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Making Sense of the Genomic Revolution

THE LANGUAGE OF LIFE: DNA and the Revolution in Personalized Medicine. Francis S. Collins. xxviii + 332 pp. HarperCollins, 2010. $26.99.

THE $1,000 GENOME: The Revolution in DNA Sequencing and the New Era of Personalized Medicine. Kevin Davies. x + 340 pp. Free Press, 2010. $26.

HERE IS A HUMAN BEING: At the Dawn of Personal Genomics. Misha Angrist. x + 341 pp. Harper, 2010. $26.99.

For more than a decade, the public has been primed to expect an imminent revolution in genomics that would be the key to overhauling a broken medical system. Indeed, the promise of personal genomics is tantalizing: It could improve individual health by providing personalized risk information about diseases such as cancer, diabetes, heart disease and obesity, and about how individuals metabolize drugs, whether they are carriers for certain diseases and even what personality traits they are likely to have. This promise suggests a different landscape for health care, one in which individuals would actively participate in understanding and shaping their personalized health profiles. Equipped with their personal genomes, patients could choose healthier lifestyles and thereby achieve better health outcomes. Still, the promise of personalized medicine must be weighed against the challenges posed by the technological, financial, ethical and cultural limitations to which it is subject.

Three recent books—The Language of Life: DNA and the Revolution in Personalized Medicine, by Francis Collins, The $1000 Genome: The Revolution in DNA Sequencing and the New Era of Personalized Medicine, by Kevin Davies, and Here is a Human Being: At the Dawn of Personal Genomics, by Misha Angrist—provide accounts of the developments in personal genomics. Each of these authors offers unique insights into the possible benefits and costs of genomics research and its use in personalized medicine. The books also provide glimpses into how genomics may reshape our ideas about what constitutes health and well-being.

Collins, former director of the Human Genome Project at the National Human Genome Research Institute and current director of the National Institutes of Health, stands at the forefront of the genomic revolution he describes in The Language of Life. His compelling and accessible account details the potential of genomics to transform health decision making for individuals, predict disease risk, improve prenatal and postnatal health care, and expand our understanding of the vast microbiome with which we coexist. Collins recognizes that two obstacles facing personalized medicine are the absence of an adequate infrastructure and the lack of educational opportunities that support the translation of discoveries at the bench into useful applications at the bedside. Acknowledging that clinical use of genome information is still in its nascency, he emphasizes that we must continue to invest in research, computerize medical record keeping, make appropriate policies, educate communities, and consider the ethical responsibilities confronting researchers and medical professionals in the face of changing technology.

Collins suggests that the key to realizing the potential of genomics is the active involvement of stakeholders, including scientists, doctors, policy makers and individuals. To this end he offers his book as a guide. For example, he urges that people consider three factors in deciding whether or not they want to know about their risk for a given illness—the baseline risk for the disease, the disease burden and the interventions available—and he emphasizes the importance of seeking knowledge that will equip them to make better decisions about prevention. In addition, at the end of each chapter he lists resources and activities that give readers the chance to “join the personalized medicine revolution.” Collins writes that it’s not enough to follow the progress of the revolution; we must “skate where the puck is going to be.” The message is that individuals must assume an active role in harnessing and even shaping the potential of genetic medicine. However, it is unclear how early discoveries will translate into meaningful differences and whether our current infrastructure will support the incorporation of genomic data.

The price of having one’s genome sequenced has been dropping rapidly. The first genome sequenced by the Human Genome Project cost an estimated $3 billion and took 13 years to accomplish, but by 2009 the task could be completed in less than two weeks at a cost of $1,500. It has long been asserted that the $1,000 genome would be the gateway to a revolution in health care, allowing a new medical and scientific reality to be realized. Critically acclaimed science writer Kevin Davies has a long track record of reporting on human genome sequencing; his new book, The $1,000 Genome, offers an intimate history of the technology and people behind these developments. Davies introduces readers to the key actors who have led the way in the major developments in genetic technology, revealing the unabashed optimism of the scientists and entrepreneurs who are trying to bring genomic sequencing ever more quickly and cheaply to the public.

Davies describes the new obstacles that are arising as the industry approaches the $1,000 threshold. Scientists must now look beyond sequencing technology and financial considerations, and consider the wide gap between the abundance of the newly available data and the paucity of knowledge about how to interpret it. Limitations of the technology—mainly how little is yet known about how to successfully translate genetic information into generalizable and reliable clinical information—pose significant barriers to the achievement of the promise of personal genomics. In addition, social and ethical issues, such as the specter of eugenics and risks for breaches of privacy and racial stigmatization to occur, have yet to be addressed. A reliable framework for guiding the successful application of genetics in research and clinical medicine is needed. Davies provides a historical account, from insiders’ perspectives, of the evolution of genetic sequencing technology and the challenges that has entailed, painting a detailed picture of what we as a society must consider as we draw closer to the $1,000 threshold. He also devotes a chapter to his own experiences being tested by several consumer genomics companies that predict genetic risk, further illustrating both the triumphs and challenges he describes.

In Here is a Human Being, geneticist Misha Angrist describes his experience as the fourth person to undergo whole-genome sequencing in the Personal Genome Project. He reflects on his personal genomic journey from several perspectives—as a scientist, husband, father, son and ethicist. In this honest and deeply personal book, Angrist describes his struggles over decisions about public disclosure and privacy concerns, as well as the difficulty of making sense of the deluge of data that awaited him on the other side of the sequencer.

The Personal Genome Project offers its members whole-genome sequencing free of charge, but participants must agree to allow all of their personal information, including phenotypic characteristics, to be posted online as a demonstration of the future of medical health profiles. Angrist recalls a friend asking him, “Why in God’s name would you want to do that?” In describing his participation, Angrist echoes the optimistic hopes for genomic personalized medicine expressed in the other two books under review. Yet what makes Angrist’s account uniquely valuable is the degree to which it tempers the promissory language of the genomic revolution with the complexity of lived experience. “With the click of a mouse,” he writes, “I had gone from an ordinary neurotic/depressive who didn’t believe in genetic determinism to a quivering mess who ‘knew’ himself to be a ticking time bomb.” Angrist’s reaction provides insight into the journey facing every individual confronting such a broad spectrum of “risk information.” He describes his family history of breast cancer and his worries about how his two young daughters might be affected by the public disclosure of his genome. He elucidates some of the dilemmas that will face not only patients, but also the health-care providers from whom they will seek assistance in making decisions about applying genetic information. The price tag for genome sequencing, Angrist writes, is no longer the relevant obstacle to personalized medicine; instead, interpreting what is meaningful in the vast amount of data a single human genome provides has become the ultimate challenge.

Whether recent developments in genomics fuel a revolution in personalized medicine will depend not only on scientific discoveries, but on the successful integration of genomic information into the health care system. These three books encapsulate a key moment in the development of genomic medicine, a point at which individuals, scientists, researchers and policy makers have the opportunity to shape the path forward. Understanding both the possibilities and the obstacles that these books describe will be critical in determining whether hope for a genomic future translates into more effective health care and better outcomes.

Simone Vernez is the project manager for a study of social networking and personal genomics at the Stanford Center for Biomedical Ethics. Sandra Soo-Jin Lee, who is the principal investigator for that project, is a senior research scholar at the Stanford Center for Biomedical Ethics. She is currently at work on a book titled American DNA: Race, Justice and the New Genetic Sciences.

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