Prenatal Genetic Testing Technology

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Understanding Genetics

Author : Genetic Alliance
Publisher : Lulu.com
ISBN 13 : 0982162219
Total Pages : 104 pages
Book Rating : 4.9/5 (821 download)

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Book Synopsis Understanding Genetics by : Genetic Alliance

Download or read book Understanding Genetics written by Genetic Alliance and published by Lulu.com. This book was released on 2009 with total page 104 pages. Available in PDF, EPUB and Kindle. Book excerpt: The purpose of this manual is to provide an educational genetics resource for individuals, families, and health professionals in the New York - Mid-Atlantic region and increase awareness of specialty care in genetics. The manual begins with a basic introduction to genetics concepts, followed by a description of the different types and applications of genetic tests. It also provides information about diagnosis of genetic disease, family history, newborn screening, and genetic counseling. Resources are included to assist in patient care, patient and professional education, and identification of specialty genetics services within the New York - Mid-Atlantic region. At the end of each section, a list of references is provided for additional information. Appendices can be copied for reference and offered to patients. These take-home resources are critical to helping both providers and patients understand some of the basic concepts and applications of genetics and genomics.

Women and Prenatal Testing

Author : Karen H. Rothenberg
Publisher : Ohio State University Press
ISBN 13 : 0814206409
Total Pages : 332 pages
Book Rating : 4.8/5 (142 download)

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Book Synopsis Women and Prenatal Testing by : Karen H. Rothenberg

Download or read book Women and Prenatal Testing written by Karen H. Rothenberg and published by Ohio State University Press. This book was released on 1994 with total page 332 pages. Available in PDF, EPUB and Kindle. Book excerpt: "For pregnant women in the 1990s, technological developments have ushered in new and expanding reproductive genetic testing options. Some herald these procedures as advances providing women with previously unavailable information about their pregnancies. Others contend that with this surge of information come increasing and perhaps unwarranted obligations: while some women have greater knowledge about their pregnancies, they also face far more complex decisions and a greater pressure to do as much as is technologically possible to ensure the birth of a healthy child." "This book focuses on the major women's issues surrounding the development and application of reproductive genetic testing. Although much has been written about the biological safety and efficacy of these technologies, few publications have addressed their psychological, sociocultural, ethical, legal, and political impact on women and their experience of pregnancy." "The first of three sections provides the contextual framework in which the debate should be analyzed. The second section sets forth the philosophical foundations and complex ethical and legal questions that need to be addressed, and the final section delineates a variety of perspectives on the psychological and sociocultural issues raised by reproductive genetic testing. These fourteen essays on the cutting edge of the debate are essential reading for anyone interested in women's studies, human genetics, health law; and bioethics and prenatal care providers."--BOOK JACKET.Title Summary field provided by Blackwell North America, Inc. All Rights Reserved

Noninvasive Prenatal Testing (NIPT)

Author : Lieve Page-Christiaens
Publisher : Academic Press
ISBN 13 : 0128141905
Total Pages : 408 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Noninvasive Prenatal Testing (NIPT) by : Lieve Page-Christiaens

Download or read book Noninvasive Prenatal Testing (NIPT) written by Lieve Page-Christiaens and published by Academic Press. This book was released on 2018-08-19 with total page 408 pages. Available in PDF, EPUB and Kindle. Book excerpt: Since its introduction in 2012, cell-free (cf) DNA based Non-Invasive Prenatal Testing (NIPT) has been employed to test for fetal chromosome abnormalities, and gene mutations that lead to a variety of genetic conditions, by millions of pregnant women, in more than 90 countries worldwide. With Noninvasive Prenatal Testing (NIPT): Applied Genomics in Prenatal Screening and Diagnosis, Dr Lieve Page-Christiaens and Dr Hanns-Georg Klein have compiled the first authoritative volume on cfDNA NIPT methods and their clinical implementation. Provides a thorough, practical examination of the history of NIPT, NIPT laboratory techniques and bioinformatics, NIPT screening and diagnostics for a wide range of disorders and birth defects Presents leading, international experts who discuss the application of NIPT in early screening for common aneuploidies, fetal chromosome anomalies, autosomal trisomies, fetal blood group typing, and maternal constitutional and acquired copy number variants Includes full color imagery that enhances concept illustration, along with detailed descriptions of the benefits (and limitations) of NIPT Offers clinicians, researchers, genetic counselors and reproductive specialists of all kinds the required background information, methodologies and essential patient counseling techniques

