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New Genome Decoder Holds Promise, Raises Ethics Questions


The Ion Proton Sequencer is now for sale.
The Ion Proton Sequencer is now for sale.
What can you learn about a person in a day? You can note their eye color and height, find out whether they have siblings, and perhaps what they like to do in their free time. But how about learning that a person is genetically predisposed to developing colon cancer, or is likely to never go bald?

The day when such information is readily attainable may not be far off, thanks to new devices like the Ion Proton Sequencer. It's the first of a new generation of genome decoders that can read all 3 billion letters of a person's DNA -- the unique genetic information that determines how every living organism develops and functions -- in less time and for less money than ever before.

To do that, it relies on semiconductor chip technology similar to that found in digital cameras to observe and record bits of genetic data.

For now at least, the machine is intended solely for research purposes, not medical treatment. But the desktop device, which is produced by the U.S. biotech company Life Technologies, is the first to offer affordable genome decoding. A full DNA sequencing costs around $1,000 and takes less than a day, where it used to take weeks and cost as much as 10 times as much. The company began accepting orders on January 10.

Maneesh Jain, Life Technologies' vice president of marketing, says the reduction in time and cost will help advance modern gene science -- everything from what cell mutations cause cancer to how drugs can be tailored to individual patients.

"For the same amount of money, you can get a lot more done. What that means is that you can do better research by looking at a broader set of samples. The time being shortened so significantly means that in the same amount of time, you can do multiple experiments," Jain says. "You're going to tremendously accelerate your research cycle, and so the pace of discovery is going to accelerate tremendously as well."

Richard Gibbs, director of the Human Genome Sequencing Center at Baylor College of Medicine in the United States, says, "A genome sequence for $1,000 was a pipe-dream just a few years ago." The new technology will "transform the clinical applications of sequencing," he adds.

A semiconductor chip powers the new genome machine's work.
A semiconductor chip powers the new genome machine's work.
Baylor is one of three U.S. medical centers that will be the first recipients of the Ion Proton Sequencer. The machines will be available outside the United States later this year.

Experts say that similar machines -- and less expensive versions -- will one day be common in hospitals and doctors' offices.

Ethics Issues

But for all its potential benefits, the increasing availability of genetic information also brings up a host of ethical concerns.

Arthur Caplan, the director of the Center for Bioethics at the University of Pennsylvania, says foremost among these is the issue of personal privacy. "It doesn't take a lot to get a piece of somebody's DNA. You can get it from a tissue or from a glass. So we do have the risk of surreptitious testing -- somebody testing you without your knowledge [or] without your consent -- and I think that raises interesting issues," he says.

"They range from paternity claims, which you can establish through genes, all the way over to somebody saying: 'Gee, I wonder if this person I'm going to marry has some risk factors [for a disease]. Maybe I'll swipe a bit of their DNA and secretly analyze it and find out whether they'd be a good mate or not.'"

And should insurance companies be allowed to use a person's genetic profile to determine fees? What about parents who want to find out the traits of their unborn children?

Caplan says people might use the new instrument to try and forecast anything from their baby's sexual orientation to his risk of getting acne.

"How far do you take this testing in terms of saying [whether] those are things that people need to know about or take action on?" Caplan says. "What if parents say they want their kids tested for this sort of stuff, or even their fetuses or their embryos? We're going to have a lot of controversy over the application of genetic testing."

The legal framework for personal privacy, Caplan adds, will need to be extended to the realm of genetic information.

But Life Technologies' Jain notes that the genome technology has many uses that raise no ethical dilemmas.

Last spring, for example, an earlier version of the machine helped scientists discover important information about the strain of deadly E. coli bacteria that struck in Germany, killing dozens and sickening hundreds.

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