Finding the errors that cause disease and distinguishing them from numerous harmless genetic variants is turning out to be an immense data-crunching challenge. But the technology to meet that challenge is also improving at an extraordinary rate. It took government researchers a decade to decode the first human genome at a cost of $3 billion to taxpayers. In a virtual tie with private efforts by gene maverick Craig Venter, the race was finally finished in 2001. Now you can get an accurate reading of a person's entire DNA sequence for only $10,000 in a few weeks. Nearly 3,000 people have gotten such scans, mostly as part of research studies. The number could soar to hundreds of thousands by 2012, say sequencing experts. "What is possible now . . . even a few years ago would have been unthinkable," National Institutes of Health director Francis Collins said in a recent speech.
Despite the steady drone of genetics studies in top medical journals, most scientists still don't have access to DNA-decoding technology. Existing sequencers are like computer mainframes in the 1960s. They cost $600,000, take a week to yield results and need scads of technicians to run them. Half of the 1,400 DNA-sequencing machines in the world reside at just 20 big academic and government research centers, according to Goldman Sachs.
Rothberg's machine could change all that through speed of analysis and wider dissemination of tools. He says that only 400 labs are currently doing this sort of genomics, and he wants the PGM to open the field to 4,000 research groups that are not participating. That will multiply the number of minds working on genetics problems and unleash lots of experiments that now languish on the sidelines. "I can create a fanatical user base, and people will start coming up with more and more applications for the technology," says Rothberg. "The demand is going to be enormous," predicts UC, Davis researcher Jonathan Eisen. "You're going to see a huge number of people buying it." George Church--a Harvard gene researcher, sequencing pioneer and Ion Torrent adviser--predicts the PGM will be "like an iPad" for geneticists. Everyone will want it "big-time, even if there are warts."
But as of now it's still a small-time business. Right now the market for DNA sequencing hardware is $1.5 billion, mostly through sales to scientists. Medical gene tests and other molecular diagnostics generate another $2.6 billion, according to PricewaterhouseCoopers.
How do you get from a $4 billion business to a $100 billion one? Rothberg's answer is that, like radiology, there will be armies of trained physicians using specialized machines, as gene scanning hits the medical mainstream; that gets expensive very quickly. Here are the assumptions--admittedly very speculative--for what could happen in 20 years:
- Cancer is the biggest near-term market. Today treating a cancer patient costs hundreds of thousands, sometimes millions, of dollars. Some breast cancer patients already get a specialized gene test to help determine what treatment is right for them. If similar gene tests become routine for all 4 million cancer patients in the U.S. and Europe, as many oncologists expect, this alone could be a $20 billion market. Some patients might be sequenced multiple times as a tumor spreads and mutates. Total so far: $40 billion.
- Another $10 billion market could come in scanning kids and adults with unexplained symptoms for rare inherited diseases or other genetic risk factors. A whole new medical specialty may sprout up to interpret the complicated data produced by gene scans and tell patients what it all means, another $10 billion. Now you're up to $60 billion.
- Tracking the movement of infections in hospitals, airports and public places like shopping malls to identify microbes and prevent them from becoming epidemics--that has to be a $10 billion industry. Running tab: $70 billion.
- If costs drop low enough, affluent people may start getting their genomes--or those of their newborn children--on a thumb drive as a precautionary measure. If 50 million people a year do this at a cost of $2,000 per test, that would bring the tally to $80 billion.
- The market for sequencing genes in agriculture, resulting in better mate selection in the livestock industry and for optimal seed selection to get maximum yields is, perhaps, a $5 billion market. Total thus far: $85 billion.
- Numerous other industrial applications, such as searching for designer biofuels, designing new enzymes for laundry detergent--and doing other things that haven't even been imagined yet could easily add another $15 billion over time. Et voilà: $100 billion.
posted on January 08, 2011