eBooks
Clinical Genomics: Practical Applications for Adult Patient Care by
Clinical Genomics helps healthcare providers translate the vast amount of new genomic data into successful clinical application. It is a comprehensive textbook and practical guide to the use of this information across a broad spectrum of adult diseases - from individual differences in drug responses, cardiac and cancer risks to Alzheimer's and other neurological and psychiatric disorders. While traditional textbooks on medical genetics focus on classic Mendelian disorders, Clinical Genomics discusses the everyday application of genetic assessment and the diagnostic, therapeutic, and preventive implications to the most common adult diseases that healthcare providers encounter. Covering approximately 200 conditions, it is a true clinical text for use across all of internal medicine. Coverage of each condition is presented in a clinically relevant manner and includes: Key Points Diagnostic Criteria and Clinical Characteristics Screening and Counseling Management and Treatment Molecular Genetics and Molecular Mechanism Supplementary Information More than ten valuable appendices, include Genetic Privacy; Race, Ancestry, and Genetics; Personalized Medicine in Clinical Practice; Clinical Interpretation of Genomic Data; and Genetic Risk Profiling in the Genomics Era. Clinical Genomics is essential for internists, primary care physicians, and other healthcare providers who wish to increase their knowledge of the gene-and-protein level care of patients in a clinical setting.
ISBN: 9780071622448Publication Date: 2013-11-07
Clinical Precision Medicine: a Primer by
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
ISBN: 9780128204023Publication Date: 2019-11-15
Comprehensive Precision Medicine by
Comprehensive Precision Medicine holistically integrates essential and interconnecting disciplines that contribute to the make-up of Precision Medicine as we know it today. Encompassing almost 90 contributions from eminent scholars and professionals, the book's contents are organized across 3 volumes and 7 major subject areas, each representing a key pillar driving the evolution and progression of healthcare delivery. Precision medicine approaches will transform the training and practice of all aspects of professional healthcare delivery, including medicine, nursing, pharmacy, psychology, rehabilitation, and social work. This will be a fundamental reference resource for students, post-graduate trainees, researchers, scientists and clinicians interested in precision medicine. Additionally, this resource will be of interest to regulators, policy makers, and public health practitioners across the globe. Provides comprehensive coverage and is basically a 'one-stop' resource across all disciplines contributing to precision medicine Authoritative guide edited by distinguished authorities who are shaping the advancement of precision medicine Thematically organized, allowing for easy exploration across interconnecting disciplines Digitally innovative resource with multimedia features that complement the text and provide additional learning and teaching resources
ISBN: 9780128242568Publication Date: 2023-11-29
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics:Clinical Principles and Applications, 7th ed. by
For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly.Clinical Principles and Applications thoroughly addresses general methods and approaches to genetic counseling, genetic diagnostics, treatment pathways, and drug discovery. Additionally, new and updated chapters explore the clinical implementation of genomic technologies, analytics, and therapeutics, with special attention paid to developing technologies, common challenges, patient care, and ethical and legal aspects.With regular advances in genomic technologies propelling precision medicine into the clinic, the seventh edition of Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.
ISBN: 9780128125366Publication Date: 2018-11-23
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Foundations, 7th ed. by
For decades, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics has served as the ultimate resource for clinicians integrating genetics into medical practice. With detailed coverage in contributions from over 250 of the world's most trusted authorities in medical genetics and a series of 11 volumes available for individual sale, the Seventh Edition of this classic reference includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies to complete its coverage of this growing field for medical students, residents, physicians, and researchers involved in the care of patients with genetic conditions. This comprehensive yet practical resource emphasizes theory and research fundamentals related to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine more broadly. This volume, Foundations, summarizes basic theories, concepts, research areas, and the history of medical genetics, providing a contextual framework for integrating genetics into medical practice. In this new edition, clinically oriented information is supported by full-color images and expanded sections on the foundations of genetic analytics, next generation sequencing, and therapeutics. With regular advances in genomic technologies propelling precision medicine into the clinic, Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Seventh Edition bridges the gap between high-level molecular genetics and practical application and serves as an invaluable clinical tool for the health professionals and researchers.
