There are plenty of uses beyond cancer treatment. Because Rothberg and his wife are both Ashkenazi Jews, they were advised to get 15 genetic tests (for such things as Tay-Sachs disease) before they had children. This, too, he says, represents a perfect niche for the PGM. As new disease genes are discovered by sequencing hundreds of thousands of people, a swelling population will undergo specific panels of tests of 15 genes or more.
Another free-machine recipient, Mitchell Sogin of the Marine Biology Laboratory in Woods Hole, has developed a way to use DNA sequencing to track down sources of fecal contamination in drinking water in developing countries and elsewhere. He is currently using 454 machines for the project but hopes the PGM will be fast enough to pinpoint the source of microbes in real time. Ion Torrent has competition here. In December Pacific Biosciences used its DNA reader to identify the lethal cholera germ in Haiti. The data proved that the microbes did not travel across the ocean, as some feared, and were instead carried by human hosts who might have been caught by better screening.
Ironically, perhaps, the first iteration of Rothberg's genome machine is poorly suited to the one market closest to his heart: rare inherited diseases. These are "at the core of everything I do," he says. There are roughly 6,000 such diseases, including Charcot-Marie-Tooth, a neurological disorder, and Miller Syndrome, characterized by severe facial and limb deformities. Their causes are being identified using DNA scanning. And a few kids had their treatment changed as well. Some diseases may not be so rare. Autism could turn out to be a collection of unusual genetic defects that produce similar symptoms.
Rothberg won't openly discuss his daughter, who was diagnosed with tuberous sclerosis complex (TSC) in 1997 when she was an infant. And yet, during conversations, he constantly steers the subject back to the disease, even though it makes him emotional.
In 2001 Rothberg and his wife, Bonnie, a medical epidemiologist, started the Rothberg Institute for Childhood Diseases in Guilford, near his 11-acre home, to speed the hunt for rare disease cures. Two genes that cause most cases of TSC are already known. Rothberg's Institute is sponsoring a search for a third. In 2003 a small clinical trial sponsored by the Institute showed that the generic transplant drug rapamycin targeted the two bad genes and helped tuberous sclerosis symptoms, making some skin lesions go away. In the wake of the results Novartis decided to test its similar medicine, Afinitor, in kids with the condition. It worked and is now approved for preventing brain tumors in kids with the disease.
Rothberg says a few years ago he would have snapped at anyone who told him that TSC might be curable. "I would have said you're naive, the kidney's damaged, the skin's damaged," he says. Now he is much more optimistic.
There are still respected scientists who think genomic sequencing is doomed to stay forever in the labs, absorbing funds in absurd proportion to the benefits they provide. Cynics are advised to recall what Kenneth Olsen, founder of minicomputer maker Digital Equipment Corp., once told the World Future Society: "There is no reason for any individual to have a computer in his home."
posted on January 09, 2011