Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
Author: Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle
Publsiher: Academic Press
Total Pages: 436
Release: 2021-02-27
ISBN 10: 0128205202
ISBN 13: 9780128205204
Language: EN, FR, DE, ES & NL

Clinical DNA Variant Interpretation Book Review:

Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, covers foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature, international consensus guidelines, population allele frequency, functional evidence transcripts for RNA, proteins, and enzymes, somatic mutations, somatic profiling, and much more. Compiles best practices, methods and sound evidence for DNA variant classification in one applied volume Features chapter contributions from international leaders in the field Includes practical examples of variant classification for common and rare disorders, and across clinical phenotypes

Clinical DNA Variant Interpretation

Clinical DNA Variant Interpretation
Author: Conxi Lázaro,Jordan Lerner-Ellis,Amanda Spurdle,George P. Patrinos
Publsiher: Elsevier
Total Pages: 436
Release: 2021-03-15
ISBN 10: 0128205199
ISBN 13: 9780128205198
Language: EN, FR, DE, ES & NL

Clinical DNA Variant Interpretation Book Review:

We live in a very exciting time in the field of human genetics; NGS technology is generating enormous amounts of data for classifying genetic variants. However, defining the role of these variants in human health and disease can be difficult, especially when a variant's mechanism of action or the phenotype associated with a genetic mutation are not well defined. Work in multidisciplinary teams and development of multifactorial algorithms, including artificial intelligence and machine learning approaches, are integral to streamlining variant classification. Clinical DNA Variant Interpretation: Theory and Practice, a new volume in the Translational and Applied Genomics series, brings more than thirty international experts together to compile variant interpretation best practices and approaches in a single volume, covering foundational aspects, modes of analysis, technology, disease and disorder specific case studies, and clinical integration. This book provides a deep theoretical background, as well as applied case studies and methodology, enabling researchers, clinicians, and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes. Practical chapters discuss genomic variant interpretation, terminology and nomenclature; international consensus guidelines; population allele frequency; functional evidence transcripts for RNA, proteins, and enzymes; somatic mutations and somatic profiling; CNV interpretation; quantitative modeling; machine learning approaches; genomic data sharing; genetic testing in clinical practice; and holistic case-level interpretation. Biomedical specialties of relevance include internal medicine, medical genetics, oncology, psychiatry, neurology, and immunology, and those driving implementation of precision medicine and personalized treatments.

Clinical Precision Medicine

Clinical Precision Medicine
Author: Judy S. Crabtree
Publsiher: Academic Press
Total Pages: 112
Release: 2019-11-15
ISBN 10: 0128204028
ISBN 13: 9780128204023
Language: EN, FR, DE, ES & NL

Clinical Precision Medicine Book Review:

Clinical Precision Medicine: A Primer offers clinicians, researchers and students a practical, up-to-date resource on precision medicine, its evolving technologies, and pathways towards clinical implementation. Early chapters address the fundamentals of molecular biology and gene regulation as they relate to precision medicine, as well as the foundations of heredity and epigenetics. Oncology, an early adopter of precision approaches, is considered with its relationship to genetic variation in drug metabolism, along with tumor immunology and the impact of DNA variation in clinical care. Contributions by Stephanie Kramer, a Clinical Genetic Counselor, also provide current information on prenatal diagnostics and adult genetics that highlight the critical role of genetic counselors in the era of precision medicine. Includes applied discussions of chromosomes and chromosomal abnormalities, molecular genetics, epigenetic regulation, heredity, clinical genetics, pharmacogenomics and immunogenomics Features chapter contributions from leaders in the field Consolidates fundamental concepts and current practices of precision medicine in one convenient resource

Clinical Genomics

Clinical Genomics
Author: Shashikant Kulkarni,John Pfeifer
Publsiher: Academic Press
Total Pages: 488
Release: 2014-11-10
ISBN 10: 0124051731
ISBN 13: 9780124051737
Language: EN, FR, DE, ES & NL

Clinical Genomics Book Review:

