It's a long-awaited scientific prize: swipe a tiny bit of DNA, and run a cheap, accurate, and portable test to get a person's full genetic blueprint for $1,000. A new machine that promises to help usher in this era recently took an early test lap by decoding—in just three days—the genome of the E. coli strains that plagued Germany this past May.
Produced by Ion Torrent, a division of Life Technologies, the Personal Genome Machine (PGM) packs a genomic sequencer onto a computer chip able to read a bacterial genome in less than two hours, and produce a rough draft of a human genome. Announced last year, the machine is finally being used in the real world. For a recent paper in Nature, the PGM researchers showed off their device by sequencing the DNA of Intel cofounder Gordon Moore, whose oft-cited law predicts the number of transistors on a chip will double about every two years (accurate for about 40 years now, according to Intel). That's a fitting choice because Moore's prophetic words have manifested themselves in the PGM chip which may ultimately put genome sequencing in the palm of your hand.
The scientific community is awaiting the day we can routinely scan peoples' genetic code for about $1,000, putting it "firmly in the realm of advanced clinical diagnostic test." The National Institutes of Health estimates this price point will allow researchers to build a baseline human genome to compare genetic aberrations and detect, treat, perhaps cure hereditary diseases, cancers, and other afflictions. Such a technology would also open up vast new possibilities for scientists studying biodiversity, epidemiologists tracking diseases, and even governments monitoring global fisheries.
This alignment of affordable hardware and bioinformatics is arriving faster than many had imagined with the Ion Torrent approach, "lab-on-a-chip" technologies, and other breakthroughs. The cost of sequencing a genome fell from billions of dollars in 2003 to $10-20 million in 2006 and now stands at about $2,000 to $4,000.
But the technology isn't landing in your pocket anytime soon. While cheap by historical standards, the PGM technology is nowhere near the $1,000-per-sequence range. Genomics researcher Daniel MacArthur, writing for Wired Science, called the technique "extremely expensive" and "a poor-quality genome" by modern criteria. But given the blistering pace of genetic research, we're getting closer and closer to cheap, rapid, handheld genome mapping.
[Image: Flickr user buckyishungry]