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.

Here is a Human Being delivers the first in-depth look at the Personal Genome Project—the effort to construct complete genomic maps of a specific human beings—written by one of the study’s ten human participants. Misha Angrist recounts the project’s fascinating nuances, including the larger-than-life personalities of the research subjects, the entrepreneurial scientists at the helm, the bewildered and overwhelmed physicians and regulators who negotiated for it, the fascinating technology it employed, and the political, social, ethical and familial issues it continues to raise. In the vein of James Shreeve’s The Genome War, Craig J. Ventner’s My Life Decoded, and Francis J. Collins’ The Language of Life, Angrist’s informed exploration of this cutting-edge science is a gripping look at the present and future of genomics.

Consumer genomics, encompassing both direct-to-consumer applications (i.e., genetic testing that is accessed by a consumer directly from a commercial company apart from a health care provider) and consumer-driven genetic testing (i.e., genetic testing ordered by a health care provider in response to an informed patient request), has evolved considerably over the past decade, moving from more personal utility-focused applications outside of traditional health care to interfacing with clinical care in nontraditional ways. As consumer genomics has increasingly intersected with clinical applications, discussions have arisen around the need to demonstrate clinical and analytical validity and clinical utility due to the potential for misinterpretation by consumers. Clinical readiness and interest for this information have presented educational and training challenges for providers. At the same time, consumer genomics has emerged as a potentially innovative mechanism for thinking about health literacy and engaging participants in their health and health care. To explore the current landscape of consumer genomics and the implications for how genetic test information is used or may be used in research and clinical care, the Roundtable on Genomics and Precision Health of the National Academies of Sciences, Engineering, and Medicine hosted a public workshop on October 29, 2019, in Washington, DC. Discussions included such topics as the diversity of participant populations, the impact of consumer genomics on health literacy and engagement, knowledge gaps related to the use of consumer genomics in clinical care, and regulatory and health policy issues such as data privacy and security. A broad array of stakeholders took part in the workshop, including genomics and consumer genomics experts, epidemiologists, health disparities researchers, clinicians, users of consumer genomics research applications, representatives from patient advocacy groups, payers, bioethicists, regulators, and policy makers. This publication summarizes the presentations and discussion of the workshop.

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.

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).

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.

The DNA sequence that comprises the human genome--the genetic blueprint found in each of our cells--is undoubtedly the greatest code ever to be broken. Completed at the dawn of a new millennium, the feat electrified both the scientific community and the general public with its tantalizing promise of new and better treatments for countless diseases, including Alzheimer's, cancer, diabetes, and Parkinson's. Yet what is arguably the most important discovery of our time has also opened a Pandora's box of questions about who we are as humans and how the unique information stored in our genomes can and might be used, making it all the more important for everyone to understand the new science of genomics. In the CURIOSITY GUIDE TO THE HUMAN GENOME, Dr. John Quackenbush, a renowned scientist and professor, conducts a fascinating tour of the history and science behind the Human Genome Project and the technologies that are revolutionizing the practice of medicine today. With a clear and engaging narrative style, he demystifies the fundamental principles of genetics and molecular biology, including the astounding ways in which genes function, alone or together with other genes and the environment, to either sustain life or trigger disease. In addition, Dr. Quackenbush goes beyond medicine to examine how DNA-sequencing technology is changing how we think of ourselves as a species by providing new insights about our earliest ancestors and reconfirming our inextricable link to all life on earth. Finally, he explores the legal and ethical questions surrounding such controversial topics as stem cell research, prenatal testing, forensics, and cloning, making this volume of the Curiosity Guides series an indispensable resource for navigating our brave new genomic world.

In the decades since DNA's role in genetics was first discovered, scientists have sequenced the entire human genome and continued to expand our understanding of the human body. With the help of illustrations and infographics, this in-depth guide dives into modern genetics and its impact on evolution, disease, mental health, and much more. Students will come to understand the role that genetics play in their lives, from the cellular level to the way genes influence behavior and personality.

Current research in genomics and pharmacogenomics is increasingly highlighting the need to move towards stratified disease descriptions and individualized treatment plans. This book explains how a confluence of recent biological, technological and methodological developments is making it possible to provide personalized diagnoses and treatments. By virtue of treating each person's condition as unique, personal genomics and personalized medicine require health professionals to understand the nature of the data, its health implications, and its limitations. This book provides a detailed scientific treatment of the emerging disciplines of personal genomics and personalized medicine. It also includes a comprehensive treatment of both the promises and challenges of personal genomics and medicine from technological, societal and medical perspectives. It offers a wide-ranging review of the state of the art across all aspects of a highly multi-disciplinary subject. This book will be immensely useful for practicing health professionals and researchers, as well as senior undergraduates and graduate students in biomedical sciences.

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--is rapidly and inevitably dropping to just $1,000. Dozens of men and women--scientists, entrepreneurs, celebrities, and patients--have already been sequenced, pioneers in 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. Do you have gene variants associated with Alzheimer's or diabetes, heart disease or cancer? Which drugs should you consider taking for various diseases, and at what dosage? In the years to come, doctors will likely be able to tackle all of these questions--and many more--by using a computer in their offices to call up your unique genome sequence, which will become as much a part of your medical record as your blood pressure.