This book assesses the scientific value and merit of research on human genetic differencesâ€"including a collection of DNA samples that represents the whole of human genetic diversityâ€"and the ethical, organizational, and policy issues surrounding such research. Evaluating Human Genetic Diversity discusses the potential uses of such collection, such as providing insight into human evolution and origins and serving as a springboard for important medical research. It also addresses issues of confidentiality and individual privacy for participants in genetic diversity research studies.
Following the boom in population databases in recent years there has been sustained and intense international debate about political processes and legal and ethical issues surrounding the protection and use of genetic data. As a result, several national and international organizations and committees have published widely differing guidelines and statements concerning genetic databases and biobanks. Ethical Issues of Human Genetic Databases compares the new area of biobanking with the tradition of ethically accepted classical research and highlights the distinctive features of existing databases and guidelines. The volume identifies areas of consensus and controversy while investigating the challenges posed to classical health research ethics by the existence of genetic databases, analyzing the reasons for such varying guidelines. The book will be essential to academics, biobankers, policy-makers and researchers in the field of medical ethics.
There is growing enthusiasm in the scientific community about the prospect of mapping and sequencing the human genome, a monumental project that will have far-reaching consequences for medicine, biology, technology, and other fields. But how will such an effort be organized and funded? How will we develop the new technologies that are needed? What new legal, social, and ethical questions will be raised? Mapping and Sequencing the Human Genome is a blueprint for this proposed project. The authors offer a highly readable explanation of the technical aspects of genetic mapping and sequencing, and they recommend specific interim and long-range research goals, organizational strategies, and funding levels. They also outline some of the legal and social questions that might arise and urge their early consideration by policymakers.
Within the last decade, much progress has been made in the analysis and diagnosis of human inherited disease, and in the characterization of the underlying genes and their associated pathological lesions.
Genetic Databases offers a timely analysis of the underlying tensions, contradictions and limitations of the current regulatory frameworks for, and policy debates about, genetic databases. Drawing on original empirical research and theoretical debates in the fields of sociology, anthropology and legal studies, the contributors to this book challenge the prevailing orthodoxy of informed consent and explore the relationship between personal privacy and the public good. They also consider the multiple meanings attached to human tissue and the role of public consultations and commercial involvement in the creation and use of genetic databases. The authors argue that policy and regulatory frameworks produce a representation of participation that is often at odds with the experiences and understandings of those taking part. The findings present a serious challenge for public policy to provide mechanisms to safeguard the welfare of individuals participating in genetic databases.
Supported by figures, tables and photos, this book illustrates the basics of genetic diagnostics, prenatal and reproductive medicine, syndromology and familial cancers. It also includes numerous illustrated examples of the most frequent genetic diseases, making it a valuable resource in genetic counselling. This book is an essential tool for genetic counsellors, paediatricians, gynaecologists and all healthcare professionals who explain genetic issues to their patients. Useful also for teaching students.
Human Genome Informatics: Translating Genes into Health examines the most commonly used electronic tools for translating genomic information into clinically meaningful formats. By analyzing and comparing interpretation methods of whole genome data, the book discusses the possibilities of their application in genomic and translational medicine. Topics such as electronic decision-making tools, translation algorithms, interpretation and translation of whole genome data for rare diseases are thoroughly explored. In addition, discussions of current human genome databases and the possibilities of big data in genomic medicine are presented. With an updated approach on recent techniques and current human genomic databases, the book is a valuable source for students and researchers in genome and medical informatics. It is also ideal for workers in the bioinformatics industry who are interested in recent developments in the field. - Provides an overview of the most commonly used electronic tools to translate genomic information - Brings an update on the existing human genomic databases that directly impact genome interpretation - Summarizes and comparatively analyzes interpretation methods of whole genome data and their application in genomic medicine
This newly updated edition sheds light on the secrets of the sequence, highlighting the myriad ways in which genomics will impact human health for generations to come.
This book provides the latest information of life science databases that center in the life science research and drive the development of the field. It introduces the fundamental principles, rationales and methodologies of creating and updating life science databases. The book brings together expertise and renowned researchers in the field of life science databases and brings their experience and tools at the fingertips of the researcher. The book takes bottom-up approach to explain the structure, content and the usability of life science database. Detailed explanation of the content, structure, query and data retrieval are discussed to provide practical use of life science database and to enable the reader to use database and provided tools in practice. The readers will learn the necessary knowledge about the untapped opportunities available in life science databases and how it could be used so as to advance basic research and applied research findings and transforming them to the benefit of human life. Chapter 2 is available open access under a Creative Commons Attribution 4.0 International License via link.springer.com.
The past few years have seen a revolution in our ability to map whole genome DNA from ancient humans. With the ancient DNA revolution, combined with rapid genome mapping of present human populations, has come remarkable insights into our past. This important new data has clarified and added to our knowledge from archaeology and anthropology, helped resolve long-existing controversies, challenged long-held views, and thrown up some remarkable surprises. The emerging picture is one of many waves of ancient human migrations, so that all populations existing today are mixes of ancient ones, as well as in many cases carrying a genetic component from Neanderthals, and, in some populations, Denisovans. David Reich, whose team has been at the forefront of these discoveries, explains what the genetics is telling us about ourselves and our complex and often surprising ancestry. Gone are old ideas of any kind of racial 'purity', or even deep and ancient divides between peoples. Instead, we are finding a rich variety of mixtures. Reich describes the cutting-edge findings from the past few years, and also considers the sensitivities involved in tracing ancestry, with science sometimes jostling with politics and tradition. He brings an important wider message: that we should celebrate our rich diversity, and recognize that every one of us is the result of a long history of migration and intermixing of ancient peoples, which we carry as ghosts in our DNA. What will we discover next?