Prenatal Genetic Testing Technology

Author : United States. Congress. Senate. Committee on Commerce, Science, and Transportation. Subcommittee on Science, Technology, and Space
Publisher :
ISBN 13 :
Total Pages : 56 pages
Book Rating : 4.:/5 (319 download)

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Book Synopsis Prenatal Genetic Testing Technology by : United States. Congress. Senate. Committee on Commerce, Science, and Transportation. Subcommittee on Science, Technology, and Space

Download or read book Prenatal Genetic Testing Technology written by United States. Congress. Senate. Committee on Commerce, Science, and Transportation. Subcommittee on Science, Technology, and Space and published by . This book was released on 2013 with total page 56 pages. Available in PDF, EPUB and Kindle. Book excerpt:

Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders

Author : Fan Jin
Publisher :
ISBN 13 :
Total Pages : 0 pages
Book Rating : 4.:/5 (136 download)

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Book Synopsis Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders by : Fan Jin

Download or read book Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders written by Fan Jin and published by . This book was released on 2020 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.

Assessing Genetic Risks

Author : Institute of Medicine
Publisher : National Academies Press
ISBN 13 : 0309047986
Total Pages : 353 pages
Book Rating : 4.3/5 (9 download)

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Book Synopsis Assessing Genetic Risks by : Institute of Medicine

Download or read book Assessing Genetic Risks written by Institute of Medicine and published by National Academies Press. This book was released on 1994-01-01 with total page 353 pages. Available in PDF, EPUB and Kindle. Book excerpt: Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.

Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders

Author : Fan Jin
Publisher : Frontiers Media SA
ISBN 13 : 2889637395
Total Pages : 117 pages
Book Rating : 4.8/5 (896 download)

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Book Synopsis Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders by : Fan Jin

Download or read book Technologies for Prenatal Diagnosis and Assessment of Genetic Disorders written by Fan Jin and published by Frontiers Media SA. This book was released on 2020-06-22 with total page 117 pages. Available in PDF, EPUB and Kindle. Book excerpt: Birth defects are one of the major public health concerns in the world, as they cause approximately 20% of infant deaths. Genetic disorders, including chromosome abnormalities and single gene disorders, are the most common causes of birth defects for which there is no efficient treatment. Prenatal genetic screening and diagnosis allow early identification of affected conceptuses and facilitates reproduction planning or counseling. Molecular technologies have developed rapidly in recent years and have been widely used in screening and diagnosis of genetic disorders at all stages of prenatal development (e.g. pre-implantation, embryonic and fetal). However, their performance still needs to be validated and assessed as the balance between their advantages and disadvantages need to be discussed. With the ability to detect copy number variations (CNVs), polyploidy, uniparental disomy and maternal cell contamination, SNP-based chromosomal microarray analysis (CMA) is showing the unique importance in diagnosing chromosomal abnormalities. The interpretation of CNVs remains a challenge; however, ultrasound and biochemical screening improve the diagnosis of fetal chromosomal abnormalities. Whole exome sequencing (WES) and whole genome sequencing (WGS) play increasingly significant roles in prenatal and carrier screening for genetic disorders. NGS-based non-invasive prenatal screening (NIPS) is now widely used for detecting common autosomal aneuploidies and has shown the potential of detecting microdeletions and microduplications. However, further investigations of the sensitivity and accuracy are required and large-scale data is necessary to evaluate the performance and clinical applications of current and new methods. Recently, reports of application of newer technologies in prenatal setting became available. Examples include third generation sequencing (reading the nucleotide sequences at the single molecule level), digital PCR (used for direct quantification of DNA) and cell-based NIPT. In the followed listed papers, the authors showed their successful experiences in identifying novel mutation, detecting low-level mosaicism or de novo mutations limited in germline cells, investigating the association of the CNVs with specific phenotypic alterations by using WES, CMA, digital PCR and some other new-developed molecular techniques. More interesting, the authors also presented a report about the evaluation of diagnostic yield in fetal WES, which suggested a new tendency to apply WES or WGS directly for prenatal diagnosis. We believed that the efficiency of scanning causative mutations and prenatal or preimplantion genetic diagnosis for genetic disorders will further improved based on the technologies of whole genomic sequencing with further improved output and resolution. New techniques, such as quick-WES for the newborn in intensive care unit, direct-WGS for prenatal diagnosis and non-invasive test for fetal monogenic disorders, will become available in the near future.

