November 30, 2020

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Genomics in the Clinic

Genomics in the Clinic
Author : Ethylin Wang Jabs,Antonie D. Kline
Publisher : Academic Press
Release Date : 2020-06
Category : Medical
Total pages :200
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Genomics to the Clinic: A Practical Guide to Genetic Testing, Evaluation, and Counseling clearly explains central concepts of clinical genomic medicine and testing for non-geneticist clinicians and healthcare affiliates of various types, including pediatricians, internists, general practitioners, family medicine doctors, obstetricians and gynecologists, oncologists and pharmacists. Readers will learn to make appropriate genetic referrals, prepare patients for genetic consultation and testing results, understand basic genetic testing methods and nomenclature, and become versed in the ethical, legal and psychosocial aspects of genomic medicine. Essential topics include clinical genetic testing, genetic consultation and referrals, ELSI in genomic medicine, genetic diagnosis, and prenatal testing. Descriptive, applied case studies also examine a range of genetic conditions and testing methods, putting these concepts and approaches into practice. With its focus on accessible instruction, full-color imagery, and real-world application, this book prepares clinicians and healthcare providers of all types for a new age of genomic and precision-based medicine. Provides a well-balanced author team, including an experienced clinical geneticist and genetic counselor who cover essential topics in an accessible, easy-to-follow format Includes applied case studies that examine recommended protocols for a range of genetic conditions Makes genetic and genomic concepts, technology, and interpretation of genetic test results approachable and relevant to clinical practice, with clear steps for clinical integration

Handbook of Clinical Adult Genetics and Genomics

Handbook of Clinical Adult Genetics and Genomics
Author : Shweta Dhar,Sandesh Sreenath Chakravarthy Nagamani,Tanya Eble
Publisher : Academic Press
Release Date : 2020-04-10
Category : Science
Total pages :534
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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

Clinical Genomics

Clinical Genomics
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release Date : 2014-11-10
Category : Science
Total pages :488
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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 Genome Sequencing

Clinical Genome Sequencing
Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Release Date : 2019-03-30
Category : Medical
Total pages :258
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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

Genomic Medicine

Genomic Medicine
Author : Dhavendra Kumar,Charis Eng
Publisher : Oxford University Press (UK)
Release Date : 2014
Category : Medical
Total pages :814
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Preceded by Genomics and clinical medicine / edited by Dhavendra Kumar. [First edition]. 2008.

Genetics in the Clinic

Genetics in the Clinic
Author : Mary Briody Mahowald,Victor A. McKusick,Angela Scheuerle,Timothy Aspinwall
Publisher : Mosby Incorporated
Release Date : 2001
Category : Medical
Total pages :304
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GENETICS IN THE CLINIC provides a broad understanding of advances in genetics and their implications for primary care practice. The book begins with basic concepts in genetics, diagnosis and management of genetic disease, cancer genetics, and prenatal testing. Part Two deals with topics relevant to all areas of primary care, such as cultural and ethnic differences, the role of the nurse, and genetic counseling. Part Three addresses ethical or social issues applicable to specific practices. The book's final section considers regulatory matters, including the impact of managed care and insurance and employment issues. Practitioners who are knowledgeable about health care, but who have no special training in genetics, will find this book especially useful as they learn to deal with the clinical, ethical, and social implications of advances in genetics for their practice. Thoroughly explains how to obtain a useful family history, what kind of genetic tests to order and when, how to counsel parents about testing of children, how to counsel for late onset or susceptibility conditions, and how to identify those for whom cancer risk or other risk testing is appropriate. Expert perspectives on disability, ethnic, gender, and class differences, reflecting the wide variety of patients seen by today's practitioners. Glossary of genetic terms and extensive bibliography of print and electronic sources - useful for clinicians who want to update their practice or for explaining complex terminology to patients. Dr. McKusick is world-renowned for his expertise in the field of human genetics and specific genetic conditions. Contributors have been trained in various areas of primary care: obstetrics, paediatrics, family medicine, internal medicine, and nursing