Clinical Genomics provides an overview of the various next-generation sequencing (NGS) technologies that are currently used in clinical diagnostic laboratories. It presents key bioinformatic challenges and the solutions that must be addressed by clinical genomicists and genomic pathologists, such as specific pipelines for identification of the full range of variants that are clinically important. This book is also focused on the challenges of diagnostic interpretation of NGS results in a clinical setting. Its final sections are devoted to the emerging regulatory issues that will govern clinical use of NGS, and reimbursement paradigms that will affect the way in which laboratory professionals get paid for the testing. Simplifies complexities of NGS technologies for rapid education of clinical genomicists and genomic pathologists towards genomic medicine paradigm Tried and tested practice-based analysis for precision diagnosis and treatment plans Specific pipelines and meta-analysis for full range of clinically important variants

Clinical Applications for Next Generation Sequencing

Clinical Applications for Next Generation Sequencing
Author: Urszula Demkow,Rafal Ploski
Publsiher: Academic Press
Total Pages: 334
Release: 2015-09-10
ISBN 10: 0128018410
ISBN 13: 9780128018415
Language: EN, FR, DE, ES & NL

Clinical Applications for Next Generation Sequencing Book Review:

Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies

Clinical Genome Sequencing

Clinical Genome Sequencing
Author: Aad Tibben,Barbara B. Biesecker
Publsiher: Academic Press
Total Pages: 258
Release: 2019-03-30
ISBN 10: 0128133368
ISBN 13: 9780128133361
Language: EN, FR, DE, ES & NL

Clinical Genome Sequencing Book Review:

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. Features contributions from leading international researchers and practitioners versed in the psychosocial dimensions of genomic medicine implementation Presents clinical case studies that support concept illustration, making this an invaluable reference for students, researchers, and clinicians looking for practical guidance in this important and multifaceted topic area Details the current state of genomic testing, expectations of genome sequencing, patient consent, patient responses to sequencing data, uncertainties in genome sequencing, direct-to-consumer genome sequencing, and more

Molecular Diagnostics

Molecular Diagnostics
Author: George P. Patrinos,Wilhelm Ansorge,Phillip B. Danielson
Publsiher: Academic Press
Total Pages: 520
Release: 2016-10-27
ISBN 10: 0128029889
ISBN 13: 9780128029886
Language: EN, FR, DE, ES & NL

Molecular Diagnostics Book Review:

Molecular Diagnostics, Third Edition, focuses on the technologies and applications that professionals need to work in, develop, and manage a clinical diagnostic laboratory. Each chapter contains an expert introduction to each subject that is next to technical details and many applications for molecular genetic testing that can be found in comprehensive reference lists at the end of each chapter. Contents are divided into three parts, technologies, application of those technologies, and related issues. The first part is dedicated to the battery of the most widely used molecular pathology techniques. New chapters have been added, including the various new technologies involved in next-generation sequencing (mutation detection, gene expression, etc.), mass spectrometry, and protein-specific methodologies. All revised chapters have been completely updated, to include not only technology innovations, but also novel diagnostic applications. As with previous editions, each of the chapters in this section includes a brief description of the technique followed by examples from the area of expertise from the selected contributor. The second part of the book attempts to integrate previously analyzed technologies into the different aspects of molecular diagnostics, such as identification of genetically modified organisms, stem cells, pharmacogenomics, modern forensic science, molecular microbiology, and genetic diagnosis. Part three focuses on various everyday issues in a diagnostic laboratory, from genetic counseling and related ethical and psychological issues, to safety and quality management. Presents a comprehensive account of all new technologies and applications used in clinical diagnostic laboratories Explores a wide range of molecular-based tests that are available to assess DNA variation and changes in gene expression Offers clear translational presentations by the top molecular pathologists, clinical chemists, and molecular geneticists in the field