An Evidence Framework for Genetic Testing

Author : National Academies of Sciences, Engineering, and Medicine
Publisher : National Academies Press
ISBN 13 : 0309453291
Total Pages : 149 pages
Book Rating : 4.3/5 (94 download)

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Book Synopsis An Evidence Framework for Genetic Testing by : National Academies of Sciences, Engineering, and Medicine

Download or read book An Evidence Framework for Genetic Testing written by National Academies of Sciences, Engineering, and Medicine and published by National Academies Press. This book was released on 2017-04-21 with total page 149 pages. Available in PDF, EPUB and Kindle. Book excerpt: Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Perinatal Genetics

Author : Mary E Norton
Publisher : Elsevier Health Sciences
ISBN 13 : 0323530966
Total Pages : 350 pages
Book Rating : 4.3/5 (235 download)

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Book Synopsis Perinatal Genetics by : Mary E Norton

Download or read book Perinatal Genetics written by Mary E Norton and published by Elsevier Health Sciences. This book was released on 2019-01-23 with total page 350 pages. Available in PDF, EPUB and Kindle. Book excerpt: Get a quick, expert overview of the fast-changing field of perinatal genetics with this concise, practical resource. Drs. Mary Norton, Jeffrey A. Kuller, Lorraine Dugoff, and George Saade fully cover the clinically relevant topics that are key to providers who care for pregnant women and couples contemplating pregnancy. It’s an ideal resource for Ob/Gyn physicians, maternal-fetal medicine specialists, and clinical geneticists, as well as midwives, nurse practitioners, and other obstetric providers. Provides a comprehensive review of basic principles of medical genetics and genetic counseling, molecular genetics, cytogenetics, prenatal screening options, chromosomal microarray analysis, whole exome sequencing, prenatal ultrasound, diagnostic testing, and more. Contains a chapter on fetal treatment of genetic disorders. Consolidates today’s available information and experience in this important area into one convenient resource.

Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies

Author : Sorin Hostiuc
Publisher : Academic Press
ISBN 13 : 0128137657
Total Pages : 431 pages
Book Rating : 4.1/5 (281 download)

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Book Synopsis Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies by : Sorin Hostiuc

Download or read book Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies written by Sorin Hostiuc and published by Academic Press. This book was released on 2018-08-07 with total page 431 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical Ethics at the Crossroads of Genetic and Reproductive Technologies offers thorough discussions on preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, sex selection, predictive testing, secondary findings, embryo reduction and the moral status of the embryo, genetic enhancement, and the sharing of genetic data. Chapter contributions from leading bioethicists and clinicians encourage a global, holistic perspective on applied challenges and the moral questions relating the implementation of genetic reproductive technology. The book is an ideal resource for practitioners, regulators, lawmakers, clinical researchers, genetic counselors and graduate and medical students. As the Human Genome Project has triggered a technological revolution that has influenced nearly every field of medicine, including reproductive medicine, obstetrics, gynecology, andrology, prenatal genetic testing, and gene therapy, this book presents a timely resource. Provides practical analysis of the ethical issues raised by cutting-edge techniques and recent advances in prenatal and reproductive genetics Contains contributions from leading bioethicists and clinicians who offer a global, holistic perspective on applied challenges and moral questions relating to genetic and genomic reproductive technology Discusses preconception carrier screening, genetic engineering and the use of CRISPR gene editing, mitochondrial gene replacement therapy, ethical issues, and more

Prenatal Genetic Counseling

Author : Sam Riedijk
Publisher : Academic Press
ISBN 13 : 0128233311
Total Pages : 228 pages
Book Rating : 4.1/5 (282 download)

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Book Synopsis Prenatal Genetic Counseling by : Sam Riedijk

