The $1,000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine [Rilegato]

The dramatic ascension of genetics and our overall understanding of biology throughout the twentieth century had culminated with a dramatic and news-grabbing race to decode the entire human genome. This was a monumental achievement; especially since just a decade or two earlier even the most optimistic experts did not expect something like this to be accomplished for another hundred years or so. However, the remarkable improvements in the sequencing technologies and the computing tools, as well as the sudden realization by the entrepreneurs that genetics could be the new technological goldmine, all contributed to the rapid actualization of the dream that had been set in motion with the discovery of the DNA. The beginning of the twenty-first century was a time of great excitement and hope for the future of genomics and the ways it could impact medicine and lead to major improvements in our quality of life.

It has been more than a decade since those heady days of human genomics, and this seems like a good point in time to take a look and reflect on what has been accomplished since. However, it doesn't take a Ph.D. in biotechnology to conclude that in terms of therapeutic treatments, or even better understanding of many diseases, the actual impact of the decoding of the human genome has been minimal at best. It is quite possible that the main culprit for this state of affairs is the still prohibitive cost of mapping a single genome. This is an implicit premise of "The $1,000 Genome", and this book aims to explore many attempts to bring this cost down to the point where it becomes feasible to have your own genome decoded as a standard part of your medical screening. The book profiles many startups and semi-governmental efforts to improve the sequencing technology and make the personal genetic information more useful and applicable in the medical setting. However, the focus of the book is almost exclusively on the companies and the oversize egos who run them, and there is nary a word about the actual scientific/technical advances that have been developed over the course of the past ten years or so. It's like writing a book about the 1980s personal computer boom and not giving any insight into how those computers are made, what are their technical features, etc. Furthermore, there is very little critical assessment of the various companies and trends in personal genomics. This style of writing works fine for unbiased news articles, but is not the right kind of approach for an in-depth analysis of one of the most promising new technologies. Each chapter in the book is more or less unconnected to the other ones, and in this respect too this book reads like a collection of newspaper articles.

I really, really wanted to like this book. I am extremely fascinated with the new developments in biotechnology and personal medicine, and I have a strong appreciation for the industrial and entrepreneurial approaches in pushing the envelope of human knowledge. However, after reading "The $1,000 Genome" I failed to gain any overarching insight into where these developments may lead. This is a book with a lot of information on the genomics and biotech startups, but aside from the rapidly plummeting price tag of the sequencing of single human genome it offers very little to get excited about. This is unfortunate because I believe that we are on a verge of a radical change in the way that medical conditions are treated, and a good insightful book could have gone a long way in bringing the attention of the general public to this upcoming revolution.

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 this very readable book.

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.

This is a well-informed and very accessible account of the fast-moving developments that will change medical and pharmaceutical world very soon. Naturally, it will become dated very soon, so read it now.

I'm a biology illiterate excited by the prospects of genetic research and future genetic engineering. I was hoping that Davies' book would educate me in the basics, especially since his day job involves editing a periodical on the topic and he has a PhD in the subject. Unfortunately, Davies' book didn't do it. "The $1,000 Genome" focuses more on the key companies and leaders in the field, than explaining what's happening to neophytes. (Articles such as "The $100 Genome" in the 4/17/2008 "Technology Review" are more helpful.) As a result, the material jumps from one approach to another, and lacks a simple, structured approach. I also didn't appreciate Davies' wild numbers in some instances - eg. the U.S. spending $5 trillion on 4 million with Alzheimers.

Davies should also have devoted much more space to BGI (formerly Beijing Genomics Institute), which with its 126 new top-of-the-range sequencing machines added to an existing 31 will have supposedly more DNA-sequencing capacity than the entire U.S. Also important is what it is likely to accomplish, at least in the area of human intelligence, an area that it is focusing on. (2,000 Chinese children will have their genes sampled, and the results correlated with their test scores at school - the largest examination to date of the idea that differences between individuals' IQ scores are partly due to DNA differences.)

Nonetheless, it is impossible not to be impressed by the speed of improvement in the field - from taking 13 years and $2.7 billion to decade the first human genome , to 14 days and $1,500 by 2009. That's improvement by a factor of 10/year, far faster than even Moore's Law (doubling the number of transistors on a chip every 12-18 months). (The problem is, however, that given how Davies switches from sampling to partial DNA to entire DNA analysis, the reader is never certain whether these comparisons involve apples to apples.)

I also didn't appreciate the time Davies devoted to ethics and privacy concerns, vs. outcomes and methods.