Integrating Large Scale Genomic Information into Clinical Practice

Integrating Large Scale Genomic Information into Clinical Practice
Author: Institute of Medicine,Board on Health Sciences Policy,Roundtable on Translating Genomic-Based Research for Health
Publsiher: National Academies Press
Total Pages: 112
Release: 2012-02-06
ISBN 10: 0309220378
ISBN 13: 9780309220378
Language: EN, FR, DE, ES & NL

Integrating Large Scale Genomic Information into Clinical Practice Book Review:

The initial sequencing of the human genome, carried out by an international group of experts, took 13 years and $2.7 billion to complete. In the decade since that achievement, sequencing technology has evolved at such a rapid pace that today a consumer can have his or her entire genome sequenced by a single company in a matter of days for less than $10,000, though the addition of interpretation may extend this timeframe. Given the rapid technological advances, the potential effect on the lives of patients, and the increasing use of genomic information in clinical care, it is important to address how genomics data can be integrated into the clinical setting. Genetic tests are already used to assess the risk of breast and ovarian cancers, to diagnose recessive diseases such as cystic fibrosis, to determine drug dosages based on individual patient metabolism, and to identify therapeutic options for treating lung and breast tumors, melanoma, and leukemia. With these issues in mind and considering the potential impact that genomics information can have on the prevention, diagnosis, and treatment of disease, the Roundtable on Translating Genomic-Based Research for Health hosted a workshop on July 19, 2011, to highlight and identify the challenges and opportunities in integrating large-scale genomic information into clinical practice. Integrating Large-Scale Genomic Information into Clinical Practice summarizes the speaker presentations and the discussions that followed them. This report focuses on several key topics, including the analysis, interpretation, and delivery of genomic information plus workforce, ethical, and legal issues.

Making Sense of Genes

Making Sense of Genes
Author: Kostas Kampourakis
Publsiher: Cambridge University Press
Total Pages: 314
Release: 2017-03-30
ISBN 10: 1107567491
ISBN 13: 9781107567498
Language: EN, FR, DE, ES & NL

Making Sense of Genes Book Review:

What are genes? What do genes do? These seemingly simple questions are in fact challenging to answer accurately. As a result, there are widespread misunderstandings and over-simplistic answers, which lead to common conceptions widely portrayed in the media, such as the existence of a gene 'for' a particular characteristic or disease. In reality, the DNA we inherit interacts continuously with the environment and functions differently as we age. What our parents hand down to us is just the beginning of our life story. This comprehensive book analyses and explains the gene concept, combining philosophical, historical, psychological and educational perspectives with current research in genetics and genomics. It summarises what we currently know and do not know about genes and the potential impact of genetics on all our lives. Making Sense of Genes is an accessible but rigorous introduction to contemporary genetics concepts for non-experts, undergraduate students, teachers and healthcare professionals.

Genomics Circuits and Pathways in Clinical Neuropsychiatry

Genomics  Circuits  and Pathways in Clinical Neuropsychiatry
Author: Thomas Lehner,Bruce L. Miller,Matthew W. State
Publsiher: Academic Press
Total Pages: 796
Release: 2016-06-07
ISBN 10: 0128005300
ISBN 13: 9780128005309
Language: EN, FR, DE, ES & NL

Genomics Circuits and Pathways in Clinical Neuropsychiatry Book Review:

This foundational work comprehensively examines the current state of the genetics, genomics and brain circuitry of psychiatric and neurological disorders. It consolidates discoveries of specific genes and genomic regions associated with these conditions, the genetic and anatomic architecture of these syndromes, and addresses how recent advances in genomics are leading to a reappraisal of the biology underlying clinical neuroscience. In doing so, it critically examines the promise and limitations of these discoveries toward treatment, and to the interdisciplinary nature of understanding brain and behavior. Coverage includes new discoveries regarding autism, epilepsy, intellectual disability, dementias, movement disorders, language impairment, disorders of attention, schizophrenia, and bipolar disorder. Genomics, Circuits, and Pathways in Clinical Neuropsychiatry focuses on key concepts, challenges, findings, and methods in genetics, genomics, molecular pathways, brain circuitry, and related neurobiology of neurologic and psychiatric disorders. Provides interdisciplinary appeal in psychiatry, neurology, neuroscience, and genetics Identifies key concepts, methods, and findings Includes coverage of multiple disorders from autism to schizophrenia Reviews specific genes associated with disorders Discusses the genetic architecture of these syndromes Explains how recent findings are influencing the understanding of biology Clarifies the promise of these findings for future treatment