ISBN: 9780128125373Publication Date: 2018-11-29
Emery's Elements of Medical Genetics and Genomics, 16th ed. by
Long recognized as a leading textbook in this fast-moving field, Emery's Elements of Medical Genetics and Genomics offers current, complete information with a strong basis in practical clinical genetics and genomics for medical school and beyond. The 16th Edition of this award-winning text has been thoroughly updated throughout and includes case-based and multiple-choice questions, end-of-chapter summaries, an extensive glossary, and convenient online access, making it an ideal choice for all medical undergraduates as well as postgraduates seeking to improve their understanding and knowledge. Includes new case-based studies with questions and answers throughout, in addition to multiple-choice self-assessment questions for study and review. Covers key topics such as pharmacogenetics, personalized medicine, prenatal testing, reproductive genetics, and ethical and legal issues in medical genetics. Divides the text into three easy-to-use sections: The Scientific Basis of Human Genetics, Genetics in Medicine and Genomic Medicine, and Clinical Genetics, Counseling and Ethics Features full-color illustrations and other images that help readers visualize the appearance of genetic disorders and assist with the understanding of complex genetic structures. Contains learning features such as summary boxes, an extensive glossary of terms, online hyperlinks to important genetics websites and clinical databases, and more. Presents the extensive knowledge and experience of distinguished editors Peter D. Turnpenny and Sian Ellard, as well as new editor Ruth Cleaver. Enhanced eBook version included with purchase. Your enhanced eBook allows you to access all of the text, figures, and references from the book on a variety of devices.
ISBN: 9780702079665Publication Date: 2021-01-26
Genetics and Genomics in Medicine, 2d ed. by
The second edition of this textbook written for undergraduate students, graduate students and medical researchers, Genetics and Genomics in Medicine explains the science behind the uses of genetics and genomics in medicine today, and how it is being applied. Maintaining the features that made the first edition so popular, this second edition has been thoroughly updated in line with the latest developments in the field. DNA technologies are explained, with emphasis on the modern techniques that are revolutionizing the use of genetic information in medicine and indicating the role of genetics in common diseases. Epigenetics and non-coding RNA are covered in-depth as are genetic approaches to treatment and prevention, including pharmacogenomics, genetic testing, and personalized medicine. A dedicated chapter charts the latest insights into the molecular basis of cancers, cancer genomics and novel approaches to cancer detection. Coverage of genetic testing at the level of genes, chromosomes and genomes has been significantly expanded and updated. Extra prominence has been given to additional genomic analyses, ethical aspects, and novel therapeutic approaches. Various case studies illustrate selected clinical applications. Key Features Comprehensive and integrated account of how genetics and genomics affect the entire spectrum of human health and disease Exquisite artwork illuminates the key concepts and mechanisms Summary points at the end of each chapter help to consolidate learning For each chapter, an abundance of further reading to help provide the reader with direction for further study Inclusive online question bank to test understanding Standard boxes summarizing certain key principles in genetics Clinical boxes summarizing selected case studies, pathogenesis mechanisms or novel therapies for selected diseases This book is equally suited for newcomers to the field as well as for engineers and scientists that have basic knowledge in this field but are interested in obtaining more information about specific future applications..
Publication Date: 2022-10-31
Genomic and Precision Medicine, 3rd ed. by
Genomic and Precision Medicine: Foundations, Translation, and Implementation highlights the various points along the continuum from health to disease where genomic information is impacting clinical decision-making and leading to more personalization of health care. The book pinpoints the challenges, barriers, and solutions that have been, or are being, brought forward to enable translation of genome based technologies into health care. A variety of infrastructure (data systems and EMRs), policy (regulatory, reimbursement, privacy), and research (comparative effectiveness research, learning health system approaches) strategies are also discussed. Readers will find this volume to be an invaluable resource for the translational genomics and implementation science that is required to fully realize personalized health care.
