This important book traces the history of genetics and genomics policy in Britain. Detailing the scientific, political, and economic factors that have informed policy and the development of new health services, the book highlights the particular importance of the field of Public Health Genomics. Although focused primarily on events in Britain, the book reveals a number of globally applicable lessons. The authors explain how and why Public Health Genomics developed and the ways in which genetics and genomics have come to have a central place in many important health debates. Consideration of their ethical, social, and legal implications and ensuring that new services that are equitable, appropriate, and well-targeted will be central to effective health planning and policymaking in future. The book features: Interviews with leading individuals who were intimately involved in the development of genetics and genomics policy and Public Health Genomics Insights from experts who participated in a pair of 'witness seminars' Historical analysis exploiting a wide range of primary sources Written in a clear and accessible style, this book will be of interest to those involved in the research and practice of genetics, genomics, bioethics, and population health, but also to NHS staff, policymakers, politicians, and the public. It will also be valuable supplementary reading for students of the History of Medicine and Health, Public Health, and Biomedical Sciences.

Medical and Health Genomics provides concise and evidence-based technical and practical information on the applied and translational aspects of genome sciences and the technologies related to non-clinical medicine and public health. Coverage is based on evolving paradigms of genomic medicine—in particular, the relation to public and population health genomics now being rapidly incorporated in health management and administration, with further implications for clinical population and disease management. - Provides extensive coverage of the emergent field of health genomics and its huge relevance to healthcare management - Presents user-friendly language accompanied by explanatory diagrams, figures, and many references for further study - Covers the applied, but non-clinical, sciences across disease discovery, genetic analysis, genetic screening, and prevention and management - Details the impact of clinical genomics across a diverse array of public and community health issues, and within a variety of global healthcare systems

Practical Genomics for Clinical Ophthalmology provides in-depth coverage of the clinical applications of genomics in eye disease, with a key emphasis on case-study based instruction in patient care and genetic counseling aspects, genetic and genomic diagnostics, and treatment pathways. The book presents the latest information on genetic and genomic test results, best practices for delivery of results to patients and families, and ongoing research into therapeutics, with specific chapters covering non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, developmental eye abnormalities, nystagmus, ocular motility disorders, optic neuropathies, phacomatoses, and retinoblastoma, and more. In addition, clinical case studies illustrate examples of common genetic eye disorders and highlight vital learning points for the reader. Presents the work of leading international researchers and clinicians who speak in-depth on the clinical applications of genomics in diagnosis and treatment of eye disease Provides full-color, richly illustrated chapters that cover current genetic and genomic testing methods employed in ophthalmology Includes instructions on the diagnosis and treatment of a wide range of conditions, including non-syndromic inherited retinal disease, syndromic IRD, vitreoretinopathies, lens abnormalities, corneal disease, albinism, anterior segment dysgenesis, glaucoma, and more Contains case studies that illustrate common genetic eye disorders and highlight vital learning points for the reader

How the regimes governing biological research changed during the genomics revolution, focusing on the Human Genome Project. The rise of genomics engendered intense struggle over the control of knowledge. In Reordering Life, Stephen Hilgartner examines the “genomics revolution” and develops a novel approach to studying the dynamics of change in knowledge and control. Hilgartner focuses on the Human Genome Project (HGP)—the symbolic and scientific centerpiece of the emerging field—showing how problems of governance arose in concert with new knowledge and technology. Using a theoretical framework that analyzes “knowledge control regimes,” Hilgartner investigates change in how control was secured, contested, allocated, resisted, justified, and reshaped as biological knowledge was transformed. Beyond illuminating genomics, Reordering Life sheds new light on broader issues about secrecy and openness in science, data access and ownership, and the politics of research communities. Drawing on real-time interviews and observations made during the HGP, Reordering Life describes the sociotechnical challenges and contentious issues that the genomics community faced throughout the project. Hilgartner analyzes how laboratories control access to data, biomaterials, plans, preliminary results, and rumors; compares conflicting visions of how to impose coordinating mechanisms; examines the repeated destabilization and restabilization of the regimes governing genome databases; and examines the fierce competition between the publicly funded HGP and the private company Celera Genomics. The result is at once a path-breaking study of a self-consciously revolutionary science, and a provocative analysis of how knowledge and control are reconfigured during transformative scientific change.

Genome editing is a powerful new tool for making precise alterations to an organism's genetic material. Recent scientific advances have made genome editing more efficient, precise, and flexible than ever before. These advances have spurred an explosion of interest from around the globe in the possible ways in which genome editing can improve human health. The speed at which these technologies are being developed and applied has led many policymakers and stakeholders to express concern about whether appropriate systems are in place to govern these technologies and how and when the public should be engaged in these decisions. Human Genome Editing considers important questions about the human application of genome editing including: balancing potential benefits with unintended risks, governing the use of genome editing, incorporating societal values into clinical applications and policy decisions, and respecting the inevitable differences across nations and cultures that will shape how and whether to use these new technologies. This report proposes criteria for heritable germline editing, provides conclusions on the crucial need for public education and engagement, and presents 7 general principles for the governance of human genome editing.

Heritable human genome editing - making changes to the genetic material of eggs, sperm, or any cells that lead to their development, including the cells of early embryos, and establishing a pregnancy - raises not only scientific and medical considerations but also a host of ethical, moral, and societal issues. Human embryos whose genomes have been edited should not be used to create a pregnancy until it is established that precise genomic changes can be made reliably and without introducing undesired changes - criteria that have not yet been met, says Heritable Human Genome Editing. From an international commission of the U.S. National Academy of Medicine, U.S. National Academy of Sciences, and the U.K.'s Royal Society, the report considers potential benefits, harms, and uncertainties associated with genome editing technologies and defines a translational pathway from rigorous preclinical research to initial clinical uses, should a country decide to permit such uses. The report specifies stringent preclinical and clinical requirements for establishing safety and efficacy, and for undertaking long-term monitoring of outcomes. Extensive national and international dialogue is needed before any country decides whether to permit clinical use of this technology, according to the report, which identifies essential elements of national and international scientific governance and oversight.

Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti