Eliza Strickland isn't the first journalist to undergo experimental genetic testing, nor the first to write about the advent of faster, cheaper sequencing machines that could one day become part of routine clinical testing and care. But in an article in IEEE Spectrum, where she is associate editor, she weaves her personal story together with reporting that addresses the ethical, business, scientific issues surrounding personal genome sequencing. It's a nice piece.
"I want to learn my own biological secrets," she writes. "I want to get a look at the unique DNA sequence that defines my physical quirks, characteristics, and traits, including my nearsighted blue eyes, my freckles, my type O-positive blood, and possibly some lurking predisposition to disease that will kill me in the end."
Not everybody wants to know that sort of thing, including Strickland's parents. Her results could have implications for her parents, her sister, and her sister's children. "I might also find out that I’m a carrier of some recessive genetic ailment, meaning that if my husband and I choose to have children and he’s a carrier too, our kids could end up with that disorder. If there’s bad news, do I want to know it?" She does, she tells Jonathan Rothberg, the founder and CEO of Ion Torrent, whom she calls "the mad scientist of genomics himself, the arrogant upstart of biology." And her family–including her parents, in the picture–decides to go along.
Her genome was sequenced with a device Rothberg calls the Ion Proton System, which can crank out a human genome sequence in a few hours, Strickland reports. The story focuses mostly on Rothberg and his company and product, but it nicely puts all of that in the context of the human genome project, Ion Torrent's competitors, and the future of medicine. She explains both the genetic technology and the electronic technology lucidly, including the significance of Rothberg's use of ion-sensitive field-effect transistors, or ISFETs, which I'd never heard of but now understand–at least a little.
The payoff here is, of course, what Strickland finds out about her genome. When she is handed the results, she discovers–
If you want to know, the link is here. And don't just scroll to the bottom.
-Paul Raeburn
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