the $1000 genome

Back in 2000, when the draft sequence of “the” human genome was announced, hopes were high that a genetic understanding of common diseases would soon follow. This anticipated revolution in genomic medicine hasn’t happened yet. However, a very different kind of revolution has happened, namely the development of fundamentally new and much more efficient methods to sequence huge amounts of DNA. As a consequence, the cost of sequencing a human genome has fallen faster than that of computer hardware. In order-of-magnitude terms, the first human genome (2000) cost around $ 1 billion, James Watson’s (2007) $ 1 million, and this year many individual human genomes will be sequenced for not much more than $1000 per head.

This very real genome revolution has been underreported in the general media. Worse, it hasn’t yet influenced the thinking of many medical professionals, even though it is bound to change the ways in which they will be able to prevent and treat disease. Kevin Davies, who has followed these developments closely as the editor of the magazine BioIT World and has interviewed many of the main protagonists over the years, now aims to popularise the new genome revolution in his book, The $1000 genome (Free Press 2010).

Along with the progress in sequencing technology and personal genomes, Davies also covers the work of direct-to-consumer companies such as 23 and me, and also reports his own experience gained with these services. It emerges, however, that these companies are already at risk of becoming obsolete if they keep looking for simple answers from single base mutations (single nucleotide polymorphisms, or SNPs) although the large-scale view of the complexity of entire genomes is becoming more and more important.

I wrote a long essay review about all this, which is out today in Chemistry & Industry, issue 4, pages 27-28. It appears to be freely accessible as full length html version here.