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics
Author : Reed E. Pyeritz,Bruce R. Korf,Wayne W. Grody
Publisher : Academic Press
Release Date : 2020-11-01
Category : Medical
Total pages :790
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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. Wholly revised and up-to-date, this volume thoroughly addresses medical genetics and genomics as applied to metabolic disorders, with emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches, and treatment methods Provides genetic researchers, students, and health professionals with up-to-date coverage on the genetic basis of a range of metabolic disorders, including 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 Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics A robust companion website offers lecture slides, image banks, and links to outside resources and articles to stay up-to-date on the latest developments in the field

Cardiovascular Genetics and Genomics in Clinical Practice

Cardiovascular Genetics and Genomics in Clinical Practice
Author : Donna K. Arnett, PhD,Sanjiv J. Shah, MD
Publisher : Demos Medical Publishing
Release Date : 2014-11-10
Category : Medical
Total pages :246
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Weighted Numerical Score: 100 - 5 Stars! This is a systematic guide to cardiovascular genetics and genomics from basic concepts to clinical application. It organizes a large volume of information from an active area of research, which holds promise for future discovery. --Doody's Reviews Cardiovascular Genetics and Genomics in Clinical Practice presents clinical cases to illuminate basic concepts of cardiovascular genetics and genomics as practitioners encounter them in day-to-day practice. The unique use of real-world case discussions facilitates the memorization and understanding of basic principles, which can be more readily applied to actual cases. Cardiovascular Genetics and Genomics in Clinical Practice features a step-by-step learning process that begins with an easy-to-understand "primer" of basic scientific concepts regarding cardiovascular genetics and genomics followed by state-of-the-art research and applications for treatment of cardiovascular disorders. Expert clinicians and researchers describe illustrative cases for each topic along with detailed discussions of current scientific understanding and its application in current disease management and treatment. Summaries, key teaching points, and illustrations are highlighted to facilitate quick recall and review. The book will be useful for cardiovascular clinicians in training, board preparation, or as a review for those already in clinical practice. Cardiovascular Genetics and Genomics in Clinical Practice features: Clinical case scenarios to illuminate the basic concepts of cardiovascular genetics and genomics as they are used in daily practice Explanation of fundamental concepts as a foundation for more in-depth understanding Detailed discussions of current scientific knowledge and clinical management The expertise of renowned clinician-scientists in the field Real practical insight for practice

Clinical Genome Sequencing

Clinical Genome Sequencing
Author : Aad Tibben,Barbara B. Biesecker
Publisher : Academic Press
Release Date : 2019-03-30
Category : Medical
Total pages :258
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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

Oxford Desk Reference

Oxford Desk Reference
Author : Helen V. Firth,Jane A. Hurst,Judith G. Hall
Publisher : Oxford University Press, USA
Release Date : 2005
Category : Medical
Total pages :708
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Judith G. Hall is a 2011 Fellow of The Royal Society of Canada. The first in a brand new series of easy-to-use guides, this book is set to become the bible for clinical consultation in genetics. It covers the process of diagnosis, investigation, management, and counselling for patients. Most of the topics fit onto a double-page spread ensuring that the book is an accessible, quick reference for the clinic or hospital consultation. Where available, diagnostic criteria for specific conditions are included as well as contact details for support groups. The book is well illustrated and has an up-to-date bibliography and glossaries of terms used in genetics and dysmorphology. The authors have used their experience to devise a practical clinical approach to many common genetic referrals, both out patient and ward based. The most common Mendelian disorders, chromosomal disorders, congenital anomalies and syndromes are all covered. In addition there are chapters on familial cancer and pregnancy-related topics such as foetal anomalies, teratogens, prenatal and pre-implantation diagnosis. The book also provides information on the less common situations, where management is particularly complex, or important genetic concepts are illustrated.

