Rapid advances in high-throughput genome sequencing technologies foreshadow a near-future in which millions of individuals will gain affordable access to their complete genome sequence. This promises to give unprecedented insights into the fundamental biological nature of ourselves and our species: where we came from, how we are born, how we interact with our environment, how we get sick, how we get well, and how we age. Personal genomics is therefore an important component of the inevitable transition towards personalized medicine, as the medical establishment begins to explore and evaluate the role of personal genomics in health and medicine. However there is currently very little training available for medical practitioners. Exploring Personal Genomics provides a novel, inquiry-based approach to understanding and interpreting the practical, medical, and societal aspects of personal genomic information. It is presented in two parts: the first provides readers of all backgrounds with a fundamental understanding of the biology of human genomes, information on how to obtain and understand digital representations of personal genomic data, tools and techniques for exploring the personal genomics of ancestry and genealogy, discovery and interpretation of genetic trait associations, and the role of personal genomics in drug response. The second part offers more advanced readers an understanding of the science, tools, and techniques for investigating interactions between a personal genome and the environment, connecting DNA to physiology, assessing rare variants and structural variation, and exploring resources for performing personal biological investigation. This advanced textbook is primarily aimed at undergraduate and graduate students taking classes in genomic medicine, genetics, and bioinformatics. It will also be of relevance and use to medical practitioners, evolutionary biologists, geneticists and individuals interested in exploring their personal genetic data.

In 2001 the Human Genome Project succeeded in mapping the DNA of humans. This landmark accomplishment launched the field of genomics, the integrated study of all the genes in the human body and the related biomedical interventions that can be tailored to benefit a person's health. Today genomics, part of a larger movement toward personalized medicine, is poised to revolutionize health care. By cross-referencing an individual's genetic sequence -- their genome -- against known elements of "Big Data," elements of genomics are already being incorporated on a widespread basis, including prenatal disease screening and targeted cancer treatments. With more innovations soon to arrive at the bedside, the promise of the genomics revolution is limitless. This entry in the What Everyone Needs to Know series offers an authoritative resource on the prospects and realities of genomics and personalized medicine. As this science continues to alter traditional medical paradigms, consumers are faced with additional options and more complicated decisions regarding their health care. This book provides the essential information everyone needs.

Internationally acclaimed science writer Lone Frank swabs up her DNA to provide the first truly intimate account of the new science of consumer-led genomics. She challenges the business mavericks intent on mapping every baby's genome, ponders the consequences of biological fortune-telling, and prods the psychologists who hope to uncover just how much or how little our environment will matter in the new genetic century - a quest made all the more gripping as Frank considers her family's and her own struggles with depression.

Derived from the comprehensive two-volume set, Genomic and Personalized Medicine also edited by Drs. Willard and Ginsburg, this work serves the needs of the evolving population of scientists, researchers, practitioners and students that are embracing one of the most promising avenues for advances in diagnosis, prevention and treatment of human disease. From principles, methodology and translational approaches to genome discoveries and clinical applications, Essentials of Genomic and Personalized Medicine will be a valuable resource for various professionals and students across medical disciplines, including human genetics and genomics, oncology, neuroscience, gene therapy, molecular medicine, pharmacology, and biomedical sciences. Updates with regard to diagnostic testing, pharmacogenetics, predicting disease susceptibility, and other important research components as well as chapters dedicated to cardiovascular disease, oncology, inflammatory disease, metabolic disease, neuropsychiatric disease, and infectious disease, present this book as an essential tool for a variety of professionals and students who are endeavouring into the developing the diverse and practical field of genomic and personalized medicine. - Full color throughout - Includes contributions on genetic counselling, ethical, legal/regulatory, and social issues related to the practice of genomic medicine from leaders in the field - Introductory chapter highlights differences between personalized and traditional medicine, promising areas of current research, and challenges to incorporate the latest research discoveries and practic - Ancillary material includes case studies and lab questions which highlight the collaborative approach to the science

The #1 NEW YORK TIMES Bestseller The basis for the PBS Ken Burns Documentary The Gene: An Intimate History Now includes an excerpt from Siddhartha Mukherjee’s new book Song of the Cell! From the Pulitzer Prize–winning author of The Emperor of All Maladies—a fascinating history of the gene and “a magisterial account of how human minds have laboriously, ingeniously picked apart what makes us tick” (Elle). “Sid Mukherjee has the uncanny ability to bring together science, history, and the future in a way that is understandable and riveting, guiding us through both time and the mystery of life itself.” —Ken Burns “Dr. Siddhartha Mukherjee dazzled readers with his Pulitzer Prize-winning The Emperor of All Maladies in 2010. That achievement was evidently just a warm-up for his virtuoso performance in The Gene: An Intimate History, in which he braids science, history, and memoir into an epic with all the range and biblical thunder of Paradise Lost” (The New York Times). In this biography Mukherjee brings to life the quest to understand human heredity and its surprising influence on our lives, personalities, identities, fates, and choices. “Mukherjee expresses abstract intellectual ideas through emotional stories…[and] swaddles his medical rigor with rhapsodic tenderness, surprising vulnerability, and occasional flashes of pure poetry” (The Washington Post). Throughout, the story of Mukherjee’s own family—with its tragic and bewildering history of mental illness—reminds us of the questions that hang over our ability to translate the science of genetics from the laboratory to the real world. In riveting and dramatic prose, he describes the centuries of research and experimentation—from Aristotle and Pythagoras to Mendel and Darwin, from Boveri and Morgan to Crick, Watson and Franklin, all the way through the revolutionary twenty-first century innovators who mapped the human genome. “A fascinating and often sobering history of how humans came to understand the roles of genes in making us who we are—and what our manipulation of those genes might mean for our future” (Milwaukee Journal-Sentinel), The Gene is the revelatory and magisterial history of a scientific idea coming to life, the most crucial science of our time, intimately explained by a master. “The Gene is a book we all should read” (USA TODAY).

