快猫短视频

IN PUBLISHING, timing is king. So it鈥檚 a shame for Francis Collins that his new guide to 鈥渢he revolution in personalized medicine鈥� hits shelves just as the uprising seems to be fizzling out.

Collins wrote the book after having his own DNA scanned by three companies that launched competing 鈥減ersonal genome鈥� services just a couple of years ago. But many early adopters 鈥� myself included 鈥� have been underwhelmed by the insights gained through such services, given the current state of genetic knowledge. And in an economic slump, a product costing between $400 and $2500 is a luxury that has proved easy for others to resist. In November, DeCode Genetics of Reykjavik, Iceland, filed for bankruptcy; even 23andMe, which is based in Mountain View, California, and backed by the deep pockets of Google, has been .

His timing may be unfortunate, but Collins is a highly knowledgeable guide to an emerging area of medicine that, in the lab at least, is still progressing with revolutionary fervour. Collins made his name as a formidable hunter of disease genes 鈥� including the first mutation tied to cystic fibrosis 鈥� before leading the US arm of the Human Genome Project in its race to sequence our entire DNA code. Now he is of the US National Institutes of Health, where we can expect him to focus the resources of this biomedical powerhouse on turning that raw sequence into medically usable information.

As an introduction to the science that could one day deliver routine personalised medicine, this is an excellent book. Collins gives an impressively up-to-date treatment of the genetics of cancer, race, infectious disease, ageing, the brain and our varying responses to drugs. The narrative is strongest when he frames the issues through real stories of individual patients.

But Collins also wants to provide a contemporary 鈥渦ser鈥檚 guide鈥�, concluding each chapter with a section entitled: 鈥淲hat you can do now to join the personalized medicine revolution.鈥� Again, it鈥檚 hard not to question his timing. He offers sage advice on drawing up a family health history, and getting screened for early signs of conditions to which you are prone. But there is little on how to interpret genetic tests, and some comments smack of desperation. 鈥淧ersonalizing your approach to avoiding infectious diseases includes knowing and practicing the principles of safe sex,鈥� Collins tells us, leaving readers to wonder where the personalisation of this ubiquitous message comes in.

I see Collins as a cheerleader for a revolution that hasn鈥檛 arrived quite yet, and I fear that his enthusiasm has blinded him to some potential pitfalls. In his concluding chapter, Collins presents two visions of the future: one in which members of a nuclear family live to a contented old age thanks to personalised medicine and one in which they are condemned to early graves through obesity and ignorance. His prescription for avoiding the latter involves generous investment in research, the widespread adoption of electronic medical records and the reform of policies that slow the implementation of promising medical discoveries.

Lobbyists for pharmaceutical and medical device companies make exactly the same point about stifled innovation, ignoring evidence that the crippling inflation in US healthcare costs is largely driven by the relentless adoption of medical technologies that frequently don鈥檛 improve health outcomes. Collins does mention the need to refocus health services onto prevention, rather than remedial care. But from someone in his position, I鈥檇 have hoped for a clearer vision of how to prevent his revolution being betrayed by the US healthcare system鈥檚 uncanny ability to turn new medical technologies into vortexes that suck in cash but achieve little else.

鈥淭he US healthcare system has the uncanny ability to turn new medical tech into a vortex that sucks in cash鈥