Modern Medical Genetics and Genomics

Modern Medical Genetics and Genomics
Author: Israel Gomy
Publsiher: BoD – Books on Demand
Total Pages: 104
Release: 2019-12-18
ISBN 10: 183968142X
ISBN 13: 9781839681424
Language: EN, FR, DE, ES & NL

Modern Medical Genetics and Genomics Book Review:

The field of medical genetics and genomics has been constantly revolutionized by new breakthroughs, which bring more knowledge into the etiology and help improve the health care of individuals with either rare or common diseases. Nevertheless, as technologies evolve, novel challenges emerge, both technically and ethically, so they must be prudentially addressed. Among the myriad applications of genomics in medicine, this book depicts a glimpse of the advances achieved that have been leading us to the personalized/precision medicine era.

Genomics of Rare Diseases

Genomics of Rare Diseases
Author: Claudia Gonzaga-Jauregui,James R. Lupski
Publsiher: Academic Press
Total Pages: 316
Release: 2021-06-12
ISBN 10: 0128204362
ISBN 13: 9780128204368
Language: EN, FR, DE, ES & NL

Genomics of Rare Diseases Book Review:

Genomics of Rare Diseases: Understanding Disease Genetics Using Genomic Approaches, a new volume in the Translational and Applied Genomics series, offers readers a broad understanding of current knowledge on rare diseases through a genomics lens. This clear understanding of the latest molecular and genomic technologies used to elucidate the molecular causes of more than 5,000 genetic disorders brings readers closer to unraveling many more that remain undefined and undiscovered. The challenges associated with performing rare disease research are also discussed, as well as the opportunities that the study of these disorders provides for improving our understanding of disease architecture and pathophysiology. Leading chapter authors in the field discuss approaches such as karyotyping and genomic sequencing for the better diagnosis and treatment of conditions including recessive diseases, dominant and X-linked disorders, de novo mutations, sporadic disorders and mosaicism. Compiles applied case studies and methodologies, enabling researchers, clinicians and healthcare providers to effectively classify DNA variants associated with disease and patient phenotypes Discusses the main challenges in studying the genetics of rare diseases through genomic approaches and possible or ongoing solutions Explores opportunities for novel therapeutics Features chapter contributions from leading researchers and clinicians

Evolution of Translational Omics

Evolution of Translational Omics
Author: Institute of Medicine,Board on Health Sciences Policy,Board on Health Care Services,Committee on the Review of Omics-Based Tests for Predicting Patient Outcomes in Clinical Trials
Publsiher: National Academies Press
Total Pages: 354
Release: 2012-09-13
ISBN 10: 0309224187
ISBN 13: 9780309224185
Language: EN, FR, DE, ES & NL

Evolution of Translational Omics Book Review:

Technologies collectively called omics enable simultaneous measurement of an enormous number of biomolecules; for example, genomics investigates thousands of DNA sequences, and proteomics examines large numbers of proteins. Scientists are using these technologies to develop innovative tests to detect disease and to predict a patient's likelihood of responding to specific drugs. Following a recent case involving premature use of omics-based tests in cancer clinical trials at Duke University, the NCI requested that the IOM establish a committee to recommend ways to strengthen omics-based test development and evaluation. This report identifies best practices to enhance development, evaluation, and translation of omics-based tests while simultaneously reinforcing steps to ensure that these tests are appropriately assessed for scientific validity before they are used to guide patient treatment in clinical trials.