Download or read book Prenatal Genetic Counseling written by Sam Riedijk and published by Academic Press. This book was released on 2021-10-20 with total page 228 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prenatal Genetic Counseling: Practical Support for Prenatal Diagnostics, Decision-Making, and Dealing with Uncertainty provides a foundation for new research and a one-stop source for physicians, genetic counselors, psychologists, social workers, general practitioners, grief workers, translational researchers, and administrators seeking to work in the field of clinical genomics ethically and in full consideration of patients’ psychological well-being. Here, an international team of experienced counselors and clinician-scientists lay out the range of methods and technologies applied in prenatal decision-making, including NIPT; invasive testing with microarray analysis or whole genome sequencing; ultrasound screening; and prenatal diagnosis for known hereditary conditions, among others. From here, they examine specific challenges in the clinical translation. In a field where decisions about life or death of a child are made, professionals are bound to encounter uncertainty. This book was co-created by health care practitioners, scientists, patients and students to provide insights and direction for offering support straight from the heart to couples faced with fetal anomalies. To make this possible for all couples, diversity in prenatal genetic counseling is also addressed. Finally, next steps in prenatal genetic counseling research and clinical implementation are discussed. As we are challenged by the rapid advances in prenatal genomics, so are our patients. Learning from our patients with every encounter, this book aims to offer access to the insights we gathered as well as to stimulate lifelong learning. Features a range of international chapter authors addressing prenatal medicine from bench-to-bedside, including health care practitioners, scientists, patients and students Covers use and psychological implications of technologies applied in prenatal decision-making, including NIPT, invasive testing with microarray analysis; exome sequencing; whole genome sequencing; and ultrasound screening and addresses diversity in prenatal genetic counseling Discusses next steps for prenatal genetic counseling research and common challenges in the clinic, with detailed case descriptions offering insights from the authors’ counseling experiences

Human Reproductive and Prenatal Genetics

Author : Peter C.K. Leung
Publisher : Elsevier
ISBN 13 : 0323913814
Total Pages : 930 pages
Book Rating : 4.3/5 (239 download)

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Book Synopsis Human Reproductive and Prenatal Genetics by : Peter C.K. Leung

Download or read book Human Reproductive and Prenatal Genetics written by Peter C.K. Leung and published by Elsevier. This book was released on 2023-03-22 with total page 930 pages. Available in PDF, EPUB and Kindle. Book excerpt: Human Reproductive and Prenatal Genetics, Second Edition provides application-driven coverage of key topics in human reproductive and prenatal genetics, including genetic control underlying the development of the reproductive tracts and gametogenesis, the genetics of fertilization and implantation, the genetic basis of female and male infertility, as well as genetic and epigenetic aspects of assisted reproduction. Also examined are the genetics and epigenetics of the placenta in normal and abnormal pregnancy, preimplantation genetic diagnosis and screening, and cutting-edge advances in noninvasive prenatal screening, prenatal genetic counseling, and bioethical and medicolegal aspects of relevance in the lab and clinic. This new edition has been fully revised to address new and evolving technologies in human reproductive genetics, with new chapters added on chromatin landscapes and sex determination, genetic alterations of placental development and preeclampsia, metabolism and inflammation in PCOS, pre-implantational genetic testing, maternal genetic disorders, bioethics, and future applications. Features chapter contributions from leading international scientists and clinicians Provides in-depth coverage of key topics in human reproductive and prenatal genetics, including genetic controls, fertilization, placental development, embryo implantation, in vitro culture of the human embryo for the study of post-implantation development, and more Identifies how researchers and clinicians can implement the latest genetic, epigenetic, and –omics-based approaches Includes all new chapters on evolving technologies and recent genetic discoveries of relevance to reproductive medicine

Prenatal Genetic Testing Technology

Author : United States. Congress
Publisher : Createspace Independent Publishing Platform
ISBN 13 : 9781977771964
Total Pages : 54 pages
Book Rating : 4.7/5 (719 download)

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Book Synopsis Prenatal Genetic Testing Technology by : United States. Congress

Download or read book Prenatal Genetic Testing Technology written by United States. Congress and published by Createspace Independent Publishing Platform. This book was released on 2017-09-30 with total page 54 pages. Available in PDF, EPUB and Kindle. Book excerpt: Prenatal genetic testing technology : science, policy, and ethics : hearing before the Subcommittee on Science, Technology, and Space of the Committee on Commerce, Science, and Transportation, United States Senate, One Hundred Eighth Congress, first session, November 17, 2004.