Genomics in Rheumatic Diseases, An Issue of Rheumatic Disease Clinics of North America, E-Book

Genomics in Rheumatic Diseases, An Issue of Rheumatic Disease Clinics of North America, E-Book
Author : S. Louis Bridges, Jr.,Carl D. Langefeld
Publisher : Elsevier Health Sciences
Release Date : 2017-08-01
Category : Medical
Total pages :129
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This issue of Rheumatic Disease Clinics focuses on Genetics. Article topics cover: Genetic Influences on Susceptibility and Severity of Rheumatoid Arthritis; HLA-disease associations in rheumatoid arthritis; Autoinflammatory Syndromes as a Model of Monogenic Diseases; Genomic Influences on Hyperuricaemia and Gout; Genetics of Systemic Lupus Erythematosus; Genetics of Ankylosing Spondylitis;Genetics of Scleroderma; Genetics of Osteoarthritis; Genetics of Juvenile Inflammatory Arthritis; Genetic Influences on Treatment Response in Rheumatic Diseases; Integrative approaches/computational biology; Future directions of genetic research in rheumatic diseases; and Population genetics and natural selection in rheumatic disease.

Clinical Genomics

Clinical Genomics
Author : Shashikant Kulkarni,John Pfeifer
Publisher : Academic Press
Release Date : 2014-11-10
Category : Science
Total pages :488
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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

Routledge Handbook of Genomics, Health and Society

Routledge Handbook of Genomics, Health and Society
Author : Sahra Gibbon,Barbara Prainsack,Stephen Hilgartner,Janelle Lamoreaux
Publisher : Routledge
Release Date : 2018-04-17
Category : Science
Total pages :316
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The Handbook provides an essential resource at the interface of Genomics, Health and Society, and forms a crucial research tool for both new students and established scholars across biomedicine and social sciences. Building from and extending the first Routledge Handbook of Genetics and Society, the book offers a comprehensive introduction to pivotal themes within the field, an overview of the current state of the art knowledge on genomics, science and society, and an outline of emerging areas of research. Key themes addressed include the way genomic based DNA technologies have become incorporated into diverse arenas of clinical practice and research whilst also extending beyond the clinic; the role of genomics in contemporary ‘bioeconomies’; how challenges in the governance of medical genomics can both reconfigure and stabilise regulatory processes and jurisdictional boundaries; how questions of diversity and justice are situated across different national and transnational terrains of genomic research; and how genomics informs – and is shaped by – developments in fields such as epigenetics, synthetic biology, stem cell, microbial and animal model research. Presenting cutting edge research from leading social science scholars, the Handbook provides a unique and important contribution to the field. It brings a rich and varied cross disciplinary social science perspective that engages with both the history and contemporary context of genomics and ‘post-genomics’, and considers the now global and transnational terrain in which these developments are unfolding.

Genomic and Personalized Medicine

Genomic and Personalized Medicine
Author : Anonim
Publisher : Academic Press
Release Date : 2012-10-30
Category : Science
Total pages :1350
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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

Genomic Medicine in Emerging Economies

Genomic Medicine in Emerging Economies
Author : George Patrinos,Catalina Lopez-Correa
Publisher : Academic Press
Release Date : 2018-06-29
Category : Science
Total pages :204
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Genomic Medicine in Resource-limited Countries: Genomics for Every Nation provides in-depth analysis and key examples of the implementation of medical genomics in low-income nations across the globe, demonstrating how this advancing medical science has not only transformed health systems, but also led to improved patient care in Indonesian, Nepalese, Chilean, Malaysian, Tanzanian, Argentinian, Chinese, Sri Lankan and Columbian populations, among others. In addition to defining tools, diagnostics and treatment pathways at the population-wide level for medical geneticists, genomic researchers and public health workers, this book offers a case-study based approach that helps users understand how genomic medicine is used in disease-management. Examines essential concepts and protocols, and economic, social and legal considerations related to the implementation of genomic medicine in resource-limited nations Features concrete success stories of the implementation of medical genomics in Indonesian, Nepalese, Chilean, Malaysian, Tanzanian, Argentinian, Chinese, Sri Lankan and Columbian populations, amongst others Provides tools, diagnostics and treatment pathways for medical geneticists, genomic researchers and public health workers to apply in their own work Establishes clear precedents on how genomic technologies can be accessed by nations with limited means and financial support for healthcare