Genomics: From Birth to Big Business
CRACKING THE GENOME
Inside the Race To Unlock Human DNA
By Kevin Davies
The Free Press 310pp $25
The 300 residents of Tristan da Cunha, a tiny volcanic island in the South Atlantic 1,700 miles west of Capetown, feared losing everything when lava threatened to bury their homes in 1961. They were evacuated, and for two years they lived in England, where doctors found that half suffered from asthma--the highest incidence of the disease anywhere in the world. One of the island's early settlers had apparently been genetically susceptible to it, and the trait had spread through the isolated population.
There the story rested, until the early 1990s, when a University of Toronto researcher named Noe Zamel realized that the islanders might hold the key to understanding the genetics of asthma. Zamel knew about Tristan da Cunha because he had been a resident at a London hospital when the Tristanians were in England. At the time, geneticists had no way to search for the gene or genes underlying the susceptibility--but by the 1990s, they did. In 1993 and again in 1996, Zamel went to the island to examine the islanders and collect blood samples for DNA analysis. On the second visit, he was accompanied by a scientist from Sequana Therapeutics (now part of Axys Pharmaceuticals of South San Francisco), which put up $10 million to pinpoint the genetic source of the asthma. The hope was that the genetic information could lead to a new and potentially lucrative drug. The DNA of a few hundred people in one of the world's most remote outposts had become one of the "treasures of the lost worlds," as Kevin Davies describes it in Cracking the Genome.
"It was a huge gamble," Davies writes. "Could the gene that caused asthma on a desolate island near Antarctica possibly have relevance for the millions of asthma sufferers around the world?"
The tale of the Tristanians is one of many good little stories in this quick journalistic history of contemporary genomics--the study of the genetic underpinnings of disease. Davies has done a nice job of assembling these stories and delivering them in clear language that neatly demystifies many scientific complexities. As the founding editor of the journal Nature Genetics, Davies is acquainted with many of the researchers he writes about, and he was at many of the scientific meetings at which they made their most important announcements. Investors and others looking for a quick primer on the science and business of biotechnology will find a useful guide in Cracking the Genome. Those interested in an assessment of these developments will be disappointed, however. Davies, who would seem particularly qualified to provide a thoughtful analysis of the science of genomics and the biotech industry, does not do so.
The title of the book is misleading: Cracking the Genome is about more than simply the race to sequence the human genome, which ended last June in a tie between the government-sponsored Human Genome Project and the private effort of Celera Genomics. The book recaps the past 20 years in genomics, beginning when researchers first learned to search for and find specific genetic mutations underlying diseases.
Davies starts with a quick reminder of the significance of the discovery of DNA's double helix in 1953, and then he jumps ahead to the 1980s, when researchers found the genes for Huntington's disease, muscular dystrophy, cystic fibrosis, and other diseases--among the earliest triumphs of genomics.
He recalls the story of the bitter contest to find the breast-cancer gene now called BRCA1. Mary-Claire King, the geneticist at the University of California at Berkeley who made the preliminary discovery that set the race in motion, ultimately "lost" a furious competition to Myriad Genetics of Salt Lake City. It was a severe disappointment for King. At a scientific meeting shortly after Myriad's discovery, she reminded her colleagues that winning the race was less important than putting the discovery of the gene to use. "In the 20 years we have been working on this project, more than a million women have died of breast cancer," King said. "We very much hope that something we do in the next 20 years will preclude another million women dying of the disease."
Davies also revisits the attempt by the National Institutes of Health in the early 1990s to patent genes that had been identified but about which nothing was known. The move provoked outrage among critics who charged that the NIH was trying to lock up access to genes before others had a chance to work on them. The NIH said it was merely engaging in a preemptive effort to make sure no one else tried to assert control over the genes. Davies accurately reports the debate, but he stops short of helping us know what to think about it. In hindsight, who was right, the NIH or its critics? Davies doesn't say, making Cracking the Genome a less important book than it might have been.
In May, 1997, Davies reports, Sequana Therapeutics announced that it had found the genes responsible for asthma in the Tristanian population. Indications are that the genes might be responsible for many cases of the disease worldwide. Sequana's gamble seems to be paying off. And the consequences of the breakthroughs in genetics described in Cracking the Genome are reaching around the world--even to the remote potato fields of Tristan da Cunha.By Paul Raeburn; Senior Writer Raeburn Covers Science and the Environment.Return to top