Advanced Topics in Forensic DNA Typing Interpretation

Advanced Topics in Forensic DNA Typing  Interpretation
Author: John M. Butler
Publsiher: Academic Press
Total Pages: 608
Release: 2014-07-28
ISBN 10: 012405854X
ISBN 13: 9780124058545
Language: EN, FR, DE, ES & NL

Advanced Topics in Forensic DNA Typing Interpretation Book Review:

Advanced Topics in Forensic DNA Typing: Interpretation builds upon the previous two editions of John Butler’s internationally acclaimed Forensic DNA Typing textbook with forensic DNA analysts as its primary audience. Intended as a third-edition companion to the Fundamentals of Forensic DNA Typing volume published in 2010 and Advanced Topics in Forensic DNA Typing: Methodology published in 2012, this book contains 16 chapters with 4 appendices providing up-to-date coverage of essential topics in this important field. Over 80 % of the content of this book is new compared to previous editions. Provides forensic DNA analysts coverage of the crucial topic of DNA mixture interpretation and statistical analysis of DNA evidence Worked mixture examples illustrate the impact of different statistical approaches for reporting results Includes allele frequencies for 24 commonly used autosomal STR loci, the revised Quality Assurance Standards which went into effect September 2011

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations
Author: Ali Samadikuchaksaraei,Morteza Seifi
Publsiher: BoD – Books on Demand
Total Pages: 100
Release: 2019-09-04
ISBN 10: 1789237998
ISBN 13: 9781789237993
Language: EN, FR, DE, ES & NL

Bioinformatics Tools for Detection and Clinical Interpretation of Genomic Variations Book Review:

Genomic variations and phenotypic diversity are closely linked and form the underlying mechanism for development of many human diseases. This book addresses the methods of detection, analysis, and interpretation of genomic variations in clinically relevant scenarios. If your research or clinical practice involves handling of genomic sequencing data, this book is for you. Topics covered include: methods for identifying genetic diversity, the workflow for analyzing whole exome and whole genome sequencing data, local ancestry deconvolution models, the value of molecular patterns and pattern biomarkers in cancer diagnosis and prognosis, and genotyping and profiling resistance-associated variants of hepatitis C. If your research or clinical practice involves handling of genomic sequencing data, this book is for you.

The Genetics of Cancer

The Genetics of Cancer
Author: B.A. Ponder,M.J. Waring
Publsiher: Springer Science & Business Media
Total Pages: 221
Release: 2012-12-06
ISBN 10: 9401106770
ISBN 13: 9789401106771
Language: EN, FR, DE, ES & NL

The Genetics of Cancer Book Review:

It has been recognized for almost 200 years that certain families seem to inherit cancer. It is only in the past decade, however, that molecular genetics and epidemiology have combined to define the role of inheritance in cancer more clearly, and to identify some of the genes involved. The causative genes can be tracked through cancer-prone families via genetic linkage and positional cloning. Several of the genes discovered have subsequently been proved to play critical roles in normal growth and development. There are also implications for the families themselves in terms of genetic testing with its attendant dilemmas, if it is not clear that useful action will result. The chapters in The Genetics of Cancer illustrate what has already been achieved and take a critical look at the future directions of this research and its potential clinical applications.

Artificial Intelligence in Medicine

Artificial Intelligence in Medicine
Author: David Riaño,Szymon Wilk,Annette ten Teije
Publsiher: Springer
Total Pages: 429
Release: 2019-06-19
ISBN 10: 303021642X
ISBN 13: 9783030216429
Language: EN, FR, DE, ES & NL

Artificial Intelligence in Medicine Book Review:

This book constitutes the refereed proceedings of the 17th Conference on Artificial Intelligence in Medicine, AIME 2019, held in Poznan, Poland, in June 2019. The 22 revised full and 31 short papers presented were carefully reviewed and selected from 134 submissions. The papers are organized in the following topical sections: deep learning; simulation; knowledge representation; probabilistic models; behavior monitoring; clustering, natural language processing, and decision support; feature selection; image processing; general machine learning; and unsupervised learning.

