A $1000 Genome

Animation of an MRI brain scan, starting at th...Image via Wikipedia

It’s been the catch-phrase of science geeks hoping to drive DNA sequencing to the next level: The $1,000 genome. There is a National Institutes of Health project to get us there, an X Prize to reward whoever gets there first, and a book (a great read) named after the idea. The $1,000 genome – it promises a day when we all carry around our genetic code on thumb drives and use it to decide what medicines to take, what to eat, and what diseases to watch out for.

Great buzzword, but it may never happen, especially not any time soon and especially not at a cost of $1,000. Research costs for sequencing a human genome may drop that low very soon, but that doesn’t include paying the doctors or the cost of information technology to process the data. Research genomes are not accurate enough for medical use. Getting better accuracy requires sequencing the DNA more times, which drives the cost back up. I’d think if we’re talking about actual medical use, $10,000 is a more accurate number. Certainly, it is not going to drop below the $2,000 level for a magnetic resonance imaging scan. And once the technology is in use, I think it is possible that the costs will go back up.

Even in consumer electronics, costs don’t always go to zero. Buying a decent computer (not the chintzy netbook I use for everything) costs as much now as it did ten years ago – the power behind the device you get has simply increased. But medicine is not like consumer electronics. That’s why we often pay astronomical prices for drugs that have real benefits –$93,000 per patient for Dendreon’s prostate cancer drug Provenge, or $200,000 per patient per year for one of Genzyme’s rare disease drugs. Sequencing isn’t going to mirror the drug business. It might be more like the PET scan and MRI business, with select hospitals buying huge, expensive machines. Or it might be that people don’t get their whole genomes scanned except when they have a hard to diagnose disease – patients with cancer might have a few hundred or a thousand of their tumor genes sequenced in order to pick the right drugs, for instance. All of this comes with the hurdles that neither doctors nor regulators really understand sequencing yet, and that’s bound to come with all sorts of hiccups. On the other hand, the first cases of using sequencing in medicine are arriving now.

That said, one of the arguments that this could be quite big is that you can get to pretty gigantic market sizes whether the cost comes down a lot or not. To quote Jay Flatley, chief executive of DNA sequencing leader Illumina: “If you look at the potential it verges on being insatiable through the next ten years,” says Flatley. “If you look at sequencing entire countries the potential volumes are really staggering, even at $1,000 a genome.


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