Firm announces full human genome sequencing for $1,000 -- a long-sought threshold

All kinds of technology had to come together in the right way, and the right price, for the Internet to become what it is today. The Internet wouldn't have developed without dial up Internet access, and then high-speed access, at affordable prices. Browsers and modems and operating systems needed to develop in ways that could be built upon as broad platforms. And, critically, personal computers had to be affordable to the mass market.

While the digital revolution has been swirling around us for the last two decades, the medical community has been steadily promising -- and failing to deliver -- a similar explosion of creative innovation around "personalized medicine," based on advances in genetic technology. Much of the failure can be attributed to cost. The price of personal genome sequencing has simply been too high to be practical to the mass market.

One manufacturer of genome sequencers appears to have broken a critical cost barrier, however. Illumina, Inc. announced earlier this week that its HiSeq X Ten sequencing platform can produce a complete human genome for under $1000.

This is different from the $99 tests that consumer genomics firm 23andMe had offered to the public before the FDA asked the firm to stop marketing its wares. 23andMe -- using an Illumina array -- doesn't read every gene. This one does.

Scientists began talking about the goal of a $1000 genome in 2001. Genomics pioneer Craig Venter began a genomics conference in Boston in 2002 by discussing the $1,000 genome as the point at which personalized medicine really becomes possible, then staked a $500,000 science prize for automated DNA sequencing technology at $1000 a pop. Notably, the first human genome to be sequenced cost about $3 billion, 11 years ago.

At $1000, it is conceivable that some insurance firms -- all of which are barred by federal law from discriminating against customers on the basis of genetic information -- may begin considering coverage of genome sequencing as a way to reduce medical costs, because the availability of genomic data could conceivably reduce other diagnostic testing costs for hard-to-find diseases. Other clients may elect to pay out of pocket.

The lower price point changes the constraints on real research into drug interactions based on genetic profile, allergy sensitivities and genetic disorders. Instead of the cost of the sequencing itself being a constraint, the cost of crunching and storing the genetic data itself becomes an issue.

The machine itself costs about $10 million and can process about 20,000 sequences in a year, MedCity notes. That implies a period of about 5 years at maximum capacity to pay off, excluding operating costs. More importantly, though, the existence of an inexpensive option for a full-genome sequence may expand the size of the market for personal genetic services, which 23andMe estimated to be about $50 million in the US today.