Ten years after the announcement of the draft human genome, the world of human health seems in many ways unchanged. But it is changing, in many profound ways, says Francis Collins, who led the government-funded part of the genome project and is now the director of the National Institutes of Health.
Collin's new book, The Language of Life: DNA and the Revolution in Personalized Medicine, aims to help the public to understand the changes so far, and those that are still to come. He covers a wide range of topics, but the guiding theme is the promise of "personalized medicine" that tailors treatment for each individual based on their genetic information.
As he shows in his occasional columns in Parade magazine, Collins is a skilled communicator of complex medical topics, including their ethical and personal dimensions. He steers authoritatively but caringly through challenging topics like race-based medicine. On the pros and cons of genetic screening, for example, he describes the desirability of genetic tests as a product of not just the relative and absolute changes in risk associate with a gene, but the seriousness of the disease and the availability of effective intervention.
I confess that I was worried that Collins might let his well-publicized Christian beliefs color this book (his previous book is called The Language of God). They did not. His beliefs arise a few times, for example in the context of stem cell research, but he deals with serious ethical questions with great respect for different points of view. In addition, as should be expected for any modern biomedical researcher, he repeatedly and matter-of-factly draws important insights from evolution.
On the whole, the writing is accessible to general readers, even as Collins discusses complex scientific topics. On occasion, however, he shows an academic's tolerance for complex, caveat-filled verbiage, as when he writes, "Therefore, at the time of this writing, the effort to utilize genetic analysis to optimize the treatment of depression has not yet reached the point of effective implementation." This stilted language is the exception, but he also slips into occasional jargon that might leave some readers temporarily stranded.
A trickier issue is Collins' frequent use of patient anecdotes to illustrate how genetic information can lead to better decisions. These human stories, drawn from his long research and clinical experience, certainly succeed at Collins' goal of inspiring hope for the potential of personalized medicine, as well as showing clearly what it mean to people. But the succession of optimistic stories begins to seem skewed to draw attention away from structural challenges in American medicine that could seriously undermine this potential. When Collins mentions these issues, it tends to be in careful euphemisms: "A recent study estimated that in the United States each year, more than 2 million hospitalized patients suffer serious adverse drug reactions, with more than 100,000 of those resulting in a fatal outcome."
In a similar vein, Collins describes the successful identifications of gene variants associated with macular degeneration. The fact that similar studies for other diseases have been rather disappointing doesn't seem to bother him much. Perhaps his decades in research, including the identification of the cystic fibrosis gene, have made him confident that these problems too will pass. But he comes across as a very optimistic person.
In spite of my quibbles, I think The Language of Life succeeds well at putting the omnipresent news stories about genetic advances in a useful context of individual medical choices. As a writer who covers these areas of science, I didn't learn an awful lot of new things from the book, but I think most people will, and will enjoy themselves in the process.