Tuesday, January 29, 2013

The Future of Medicine Is Now - DNA Sequencing for Routine Checkups

DNA Sequencing for Routine Checkups
Amy Dockser Marcus - The Wall Street Journal

At a genetics conference in November, Oxford Nanopore Technologies unveiled the first of a generation of tiny DNA sequencing devices that many predict will eventually be as ubiquitous as cellphones—it's already the size of one.

Since the first sequencing of the human genome was completed in 2003 at a price tag of over $2 billion, the speed, price and accuracy of the technology have all improved. Illumina Inc. ILMN -1.19% has dropped its price for individual readouts to $5,000; earlier this year, Life Technologies introduced a sequencer it says can map the human genome for $1,000. The smallest machine is now desktop-size.

But nanopore sequencing devices, which are designed to be even smaller and more affordable, could speed efforts to make gene sequencing a routine part of a visit to the doctor's office. DNA molecules are exceedingly long and complicated; that makes them hard to read. Nanopore technology measures changes in the molecules' electrical current as the DNA is threaded in a single strand through tiny holes called "nanopores" created in a membrane.

So far, U.K.-based Oxford has released the results of sequencing a virus genome with this technique. The company hasn't provided data, however, showing that the sequencers can analyze the much larger human genome. A spokeswoman for Oxford says the company is working hard toward being able to sell devices, including one that is expected to cost under $1,000, though it doesn't yet have a launch date.

Amit Meller—an associate professor at Boston University, a scientific adviser at Oxford and the co-founder of Noblegen Biosciences—is at work on another nanopore device that he says would use fluorescent signals to read the DNA information. His company is still a number of years away from a prototype, but Dr. Meller says the goal is to speed up sequencing even more—with results in a few hours, not the current weeks or days, at a cost of less than $100.

A version of this article appeared December 29, 2012, on page C2 in the U.S. edition of The Wall Street Journal
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