Forensic DNA Evidence Interpretation

Forensic DNA Evidence Interpretation
Author: John S. Buckleton,Jo-Anne Bright,Duncan Taylor
Publsiher: CRC Press
Total Pages: 496
Release: 2018-09-03
ISBN 10: 1315360128
ISBN 13: 9781315360126
Language: EN, FR, DE, ES & NL

Forensic DNA Evidence Interpretation Book Review:

Now in its second edition, Forensic DNA Evidence Interpretation is the most comprehensive resource for DNA casework available today. Written by leaders in the fields of biology and statistics, including a contribution from Peter Gill, the father of DNA analysis, the book emphasizes the interpretation of test results and provides the necessary formulae in an easily accessible manner. This latest edition is fully updated and includes current and emerging techniques in this fast-moving field. The book begins by reviewing all pertinent biology, and then provides information on every aspect of DNA analysis. This includes modern interpretation methods and contemporary population genetic models available for estimating DNA frequencies or likelihood ratios. Following a chapter on procedures for validating databases, the text presents overviews and performance assessments of both modern sampling uncertainty methods and current paternity testing techniques, including new guidelines on paternity testing in alignment with the International Society for Forensic Genetics. Later chapters discuss the latest methods for mixture analysis, LCN (ultra trace) analysis and non-autosomal (mito, X, and Y) DNA analysis. The text concludes with an overview of procedures for disaster victim identification and information on DNA intelligence databases. Highlights of the second edition include: New information about PCR processes, heterozygote balance and back and forward stuttering New information on the interpretation of low template DNA, drop models and continuous models Additional coverage of lineage marker subpopulation effects, mixtures and combinations with autosomal markers This authoritative book provides a link among the biological, forensic, and interpretative domains of the DNA profiling field. It continues to serve as an invaluable resource that allows forensic scientists, technicians, molecular biologists and attorneys to use forensic DNA evidence to its greatest potential.

Genomic and Personalized Medicine

Genomic and Personalized Medicine
Author: Anonim
Publsiher: Academic Press
Total Pages: 1350
Release: 2012-10-30
ISBN 10: 0123822289
ISBN 13: 9780123822284
Language: EN, FR, DE, ES & NL

Genomic and Personalized Medicine Book Review:

Genomic and Personalized Medicine, Second Edition — winner of a 2013 Highly Commended BMA Medical Book Award for Medicine — is a major discussion of the structure, history, and applications of the field, as it emerges from the campus and lab into clinical action. As with the first edition, leading experts review the development of the new science, the current opportunities for genome-based analysis in healthcare, and the potential of genomic medicine in future healthcare. The inclusion of the latest information on diagnostic testing, population screening, disease susceptability, and pharmacogenomics makes this work an ideal companion for the many stakeholders of genomic and personalized medicine. With advancing knowledge of the genome across and outside protein-coding regions of DNA, new comprehension of genomic variation and frequencies across populations, the elucidation of advanced strategic approaches to genomic study, and above all in the elaboration of next-generation sequencing, genomic medicine has begun to achieve the much-vaunted transformative health outcomes of the Human Genome Project, almost a decade after its official completion in April 2003. Highly Commended 2013 BMA Medical Book Award for Medicine More than 100 chapters, from leading researchers, review the many impacts of genomic discoveries in clinical action, including 63 chapters new to this edition Discusses state-of-the-art genome technologies, including population screening, novel diagnostics, and gene-based therapeutics Wide and inclusive discussion encompasses the formidable ethical, legal, regulatory and social challenges related to the evolving practice of genomic medicine Clearly and beautifully illustrated with 280 color figures, and many thousands of references for further reading and deeper analysis

Heritable Human Genome Editing

Heritable Human Genome Editing
Author: The Royal Society,National Academy of Sciences,National Academy of Medicine,International Commission on the Clinical Use of Human Germline Genome Editing
Publsiher: National Academies Press
Total Pages: 238
Release: 2021-01-16
ISBN 10: 0309671132
ISBN 13: 9780309671132
Language: EN, FR, DE, ES & NL

Heritable Human Genome Editing Book Review:

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.