Saturday, July 23, 2011

The $1,000 genome: Coming to you in October 2012!

The National Human Genome Research Institute (NHGRI) of the National Institutes of Health (NIH) provided funding and leadership for the United States’ participation in the Human Genome Project. Since the first human genone was sequenced, the NHGRI has continued supporting the development of new applications of genomics, including human re-sequencing, the sequencing model organisms, developing new technologies, and creating new data analysis methods. In short, they have their finger on the pulse of genomics.

A few months ago, I stumbled onto a page on the NHGRI website page that tracks the cost of sequencing since 2001—shortly after the first human genome was completed. What’s clear in their “cost per genome” graph is the steady decrease in cost that has occurred over the past decade.
Looking more closely at the graph, you’ll also notice a dramatic change in its slope starting in late 2007—a striking shift that coincides with the introduction of “Next Generation” sequencing technologies from Applied Biosystems and Illumina. Since then, the cost of sequencing has been falling at a truly astounding rate.
If you download the Excel spreadsheet containing the data NHGRI used to generate its cost graph, and do a little analysis, you’ll find that the cost of sequencing has been falling by one third each quarter. Ignoring slight fluctuations, this drop has been as close to consistent as one could imagine, which allows us to extrapolate where costs are headed.

Although NHGRI makes some very “old school” assumptions about sequencing, including the use of a mix of new and old technologies, it ignores recent announcements, such as Illumina’s $4,000 genome, Knome’s $4,998 genome and analysis package, and BGI’s “summer special” $999 exome sequencing. Consequently, the NHGRI estimate is much higher than the “street price”: for sequencing; when  Illumina made its $4k announcement in April, the NHGRI sequencing cost estimate was $13,835.

But let’s be conservative and start from NHGRI’s estimate. If we assume a one-third drop every quarter, the cost of sequencing will fall to $1,143 by October 2012. Extrapolate further, and the cost will drop to $94 by April 2014. (See graph below.). And remember, this ignores current prices as well as the potential for third generation technologies. If PacBio, Oxford Nanopore, NabSys, GnuBio, Ion Torrent, or one of a dozen other players comes out with a new machine, who knows how fast costs wil fall?

Regardless, the big question is no longer when the $1,000 genome (or even the $100 genome) will arrive but rather, what we’ll do with the data once we have it. It’s time to start thinking about the scenarios that will present themselves everywhere, from doctor’s offices to high-school science labs, once genome sequencing becomes less expensive than two tanks of gasoline or a month’s worth of lattes at Starbucks.


1 comment:

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