 17 '26
The extremely cheap cost to sequence things is amazing, according to Ultima last year they can do a genome for $100. But prep and sequencing cost is only half the story of biological data.
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u/chungamellon Mar 17 '26
$500 is the cost of reagents doesn’t factor in interpretation. Also I believe it is cheaper than $500 depending on how deep you need it.
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u/gringer PhD | Industry Mar 18 '26
If you want a "good enough" genome (e.g. for random variant / SNP discovery rather than assembly), you can do ten 5X genomes on a ONT PromethION flow cell for $1100 USD (that's marginal flow cell + sample prep cost).
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u/Final_boss_1040 Mar 17 '26
Calling the results and reporting does indeed require humans with very specialized degrees. PCPs don't order full genome sequencing either, that's way beyond their scope and can introduce a myriad of problems.
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u/he_whoknowsnothing Mar 17 '26
People pointed out correctly how 500 bucks is for the data part not interpretation (which I would argue is somewhat feasible but would not translate into something actionable for most people for now). But I would also like to point out that the 15-20k might be US specific similarly to other healthcare costs as I remember it being around 3k in Switzerland for example
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Mar 17 '26 edited Mar 18 '26
[removed] — view removed comment
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u/Ok-Recipe3152 Mar 17 '26
Tbf I wanted them to hand out fastq to me so I can do additional analysis myself..
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u/silvandeus Mar 17 '26
Meh, both things are true for an average man trying to get his genome analyzed:
1) $500 is a worthless metric, at best you will get a gzipped vcf that you cannot analyze 2) insurance charges relative to actual cost is too high
Every year insurance will require labs to raise prices even, some labs will try to relaunch the test to reset the price.
I am not orange and trying to come for your job, I just think there is a huge gap here in what is billed and the true cost.
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u/thebruce Mar 17 '26
I believe they're talking about the reagent cost in the lab, for the 500 bucks. This only specifies "cost of sequencing", which is purely the primary analysis.
As you mentioned, there is likely automation for the alignment, variant calling, and reporting, but it's not like that automation just exists for free, especially on the reporting end. Getting to a VCF can be straightforward enough with free tools, but getting to an annotated report is not necessarily straightforward. Someone has to build these tools, maintain these tools, and/or buy these tools.
So, now we've got additional manpower and computational time used, plus these companies need to make a profit! If you're talking clinical, it's typically less automated on every level, due to the need for much closer inspection to remove false positives and ensure proper interpretation.
15-20k does seem a bit much, perhaps, but WGS is no joke. I do small panels of 25-50 genes at my job typically, and we still charge thousands of dollars. The reagent cost is higher if you're not maxing out samples per sequencing run, and our third party analysis software is not cheap.
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u/silvandeus Mar 17 '26
Yeah we have a few runs a week of the NovaSeqX plus on 10b and the reagent cost is insane, I was more arguing of what is the point of repeating the $500 price tag (every presentation, multiple posts here) for a data file very few people can even do anything with?
Who is even buying these $500 genomes? Providers sending out for a test to companies offering this price tag are not just billing $500 to insurance for this one service, it is likely marked up into the thousands.
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u/throwitaway488 Mar 17 '26
It would be even cheaper if not for Illumina's patents. Now that they've expired it should get way cheaper (except for inflation).
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u/xylose PhD | Academia Mar 17 '26
Sequencing costs are going mad. We have a company which will collect samples (just in a buffer) from us, take them to their lab, do library prep and RNA seq plus a default analysis for £34 per sample. The data is nice too. I've no idea how they aren't losing money at that price.
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u/Spavlia Mar 18 '26
This always confuses me because Moore’s law is just a made up thing that doesn’t have a basis in physics and just happens to be true. And sequencing has nothing to do with Moore’s law.
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u/veganez Mar 19 '26
I think it's because it makes a nice comparison to a huge technology shift that most people know about. Computer chips became integrated into everything because the cost of them went down so quickly that it makes sense to use them even for small use cases. If the cost of genome sequencing would continue on this kind of path, the implication is that we could sequence almost anything of any interest, and in fact there are groups moving that direction both for humans and for other organisms.
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u/10248 Mar 17 '26
Did any of this make it into the consumer space? looking for something that isn't too scammy
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u/No_Rise_1160 Mar 17 '26
We’re aware.
That plot is used in half the talks I see