Genomic and Precision Medicine by Geoffrey S. Ginsburg (Editor); Huntington F. Willard (Editor), 2017
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. Provides a comprehensive volume on the translation and implementation of biology into health care provision Presents succinct commentary and key learning points that will assist readers with their local needs for translation and implementation Includes an up-to-date overview on major 'translational events' in genomic and personalized medicine, along with lessons learned
Precision Medicine : a Guide to Genomics in Clinical Practice by Jeanette J. McCarthy; Bryce A. Mendelsohn, 2017
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
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Clinical Genomics by Michael T. Murray; Mark Babyatski; Monica A. Giovanni, 2014
Convert the latest genomic data to the most effective patient management and treatment approaches 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 andcancer 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 preventiveimplications 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 consistent,clinically relevant manner and includes: Key Points Diagnostic Criteria and Clinical Characteristics Screening and C ounseling 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 Interpretationof 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.
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, 2020 by Reed E. Pyeritz (Editor); Bruce R. Korf (Editor); Wayne W. Grody (Editor), 2020
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition 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. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions.
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Clinical Principals and Applications by Reed E. Pyeritz (Editor); Bruce R. Korf (Editor); Wayne W. Grody (Editor), 2019
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.
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics : Foundations by Reed E. Pyeritz (Editor); Bruce R. Korf (Editor); Wayne W. Grody (Editor), 2019
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.
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics : Metabolic Disorders, Seventh ed. by Reed E. Pyeritz (Editor); Bruce R. Korf (Editor); Wayne W. Grody (Editor), 2021
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 nearly 5,000 pages of detailed coverage, 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. In Metabolic Disorders, leading physicians and researchers thoroughly examine medical genetics as applied to a range of metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and therapeutics that make use of current genomic technologies and translational studies. Here genetic researchers, students, and health professionals will find new and fully revised chapters on the genetic basis of body mass, amino acid, carbohydrate, iron, copper, lipo protein, and lipid metabolic disorders, as well as organic acidemias, fatty acid oxidation, and peroxisome disorders among others. 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 health professionals and researchers.
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics by Reed E. Pyeritz (Editor); Bruce R. Korf (Editor); Wayne W. Grody (Editor), 2021
Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Perinatal and Reproductive Genetics, Seventh Edition 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 in this growing field. The book is ideal 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. Chapters from leading international researchers and clinicians focus on topics ranging from single gene testing to whole genome sequencing, whole exome sequencing, gene therapy, genome editing approaches, FDA regulations on genomic testing and therapeutics, and ethical aspects of employing genomic technologies.
Emery's Elements of Medical Genetics and Genomics, 16th ed. by Peter D. Turnpenny; Sian Ellard; Ruth Cleaver, 2021
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.
GeneReviews | NCBI
Collection of journal-style, expert-authored and peer-reviewed content with descriptions for heritable diseases and conditions
Genomic and Precision Medicine. Cardiovascular Disease by Geoffrey S. Ginsburg (Editor); Huntington F. Willard (Editor), 2018
Genomic and Precision Medicine: Cardiovascular Disease, Third Edition, focuses on the applications of genome discovery on the broad spectrum of cardiovascular disorders. Each chapter is organized for the application of genomics and personalized medicine tools and technologies to a) Risk Assessment and Susceptibility, b) Diagnosis and Prognosis, c) Pharmacogenomics and Precision Therapeutics, and d) Emerging and Future Opportunities in the field. Presents a comprehensive volume written and edited by cardiovascular genomic specialists Covers succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine into practice Provides an overview on major opportunities for genomic and personalized medicine in practice Includes case studies that highlight the practical use of genomics in the management of patients
Genomic and Precision Medicine. Primary Care, Third ed. by Geoffrey S. Ginsburg (Editor); Huntington F. Willard (Editor); Sean P. David (Editor), 2018
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. Presents a comprehensive volume for primary care providers Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine Includes a current overview on major opportunities for genomic and personalized medicine in practice Highlights case studies that illustrate the practical use of genomics in the management in patients