What’s so special about a $1,000 genome?

In every technological revolution, there is a first seminal breakthrough, a burst of commercial activity from many individual companies, and then the eventual maturing of a market, of standards, and the discovery of new uses for the technology in often surprising ways.

To take one example from last century, the Smithsonian Institution has a great exhibit on the Wright brothers, which includes the original “first powered, heavier-than-air machine to achieve controlled, sustained flight with a pilot aboard.”

Seeing the actual plane, it appears surprisingly well-engineered and constructed, and the exhibit describes in detail the intense competition in the following few years of many different kinds of aircraft and the people and companies behind them. Both World Wars, trans-Atlantic achievements, and the development of the commercial airline industry mark seminal periods of technology and engineering development that continue today.

I hardly think twice about hopping on-board a flight across the country; indeed as a frequent business traveler I am personally annoyed when I can’t get from Los Angeles to Washington DC on a direct 5-hour flight. And yet this market started from zero in 1903 to USD $500 Billion in 2010 (this is a global passenger airline business estimate, not including the air freight business). Along similar lines, we don’t think at all of the minor miracle that a book can be delivered to your doorstep via overnight mail, or that the fresh fish you are enjoying at a restaurant actually is seabass from Chile.

And so the next-generation sequencing business is witnessing its very early years of technological development, intense competition of many different approaches, new-found uses for the technology, and the eventual maturing of a market and of standards. A few years ago soon after joining Life Technologies, I attended an internal training for next-generation sequencing, where it was stated that where ‘a company with a technology meets a large market opportunity miracles happen’.

Next-generation sequencing started from zero in 2005, to an estimated USD $1 Billion in 2011, and growing at an estimated rate of 20% every year for the foreseeable future. And the costs are plummeting faster than Moore’s Law – instead of halving its cost every 18 months, the trajectory of sequencing costs due to this disruptive technical innovation is on the order of of halving about every 6 months. (The National Human Genome Research Institute maintains data about sequencing costs here, and compares it to Moore’s Law.) For years, the NHGRI funded advanced sequencing technology (their webpage here goes back to 2004, and has some interesting recipients if you dig deeper there, such as 454 / Curagen in 2004). The NHGRI used the $1,000 human genome as an ambitious yet somewhat arbitrary marker; in 2004 using Sanger Capillary Electrophoresis by those charts it was on the order of USD $40 Million. Ambitious in scope, these grants serve as an important facilitator to spur additional technology breakthroughs.

George Church presented recently at ABRF (Association for Biomolecular Resource Facilities), where he spoke of a $10 genome, and how important that will be, on its way to becoming even less expensive. Yet the point to make is that it isn’t an arbitrary price-point, but rather what it enables by virtue of the side-product of that low-cost, which is the remarkable effect of information sharing. Wikipedia, TripAdvisor, Amazon’s customer reviews, Twitter – these are a few examples of great value added by individuals volunteering information that increases its value, enabled by the vast communication and computer infrastructure investments for other purposes over many years.

And so it will be with the $1,000 genome, to be likely achieved in 2013, with the Archon X Prize associated with it, on the way to a much less expensive genome a few years later, and unexpected and somewhat unbelievable applications of this technology (genome engineering, synthetic biology, biological computing, nanotiles, consumer biohacking). A bright and exciting future – it’s going to be a fun ride.