May 11, 2011

The Genomics Conundrum

Michael Feldman

Over the last few years, biotech advocates have been preparing consumers with the idea of a $1,000 genome. At that price, a new era of personalized medicine will be at hand — or so says the conventional wisdom.

But the $1,000 genome just delivers the raw data of DNA base pairs. The analysis of that genome, that is, turning it into something useful, costs 10 times as much. That according to a recent article in Chemical & Engineering News (C&EN), which cited an article on the subject that appeared last fall in Genome Medicine.

The C&EN piece points out that while the price of genome sequencing has dropped dramatically, from close to a million dollars in 2007 to around a thousand dollars in 2010, the price of analysis has remained stubbornly high. And the reason? According to the article, it’s basically a question of data overload, for both the algorithms and computers that mine the data, as well as the scientists that have to direct the analysis:

[G]enomics analysis is a multidisciplinary function. In assessing one genome from a specific patient, data analysis needs to be performed by molecular and computational biologists, geneticists, pathologists, and physicians, all with different skill sets and requirements of the data.

One solution is to try to design the data collection with its end use in mind. According to Elaine Mardis, director of technology development at the Genome Institute at Washington University, the rationale is to reduce the amount of raw data, while making it more applicable to the clinical application — drug discovery, genomic testing, whatever. “You need to engineer data analysis so that you don’t generate a genome in eight to 10 days and then take four to five months to analyze it,” she told C&EN.

The bottom line is that genome sequencing is well on its way to becoming a commodity, while the analysis has yet to make that leap. Drug companies and other biotech firms are catching on to this new dynamic and are beginning to rethink their approaches.

Full story at Chemical & Engineering News