Personalized Psychiatry presents the first book to explore this novel field of biological psychiatry that covers both basic science research and its translational applications. The book conceptualizes personalized psychiatry and provides state-of-the-art knowledge on biological and neuroscience methodologies, all while integrating clinical phenomenology relevant to personalized psychiatry and discussing important principles and potential models. It is essential reading for advanced students and neuroscience and psychiatry researchers who are investigating the prevention and treatment of mental disorders. - Combines neurobiology with basic science methodologies in genomics, epigenomics and transcriptomics - Demonstrates how the statistical modeling of interacting biological and clinical information could transform the future of psychiatry - Addresses fundamental questions and requirements for personalized psychiatry from a basic research and translational perspective

In 2001, scientists were finally able to determine the full human genome sequence, and with the discovery began a genomic voyage back in time. Since then, we have sequenced the full genomes of a number of mankind's primate relatives at a remarkable rate. The genomes of the common chimpanzee (2005) and bonobo (2012), orangutan (2011), gorilla (2012), and macaque monkey (2007) have already been identified, and the determination of other primate genomes is well underway. Researchers are beginning to unravel our full genomic history, comparing it with closely related species to answer age-old questions about how and when we evolved. For the first time, we are finding our own ancestors in our genome and are thereby gleaning new information about our evolutionary past. In Ancestors in Our Genome, molecular anthropologist Eugene E. Harris presents us with a complete and up-to-date account of the evolution of the human genome and our species. Written from the perspective of population genetics, and in simple terms, the book traces human origins back to their source among our earliest human ancestors, and explains many of the most intriguing questions that genome scientists are currently working to answer. For example, what does the high level of discordance among the gene trees of humans and the African great apes tell us about our respective separations from our common ancestor? Was our separation from the apes fast or slow, and when and why did it occur? Where, when, and how did our modern species evolve? How do we search across genomes to find the genomic underpinnings of our large and complex brains and language abilities? How can we find the genomic bases for life at high altitudes, for lactose tolerance, resistance to disease, and for our different skin pigmentations? How and when did we interbreed with Neandertals and the recently discovered ancient Denisovans of Asia? Harris draws upon extensive experience researching primate evolution in order to deliver a lively and thorough history of human evolution. Ancestors in Our Genome is the most complete discussion of our current understanding of the human genome available.

In this essential guide to the brave new future, Dr. Kevin Davies, author of Cracking the Genome, reveals the masterful ingenuity that transformed the process of decoding DNA and vividly brings the extraordinary drama of the grand scientific achievement to life. In 2000, President Bill Clinton signaled the completion of the Human Genome Project at a cost in excess of $2 billion. A decade later, the price for any of us to order our own personal genome sequence—a comprehensive map of the 3 billion letters in our DNA—had already dropped to just $1,000. Dozens of men and women—scientists, entrepreneurs, celebrities, and patients—have already been sequenced, pioneering a bold new era of personalized genomic medicine. The $1,000 genome has long been considered the tipping point that would open the floodgates to this revolution. How has this astonishing achievement been accomplished? To research the story of this unfolding revolution, critically acclaimed science writer Kevin Davies traveled to the leading centers and interviewed the entrepreneurs and pioneers in the race to achieve the $1,000 genome. Davies also profiles the future of genomic medicine and thoughtfully explores the many pressing issues raised by the tidal wave of personal genetic information.

Significant advances in our knowledge of genetics were made during the twentieth century but in the most recent decades, genetic research has dramatically increased its impact throughout society. Genetic issues are now playing a large role in health and public policy, and new knowledge in this field will continue to have significant implications for individuals and society. Written for the non-majors human genetics course, Human Genetics, Third Edition will increase the genetics knowledge of students who are learning about human genetics for the first time. This thorough revision of the best-selling Human Genome, Second Edition includes entirely new chapters on forensics, stem cell biology, bioinformatics, and societal/ethical issues associated with the field. New special features boxes make connections between human genetics and human health and disease. Carefully crafted pedagogy includes chapter-opening case studies that set the stage for each chapter; concept statements interspersed throughout the chapter that keep first-time students focused on key concepts; and end-of-chapter questions and critical thinking activities. This new edition will contribute to creating a genetically literate student population that understands basic biological research, understands elements of the personal and health implications of genetics, and participates effectively in public policy issues involving genetic information. - Includes topical material on forensics, disease studies, and the human genome project to engage non-specialist students - Full, 4-color illustration program enhances and reinforces key concepts and themes - Uniform organization of chapters includes interest boxes that focus on human health and disease, chapter-opening case studies, and concept statements to engage non-specialist readers

Clinical Genome Sequencing: Psychological Aspects thoroughly details key psychological factors to consider while implementing genome sequencing in clinical practice, taking into account the subtleties of genetic risk assessment, patient consent and best practices for sharing genomic findings. Chapter contributions from leading international researchers and practitioners cover topics ranging from the current state of genomic testing, to patient consent, patient responses to sequencing data, common uncertainties, direct-to-consumer genomics, the role of genome sequencing in precision medicine, genetic counseling and genome sequencing, genome sequencing in pediatrics, genome sequencing in prenatal testing, and ethical issues in genome sequencing. Applied clinical case studies support concept illustration, making this an invaluable, practical reference for this important and multifaceted topic area within genomic medicine.