The Language of Life: DNA and the Revolution in Personalized Medicine

  • Francis S. Collins
Harper/Profile: 2010. 368 pp/288 pp. $26.99/£15 0061733172 | ISBN: 0-061-73317-2

We have entered the era of rapid, inexpensive genetic testing and genome sequencing. In the next decade, the cost of sequencing the full human genome will drop to a few hundred dollars, vastly less than the US$3 billion that was invested in the 13-year Human Genome Project. But what should we do with all the knowledge that will be gained?

Francis Collins argues that each individual's genome is a 'personal textbook' of life-saving possibilities. Credit: M. BARTLETT/NHGRI

Francis Collins, the new director of the US National Institutes of Health (NIH), has little doubt: embrace a revolution in personalized medicine. Collins was the public face of the Human Genome Project. He stepped down in 2008 after 15 years as director of the US National Human Genome Research Institute (NHGRI) to write a book on personalized medicine for the public. His excellent treatise empowers readers to understand the revolution, make use of it and push for policy change.

The Language of Life is timely, current and full of moving stories: of the despair and hopes of his family, friends, colleagues and patients touched by developments in genomics research. Although it may come across as breathlessly optimistic at times, that doesn't diminish the joy of reading it. Collins argues convincingly that your DNA can become “your personal textbook” that “could literally save your life”.

There is a lot of science in the book — why we are all flawed mutants, the genetic basis of cancer and how sirtuin proteins might influence ageing. He explains the roles of the genomes of trillions of microbes in and on our bodies (the microbiome), and the importance of the international HapMap project to unleash the power of genome-wide association studies. Insights from genomics research have uncovered fascinating molecular mechanisms of diseases such as chronic myeloid leukaemia, leading to rational drug designs.

Collins's writing is so deceptively lucid that you hardly realize you are receiving a serious education. The book's brave chapter on genetics and race is the best summary of this complex and emotive subject that I have read. There is humour too, as in learning that James Watson intentionally appeared before the US Congress as a dishevelled professor, with unkempt hair and untied shoelaces, to seek funding for the Human Genome Project.

One area that Collins might have emphasized more is genomics and global health. Writing in 2003 (see Nature 422, 835–847; 2003), he envisioned the future of genomics research as a house — but who will live there? Just the 700 million or so wealthy people in North America and Western Europe? Is there room for the 90% of humanity that lives in developing countries?

Collins is clearly aware of, and passionate about, global health inequities. He contracted tuberculosis as a medical intern in North Carolina and malaria as a missionary physician 20 years ago in Nigeria. As the director of the NIH, he has made it a priority to expand research into diseases that affect the developing world. The book might have highlighted more the identification of vaccine and therapeutic targets from the genomes of organisms that cause deadly diseases, or the development of vaccines through manipulating the genomes of parasites such as those that cause malaria. Other genomics challenges include engineering the human immune system to fight HIV and creating handheld point-of-care diagnostics.

Although The Language of Life isn't centred on him, a reader will learn a lot about Collins: the humane physician and scientist, the wise and passionate advocate of rationality and common sense, the detective who was involved in discovering the genes and mutations involved in breast and ovarian cancer, cystic fibrosis, progeria, neurofibromatosis and Huntington's disease. At the NHGRI he prioritized ethics. He pushed to release raw sequence data from the Human Genome Project daily over the Internet as a global public good, and helped to pass the Genetic Information Nondiscrimination Act of 2008. As the NIH director, Collins is a worthy successor to Harold Varmus and Elias Zerhouni. But at an agency that encompasses 27 institutes and centres, 18,000 employees and a $30-billion budget, Collins will have to be careful to balance genomics with other priorities.

Having undergone genetic testing himself, Collins divulges in the book his own disease predispositions as well as those of his family members. The susceptibilities of fellow geneticist Craig Venter, whose genome sequence has been published, are also mentioned. So is that of the co-founder of Google, Sergey Brin, who, as a client of the direct-to-consumer genetic-testing service 23andMe — co-founded by Brin's wife Anne Wojcicki — discovered that he has a higher-than-average probability of getting Parkinson's disease. Collins supports the availability of such tests, although he lists a dozen things to consider before taking one.

Such public announcements raise questions about privacy and confidentiality. Referring to digital technologies, Scott McNealy, chief executive of Sun Microsystems, once remarked, “Privacy is dead. Get over it.” Could the same be said of genomics and genetic testing? We may soon be able to identify the owner of an anonymized DNA sample from little more than their genomic data. With the increasing power and plummeting cost of sequencing technologies, analysis, computers and data storage, the loss of privacy seems inevitable. We must rethink the ground rules.

Collins quotes former ice-hockey player Wayne Gretzky, whose father advised him to “Skate where the puck is going to be.” The Language of Life tells you where the personal-genomics puck is headed.