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In the final pages of his new book about personalized medicine, Francis Collins offers a compelling vision of the future via a fictional character named Hope, born on January 1, 2000. Collins describes a world where Hope and most other people have had the entirety of their DNA sequenced and integrated with predictive models that make suggestions about diet, lifestyle, and treatments to optimize their health. The result for Hope is a healthy and productive life beyond age 100.

Collins then depicts an alternative world for Hope that looks similar to our own, where a dysfunctional health-care system hasn’t yet integrated personalized medicine. In this dystopia, doctors haven’t been trained in genomics, and payers won’t fund predictive and preventive tests and protocols. Hope, who has a genetic predisposition for heart attack, drops dead while gardening at age 50.

Despite the corny name “Hope,” these pages are the best part of Language of Life: DNA and the Revolution in Personalized Medicine­–along with quick summaries of the promise of stem cell therapies and gene therapies, also included in the final chapter: “A Vision of the Future.”

For me, the rest of the book was less insightful than I had hoped. Collins–a chief architect of the Human Genome Project and now director of the National Institutes of Health–offers a thorough description of current-day genomics. With an easygoing style he describes how genetics is beginning to infiltrate clinical medicine, most significantly for rare diseases caused by extreme glitches in a person’s DNA, such as Tay-Sachs, Down syndrome, and the like.

He writes chapters on how genetics is providing clues for people about whether or not they will experience side effects if they take a drug, and how genetic differences among people are shedding light on common diseases such as diabetes.

This is a useful update on dozens of other books and popular articles about genomics written over the last several years. However, with the exception of those final pages, it neglects to explain why the revolution in personalized medicine presented in “option one” of Hope’s possible futures is taking so long. This leads me to three complaints that I have with Collins’s book.

The first is that The Language of Life shares the tendency of most popular books and media to be overly gung ho about a genomic revolution that for years has been long on promise and short on reality. This lack of success has not come from want of trying. As Collins notes, scientists have made great advances in understanding genomics and molecular biology, while companies have worked hard to translate the wealth of information being generated about our DNA into tests and treatments that will be useful to patients.

Pharmaceutical companies are using molecular biology to design more targeted drugs, and the likes of 23andme and Navigenics are selling genetic testing services online, directly to consumers.

Collins mentions that developing so-called “rational” drugs (based on knowledge of molecular interactions instead of trial and error) has been challenging, and that proffering DNA tests online for diabetes, heart disease, and schizophrenia has been controversial. But he barely mentions that the U.S. Food and Drug Administration has approved only a handful of drugs in the personalized medicine space, or that direct-to-consumer testing has failed to attract many customers.

The latter situation became clear last fall when 23andme cofounder Anne Wojcicki announced at the TED MED meeting in San Diego that her company had sequenced the DNA of only 30,000 people in two years–despite overwhelming publicity that included being named Time magazine’s 2008 Invention of the Year.

This tepid public response might be explained by the still-high cost for genetic testing–which is getting less expensive–or by the fact that these tests have yet to be fully validated as accurate predictors of risk factors for disease. It also may have to do with a public that has yet to see or understand the relevance of DNA testing beyond rare genetic disorders and CSI-style forensics.

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Credit: Harper Collins Publishers

Tagged: Biomedicine, DNA, sequencing, personalized medicine, health, biology, DNA sequenced, Francis Collins

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