Discount Dna

Image: Noel Hendrickson

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I'm standing in a balmy room kept warm because the chemicals swishing through dishwasher-size machines on either side of me like it that way. The light is low as small robotic arms inside the devices—they have clear, Plexiglas housings—are moving around samples of DNA, injecting them into flat, microfluidic chips that are a key component of separating out each of the six billion G's, T's, A's, and C's embedded in a human cell.

Right now, gene-testing companies will sell you a near-complete perusal of your own DNA for somewhere between $100,000 and $350,000. A year ago it cost $1 million. Five years ago, the cost of the first complete human genome was $2.7 billion.

Now, this company I'm visiting—Complete Genomics, based in Mountain View, California—says that, come next spring, it will be able to tease out virtually every nucleotide—the A's, C's, T's and G's that make up DNA—inside you or me for a mere $5,000.

If true, this breakthrough in cost reduction will allow thousands (possibly millions) of people to be given the sort of top-to-bottom genetic scan that has been so costly that only about 20 or so people have done it—including famed geneticists James Watson and Craig Venter.

Having one's complete genome sequenced is far more thorough than the scans done by companies such as 23andMe (also in Mountain View) and DeCodeMe of Iceland. These companies offer direct-to-consumer testing of a person's DNA for between $399 and $995. But they test only about million genetic markers out of the six billion nucleotides that reside inside human cells.

The one million markers have been chosen because they are useful for finding genetic traits that can cause one person to have a higher risk factor for a disease than another.

But these assessments are only outlines of a person's entire genome and thus cannot provide a total assessment of a person's genetic proclivities. They are like having the CliffsNotes to Leo Tolstoy's War and Peace rather than the actual novel.

The significance of knowing so much about people's genetics will be important in understanding disease and eventually designing drugs tailored to individual people.

"Many chronic and life-threatening human diseases have a genetic basis," said Harvard geneticist George Church, a member of Complete Genomics' scientific advisory board, in a Complete press release. "The ability to compare a significant number of genomes of people with a disease against those without the disease is central to enabling drug discovery and the development of new diagnostics."

Founded in 2006, the company recently emerged from stealth mode using technology developed primarily by chief scientific officer Radoje Drmanac, a key scientist for the Department of Energy during the Human Genome Project and a co-founder of Hyseq, a gene-discovery and drug company.

The technology employs arrays (the chips I see in the warm room) that are extremely dense and use chemicals to separate out the DNA, special enzymes to join them together, and imaging methods to identify them—patented processes that Complete's C.E.O. Clifford Reid says have dramatically reduced costs.

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