I've had the luxury of working at my current job for nearly 10 years. When I graduated from school with a CS degree in 1999, people were getting paid $60k to write HTML, with the only qualification that you have a pulse. At one interview at the time, I mentioned this "new" thing called XML (which actually was relatively new in 1999), and the CIO of one company said "Oh yeah, I need to look into that." I didn't end up working for that company.
Anyhoo, I decided to work for this great place that was ramping up its work on the
Human Genome Project. For the next few years, at cocktail parties I could actually attract a crowd by telling people I worked on the Human Genome Project. Ah, those were the days. When I catch up with friends nowadays, they invariably ask me what has become of the HGP. What the heck am I getting paid to work on, now that the HGP has been done for the better part of a decade?
The technology for doing genome sequencing has evolved by leaps and bounds. We're not quite at
GATTACA yet, but I no longer consider the rapid DNA sequencing in the movie pure science fiction. So where are we now with DNA sequencing? I'll answer by way of analogy.
Imagine the year is 1979, 10 years after the Apollo landing. The space shuttle hasn't even lifted off for the first time. NASA's technology has found its way into all kinds of interesting practical uses, but people aren't zooming around the globe much faster. Spaceplanes still haven't shown up. Rapid sub-orbital intercontinental travel still isn't available today, 40 years later.
If space travel had progressed with the speed of DNA sequencing and genome biology in general, by 1979 the US alone would have been launching spaceplanes about twice a day. Other countries would have built similar facilities. Suborbital flights would have been fairly routine, but not quite yet widespread. Still expensive, but in the $10k range. This would have profoundly changed the world in numerous ways. Just think of how it would change the shipping industry, and how this would ripple through other sectors of the economy to effect daily life. At this pace, by about 1990 (which in my comparison puts us at about 2020), people would be zooming around in spaceplane buses (I doubt folks will ever have their own space plane for a variety of technical and safety reasons). What's the genome biology equivalent here? Right now there are ways to sequence a single human genome in about a week for under $20k. The price continues to plummet, by the way.
Illumina,
Roche, and
SOLiD are some of the more popular technologies.
Pacific Biosciences and
Complete Genomics are two other companies currently developing the next-next generation of sequencing systems.
But so what? Why should we want to sequence a genome for $20k? Many of us don't. We want to sequence fractions of genomes from thousands of patients. The price per genome is an interesting point of comparison, but it misleads people into thinking that what we want to do is sequence all parts of a genome. Sometimes that's useful and sometimes it's an incredible waste. Imagine if UPS only sold shipping services in 747-sized batch. You couldn't send a small box without purchasing an entire 747 flight. Focusing on the cost-per-genome number misses the fact that there are thousands of researchers and clinicians out there who could greatly improve your health by just sequencing a tiny fraction of your genome, if only they could order a few kilobases--or even hundreds of bases--cheaply, quickly, and accurately. Many of us are focused on inventing these massively parallel, multiplexed sequencing systems.
So why is this a good thing to throw money at?
Because doing so will bring about incredible new ways to accurately diagnose (and eventually treat) the myriad forms of cancer. Because doing so will bring about tremendous advances in the way we treat and diagnose terrible infectious diseases and drug resistant strains of all sorts of nasty bugs. What's the timeline? It's hard to say, but I'm banking on two or three generations being able to look back at how we treat cancer and infectious disease now and being as repulsed as we are now by Civil War era "surgery".
To use another analogy, if car mechanics worked the way our health providers worked, they would replace the engine every time you needed your oil changed because they couldn't tell that the problem was your oil. In the rare circumstance that the mechanic could deduce that the oil was the problem, he would replace it with
olive oil because he couldn't tell what kind of oil your particular kind of car needs. This isn't a diss on health care providers. They're doing the best they can with what limited knowledge they can glean from current technology. Doing all of this sequencing--along with all the other painstaking population genetics and clinical work--will bring about incredible health benefits.
But what in particular are they paying me for? To help design and build the software systems that keep track of many
terrabytes of sequence data that we produce each
day.