Carlsbad, Calif.-based Life Technologies plans to introduce today a machine that can map a person’s entire genome for just $1000. One thousand dollars per genome has been a longstanding goal, because it should make the whole genome sequencing useful for medicine and drug discovery.
The machine, the Ion Proton Sequencer, is based on a chip. When the company first reported the sequencing of a person’s genome with it in Nature in July, it was none other than Gordon Moore’s genome they sequenced.
The chip is basically a bunch of wells with transistors at the bottom. The transistors are sensitive to the pH in the well. A bead with a single stranded fragment of DNA is stuck in the well and then each of the chemicals that make up a DNA sequence are washed over the wells in turn. The chemicals bind to their complementary spot on the fragment, dropping the pH in the well, and triggering the transistor. We’ll have more on the workings of the device later, but as you can see it takes direct advantage of everything the chip industry has to offer.
Here at IEEE Spectrum we’ve been betting on a different chip technology to win the $1000 race: nanopore sequencing. Those chips squeeze DNA through a nanoscopic pore in the semiconductor and try to read the distinctive change each letter in the sequence makes in the amount of current flowing through the pore. That technology has yet to sequence anybody’s or anything’s genome, so I think we can safely say that we picked the wrong horse here. However, if somebody does manage to commercialize that technology it could prove to be even faster, if not cheaper than what Life Technologies has done.
If nothing else, Life Technologies’ announcement puts into focus how far semiconductor technology and the computing it enables have taken our quest to figure out the basics of our own biology. The first human genome sequenced, at a cost of US $3 billion, was a triumph of automation and lived or died on the ability of a massive computing effort. (The Neanderthal genome was another computing triumph.) And genome analysis has long been the domain of chips and chip-making technology.
Samuel K. Moore is the senior editor at IEEE Spectrum in charge of semiconductors coverage. An IEEE member, he has a bachelor's degree in biomedical engineering from Brown University and a master's degree in journalism from New York University.