Why the $1000 genome is not important

[Just to be clear, the original post is from last year. I just did not want to forget it]

genomicsby ChrisDag

Congratulations on reaching the $1000 genome
[Via PolITiGenomics]

Recently there has been a spate of talks, press releases, and articles about the absurdity of the $1000 human genome, e. g., Cancer, Data and the Fallacy of the $1000 Genome. No doubt this has contributed to the somewhat muted response to Life Technologies announcement that they will attempt to win the Archon Genomics X Prize using the Ion Torrent Proton platform. While I agree that talk of the $1000 human genome is irrelevant, it’s not for the same reason as everyone else. Most people cite sequence analysis costs, not typically included in the $1000 per genome estimate, as the reason that talk of a consumables-only $1000 genome is not relevant. That is a red herring (but more on that later). The real reason that the $1000 human genome is no longer interesting is because, for all intents and purposes, we have already achieved the $1000 human genome. “What?!?” you say, “a human genome costs $5000 to sequence!” Sure, you’re right, but that is just details. Compared to $1 billion (the approximate cost of the first human genome), the difference between $1000 and $5000 is rounding error. The reality is that the current cost of sequencing a human genome is well within the cost of diagnostic tests in common use in health care. From another perspective, the cost of sequencing a human genome has fallen into the range of an expensive vacation, i. e., there are people who at present are getting their genomes sequencing for recreational purposes. So, congratulations, we did it!


The point made is that the costs of consumables may well be under $1000 shortly. But the real costs are what happens afterward – the analysis of the genomic data to personalize it for each patient.

And, as the article notes, these costs are different if we look at research costs – which usually have to be done as a one-off – or we look at clinical lab costs – which can find many cost-saving approaches.

Research costs to understand say cancer genomics can be closer to $100,000. But when moved to the clinic, these costs can drop to perhaps $1000.

So, right now the important work on costs is not at the data collection side but at the analysis side.

2 thoughts on “Why the $1000 genome is not important

  1. For me, the importance of a $1000 genome is that when you have a nail to pound, everything starts looking like a hammer. A $1000 genome is a cheap tool. It will shortly be
    used for things we can’t really imagine right now.

    1. Exactly. What things can be done when the cost gets close to zero? Sequencing humans will only be a small part. One of the interesting ideas I heard is that every sewer pipe exiting a house will have a meter to get the sequences of bacteria and viruses present in the waste. Since we can detect infectious disease before they show symptoms, we could get medical help before we get sick.

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