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February 23, 2012

BehindTheMedspeak: $1,000 human genome sequencing — while you wait


The race to make sequencing a person's complete genome ordinary, affordable and fast is moving ahead more quickly than almost anyone could have envisioned.


Last July Jonathan Rothberg, CEO of Connecticult-based Ion Torrent, predicted that by 2013 his company would develop a chip that could sequence an entire human genome.


Last month the company unveiled its new Ion Proton tabletop sequencer, able "to sequence an entire human genome in a day for $1,000 — a price the biotech industry has been working toward for years because it would bring the cost down to the level of a medical test."

In fact, the technology progression in DNA sequencing is moving faster than Moore's law.

Last week Friday, British-based Oxford Nanopore unveiled its "MiniON," a disposable DNA sequencing device the size of a memory stick capable of sequencing a human genome in six hours.

The company's "GridION," a heavy-duty device, is theoretically capable of sequencing a human genome in 15 minutes.

Within the next several years, every child born in developed countries will have its DNA completely sequenced at birth.

People will have their DNA sequenced throughout their lives on a regular basis, approached as one more routine blood test.


Because it won't be simply the order of base pairs that will be reported but, even more importantly, the genes that are active and silent at a given point in a person's life.

All of us go through life with any number of genes that, if active, would result in lethal illnesses.

These genes for the most part remain silenced by epigenetic switches.

With the ability to quickly and cheaply "read" the base pair alphabet a given, an understanding of how environment and stress combine to turn genes on and off becomes the prime target of diagnosis, treatment and prevention.

February 23, 2012 at 02:01 PM | Permalink


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Oncogenes, mutagens and cancer, oh my! Aside from the privacy, bias and child support issues that this technology would foster, I suspect that many industries will oppose ongoing testing where their workers' exposure to the employer's environment would cause pathology that could be proved to be caused by the employer.

Microwave popcorn anyone?

Posted by: 6.02*10^23 | Feb 23, 2012 2:59:01 PM

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