Publication Date: 2016-12-20
eBooks
Genomic and Precision Medicine: Primary Care, 3rd ed. by
Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners.
Genomics in the Clinic by
Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling illustrates the current scope of the practice of genetics for healthcare professionals, so they can understand principles applicable to genetic testing and consultation. Written by an authoritative well-balanced team, including experienced clinical geneticists, genetic counselors, and medical subspecialists, this book adopts an accessible, easy-to-follow format. Sections are dedicated to basic genetic principles; clinical genetic and genomic testing; prenatal, clinical and cancer genetic diagnosis and counseling; and ethical and social implications in genomic medicine. Over 100 illustrative cases examine a range of prenatal, pediatric and adult genetic conditions and testing, putting these concepts and approaches into practice. Genomics in the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling is important for primary care providers, as patient care evolves in the current genomic-influenced world of precision medicine. Clearly explains central concepts of genetic testing and genomic medicine for non-genetic physicians, healthcare providers, and trainees Offers clear steps for clinical integration of genetic concepts, genomic technology, and interpretation of genetic test results approachable and relevant to clinical practice Descriptive, applied case studies illustrate recommended genetic evaluation, counseling and management for a range of conditions throughout the lifetime
ISBN: 9780128164792Publication Date: 2023-11-04
Genomics of Rare Diseases by
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
ISBN: 9780128204368Publication Date: 2021-06-12
Handbook of Clinical Adult Genetics and Genomics by
Handbook of Clinical Adult Genetics and Genomics: A Practice-Based Approach provides a thorough overview of genetic disorders that are commonly encountered in adult populations and supports the full translation of adult genetic and genomic modalities into clinical practice. Expert chapter authors supplement foundational knowledge with case-based strategies for the evaluation and management of genetic disorders in each organ system and specialty area. Topics discussed include employing genetic testing technologies, reporting test results, genetic counseling for adult patients, medical genetics referrals, issues of complex inheritance, gene therapy, and diagnostic and treatment criteria for developmental, cardiovascular, gastrointestinal, neuropsychiatric, pulmonary issues, and much more. Employs clinical case studies to demonstrate how to evaluate, diagnosis and treat adult patients with genetic disorders Offers a practical framework for establishing an adult genetics clinic, addressing infrastructure, billing, counseling, and challenges unique to adult clinical genetics Features chapter contributions from authors at leading adult genetics institutions in the US and abroad
ISBN: 9780128173459Publication Date: 2020-04-10
Personalized and Precision Medicine Informatics by
This book adopts an integrated and workflow-based treatment of the field of personalized and precision medicine (PPM). Outlined within are established, proven and mature workflows as well as emerging and highly-promising opportunities for development. Each workflow is reviewed in terms of its operation and how they are enabled by a multitude of informatics methods and infrastructures. The book goes on to describe which parts are crucial to discovery and which are essential to delivery and how each of these interface and feed into one-another. Personalized and Precision Medicine Informatics provides a comprehensive review of the integrative as well as interpretive nature of the topic and brings together a large body of literature to define the topic and ensure that this is the key reference for the topic. It is an unique contribution that is positioned to be an essential guide for both PPM experts and non-experts, and for both informatics and non-informatics professionals.
ISBN: 9783030186265
Precision Medicine: a Guide to Genomics in Clinical Practice by
A complete how-to-guide for incorporating precision medicine into any type of practice The Application of Precision Medicine is a practical, succinct, high-yield book for medical professionals who want to learn how genomic medicine can and should be practiced in their specific field of interest. Unlike similar books on the subject, this unique text bypasses the basic science and more advance genetic science, and focuses solely on what a practitioner needs to know on a daily basis. The Application of Precision Medicine follows the course of a human life, beginning before conception through pregnancy, childhood, and adulthood, discussing the current and future applications of genomics and precision medicine at each stage. This organization allows healthcare providers to easily find the information relevant to their practice. A major focus of the book is the inclusion of limitations and potential pitfalls at each stage of life. · Avoids excessive science, focusing on the actual clinical application · Includes glossary of key terms and valuable appendices that provide basic background information