Reproductive Genetics

Author : Sean Kehoe
Publisher : RCOG
ISBN 13 : 1906985162
Total Pages : 245 pages
Book Rating : 4.9/5 (69 download)

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Book Synopsis Reproductive Genetics by : Sean Kehoe

Download or read book Reproductive Genetics written by Sean Kehoe and published by RCOG. This book was released on 2009-11 with total page 245 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book presents the findings of the RCOG Study Group findings on genetics underlying reproductive function.

Genomic Disorders

Author : James R. Lupski
Publisher : Springer Science & Business Media
ISBN 13 : 1597450391
Total Pages : 426 pages
Book Rating : 4.5/5 (974 download)

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Book Synopsis Genomic Disorders by : James R. Lupski

Download or read book Genomic Disorders written by James R. Lupski and published by Springer Science & Business Media. This book was released on 2007-11-10 with total page 426 pages. Available in PDF, EPUB and Kindle. Book excerpt: A grand summary and synthesis of the tremendous amount of data now available in the post genomic era on the structural features, architecture, and evolution of the human genome. The authors demonstrate how such architectural features may be important to both evolution and to explaining the susceptibility to those DNA rearrangements associated with disease. Technologies to assay for such structural variation of the human genome and to model genomic disorders in mice are also presented. Two appendices detail the genomic disorders, providing genomic features at the locus undergoing rearrangement, their clinical features, and frequency of detection.

Testing Women, Testing the Fetus

Author : Rayna Rapp
Publisher : Routledge
ISBN 13 : 1135963924
Total Pages : 376 pages
Book Rating : 4.1/5 (359 download)

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Book Synopsis Testing Women, Testing the Fetus by : Rayna Rapp

Download or read book Testing Women, Testing the Fetus written by Rayna Rapp and published by Routledge. This book was released on 2004-11-23 with total page 376 pages. Available in PDF, EPUB and Kindle. Book excerpt: Rich with the voices and stories of participants, these touching, firsthand accounts examine how women of diverse racial, ethnic, class and religious backgrounds perceive prenatal testing, the most prevalent and routinized of the new reproducing technologies. Based on the author's decade of research and her own personal experiences with amniocentesis, Testing Women, Testing the Fetus explores the "geneticization" of family life in all its complexity and diversity.

The Gene Machine

Author : Bonnie Rochman
Publisher : Scientific American / Farrar, Straus and Giroux
ISBN 13 : 0374713960
Total Pages : 288 pages
Book Rating : 4.3/5 (747 download)

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Book Synopsis The Gene Machine by : Bonnie Rochman

Download or read book The Gene Machine written by Bonnie Rochman and published by Scientific American / Farrar, Straus and Giroux. This book was released on 2017-02-28 with total page 288 pages. Available in PDF, EPUB and Kindle. Book excerpt: A sharp-eyed exploration of the promise and peril of having children in an age of genetic tests and interventions Is screening for disease in an embryo a humane form of family planning or a slippery slope toward eugenics? Should doctors tell you that your infant daughter is genetically predisposed to breast cancer? If tests revealed that your toddler has a genetic mutation whose significance isn’t clear, would you want to know? In The Gene Machine, the award-winning journalist Bonnie Rochman deftly explores these hot-button questions, guiding us through the new frontier of gene technology and how it is transforming medicine, bioethics, health care, and the factors that shape a family. Rochman tells the stories of scientists working to unlock the secrets of the human genome; genetic counselors and spiritual advisers guiding mothers and fathers through life-changing choices; and, of course, parents (including Rochman herself) grappling with revelations that are sometimes joyous, sometimes heartbreaking, but always profound. She navigates the dizzying and constantly expanding array of prenatal and postnatal tests, from carrier screening to genome sequencing, while considering how access to more tests is altering perceptions of disability and changing the conversation about what sort of life is worth living and who draws the line. Along the way, she highlights the most urgent ethical quandary: Is this technology a triumph of modern medicine or a Pandora’s box of possibilities? Propelled by human narratives and meticulously reported, The Gene Machine is both a scientific road map and a meditation on our power to shape the future. It is a book that gets to the very core of what it means to be human.