Genome as Commodity

In a few years, millions will have purchased their own genome

3 min read

For the price of a sports car, you can have a pint of your blood drawn and a month later receive your entire genome—all 6 billion base pairs—encoded in a 1.5-gigabyte data file. That means the price has dropped to 1/50 000 of what it was less than a decade ago (the first genome, after all, cost US $3 billion). Yet the price is expected to fall to 1/1000 of the current price in the next four years.

The cultural ramifications of a $100 genome—which is where we’re headed, whether it takes 4 years or 10—are as wide and deep as those of any other recent innovation, including search engines and cellphones.

”Personal genomics goes far beyond medicine,” says George Church, a professor of genetics at Harvard Medical School and the founder of the open-access Personal Genome Project. ”What if you could test everything in the air around you? You could say, ’I don’t want to go into that room because it’s full of swine flu.’ ” Church suggests that refrigerator-size vending machines offering rapid genetic testing of biosamples may one day be as common as Internet kiosks. Imagine being able to easily and cheaply find out every genetic pitfall and bragging point about a potential mate right in the middle of your first date.

Of course, genetic sequencing today is neither fully automated nor cheap enough to be delivered by vending machine. But the price is dropping faster than that of transistors in the glory days of Moore’s Law.

Today, Knome, in Cambridge, Mass., will sequence your entire genome for $68 500. Illumina, based in San Diego, goes one better—it charges only $48 000 and delivers the data on a new MacBook or iMac that you get to keep. Jay Flatley, Illumina’s president and CEO, says that within two years a personal genome will cost between $5000 and $10 000 and that within five years ”we’ll be pressing up against $1000.” As of last September, Illumina had sequenced 28 complete human genomes. ”Next year,” Flatley says, ”there will be thousands.”

One company is already charging a mere $5000 per genome—in bulk orders of a thousand or more. Complete Genomics of Mountain View, Calif., which styles itself as a research genomics institution only, doesn’t offer a single-genome price.

Nevertheless, CEO Clifford Reid says he sees a consumer genomics marketplace springing up out of nowhere—like that for personal computers in the 1980s. ”Right now it’s a purchase for wealthy individuals, because the price is so high and the medically actionable information that you learn from your genome is so low.” But, Reid says, ”it’s inevitable that this is going to be a very large market. The only question is how long it will take the prices to come down and for the discoveries to go up.” [See "Path to the Personal Genome" for more market trends.]

Church agrees that early adopters are helping to underwrite the fledgling personal genomics industry. ”The people who bought cellphones the size of their heads—the rest of the world is benefitting from the fact that they fueled that embryonic industry at a time when it needed money,” Church said. ”The same is true for personal genomics. The people who are willing to do the early adoption today will be paying for the privilege of being guinea pigs.”

Church’s Personal Genome Project seeks to cut price out of the equation entirely, underwriting the sequencing of genomes of people whose histories, conditions, or medical records it considers interesting for research purposes—making their genomes and medical records, he warns, publicly available. ”We are not publishing our volunteers’ names,” Church said. ”But we tell them to think about it as if we were. We’re making enough information about them available that, if somebody worked at it, they could figure out the name.” He says that 15 000 people have volunteered for the project already.

One person who would, nonetheless, like to participate is Laura White, a lead analyst at life sciences advisory firm TSG Partners, in Atlanta. She hasn’t yet heard whether she’s been accepted as a volunteer. ”For me, it’s fascinating, which is why I signed up,” she said. ”I could end up finding out I have something I’m not comfortable with at all. But given the option, I want to know.”

This article originally appeared in print as "The $100 Genome."

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This CAD Program Can Design New Organisms

Genetic engineers have a powerful new tool to write and edit DNA code

11 min read
A photo showing machinery in a lab

Foundries such as the Edinburgh Genome Foundry assemble fragments of synthetic DNA and send them to labs for testing in cells.

Edinburgh Genome Foundry, University of Edinburgh

In the next decade, medical science may finally advance cures for some of the most complex diseases that plague humanity. Many diseases are caused by mutations in the human genome, which can either be inherited from our parents (such as in cystic fibrosis), or acquired during life, such as most types of cancer. For some of these conditions, medical researchers have identified the exact mutations that lead to disease; but in many more, they're still seeking answers. And without understanding the cause of a problem, it's pretty tough to find a cure.

We believe that a key enabling technology in this quest is a computer-aided design (CAD) program for genome editing, which our organization is launching this week at the Genome Project-write (GP-write) conference.

With this CAD program, medical researchers will be able to quickly design hundreds of different genomes with any combination of mutations and send the genetic code to a company that manufactures strings of DNA. Those fragments of synthesized DNA can then be sent to a foundry for assembly, and finally to a lab where the designed genomes can be tested in cells. Based on how the cells grow, researchers can use the CAD program to iterate with a new batch of redesigned genomes, sharing data for collaborative efforts. Enabling fast redesign of thousands of variants can only be achieved through automation; at that scale, researchers just might identify the combinations of mutations that are causing genetic diseases. This is the first critical R&D step toward finding cures.

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