Handbook Of Clinical Adult Genetics And Genomics

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

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

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. Fully revised and up-to-date, this new edition introduces genetic researchers, students and healthcare professionals to genomic technologies, testing and therapeutic applications Examines key topics and developing methods within genomic testing and therapeutics, including single gene testing, whole genome and whole exome sequencing, gene therapy and genome editing, variant Interpretation and classification, and ethical aspects of applying genomic technologies Includes color images that support the identification, concept illustration, and method of processing Features contributions by leading international researchers and practitioners of medical genetics Provides a robust companion website that offers further teaching tools and links to outside resources and articles to stay up-to-date on the latest developments in the field

Medical Genetics is the clearest and most concise text on the subject, providing state-of-the-art coverage of clinically relevant molecular genetics. Lynn B. Jorde, PhD; John C. Carey, MD; and Michael J. Bamshad, MD integrate recent developments with clinical practice and emphasize the central principles of genetics and their clinical applications. Now in full color, this edition provides you with the stunning visual clarity so important in this field. Get the very latest on hot topics like gene identification, cancer genetics, gene testing and gene therapy, common diseases, ethical and social issues, personalized medicine, and much more. This is an indispensable resource that should be on every reading list. This title includes additional digital media when purchased in print format. For this digital book edition, media content is not included. . Features mini-summaries, study questions, suggested reading, and a detailed glossary to supplement and reinforce what you learn from the text. Demonstrates clinical relevance through over 230 photographs, illustrations, and tables, along with boxes containing patient/family vignettes. Enhances the visual impact of the material with full-color illustrations throughout the text for easier and more effective learning and retention. Presents a new chapter on genomics and personalized medicine for the latest on these hot topics. Provides you with the latest knowledge and research on gene identification, cancer genetics, gene testing and gene therapy, common disorders, ethical and social issues, and much more so you can keep up with current developments in genetics. Includes study questions at the end of every chapter so you can test yourself and retain the material. Features additional clinically commentary boxes throughout the text to show the relevance of genetics to everyday patient problems to prepare you for problem-based integrated courses.

Based on their extensive experience of clinical work, the authors emphasize the practical issues related to the healthcare of individuals and families. Genetics for the Health Sciencestakes an holistic approach, from preconception to adulthood, and addresses the false notion that clinical genetics is of relevance only to those who are planning a family. The book enables nurses, midwives, genetic counselors and doctors to apply the general principles of genetics in their routine clinical practice. As well as discussing the basic principles, Genetics for the Health Sciencesalso describes the latest technologies and shows how these can be applied to clinical practice. This is an essential text which helps all those in clinical healthcare understand the genetics they need in their professional roles. It is also an ideal coursebook for students in the healthcare professions seeking an understanding of core genetic principles and how these are applied in practice. Reviews: ''The text is a compact, concise presentation of the basic concepts in genetics science and the impact of genetics across the lifespan. The organization of the text increases its usefulness to clinicians as each specialty area could easily locate the information most pertinent to their work...The text is well illustrated throughout, again providing summarized information that is easily accessed. An especially helpful feature of this text is the presence of multiple case studies in each chapter, making this text particularly useful for teaching. I think faculty teaching students in advanced practice nursing programs and allied health courses would find this text a succinct addition to their course. However, I could also see this text being useful in RN preparation curriculum. It could easily be a text that would carry over for several specialty areas and provide additional material specific to genetics in each area. Genetics for Health Sciences: A Handbook for Clinical Healthcare is a welcome addition to the rather sparse choices available for presenting genetics content in clinical practice curriculum. Rebekah Hamilton, ISONG, June 2010 ''Tremendous progress in recent years has shaped the field of medical genetics, which continues to expand to involve almost every aspect of human health. Hence, it is necessary for every healthcare professional to acquire a basic understanding of this science. This is clearly the objective of this well-edited and structured book by Skirton and Patch in its second updated edition. The authors'' considerable experience in genetics, through direct clinical practice in addition to organisational and academic roles, can be appreciated in the practical aspect of their writing. The book starts with useful definitions and alerts the reader to the wide applicability of genetics through clinical cases, raising questions that are answered and discussed when relevant in later chapters. Important aspects of genetic counselling, from basic skills such as risk estimation using family trees to more complex ones related to effective ethical communication with the clients in the light of their needs and the different models of counselling, are then discussed in two chapters. However, given their intrinsic function in medical genetics, these issues are also efficiently tackled in the clinical cases outlined in each chapter. The authors then describe important scientific concepts and techniques that are necessary for a good clinical understanding of genetics. Although this section may seem short, the additional resources provided at the end are very useful. Likewise, for all topics covered in the book, the updated links provided serve as a handy catalogue for the health professional seeking extra information. Next, the concepts and techniques described in the first part of the book are applied directly to common genetic conditions and issues faced by different age groups, from prenatal care to older adulthood in separate chapters. This organisation puts into perspective the importance of genetics in different medical specialities and settings. This book, with its concise yet comprehensive explanation of a complex rapidly growing field, should prove to be a valuable resource for a diverse audience of health professionals, including midwives, nurses and physicians, who confront genetic issues during their daily practice without being specialists in medical genetics.'' Nadine Taleb, Journal of Medical Genetics ''When first asked to write this book review I thought to myself how it would be important to give a rounded report on both the book''s strengths and weaknesses. After reading the book, however, I realised that it is difficult to find weaknesses. The authors, Heather Skirton and Christine Patch, between them have over 30 years of experience in clinical genetics. Their experience of explaining genetics in their professional roles shines through in the way they have written the book. They make complex genetic principles interesting and understandable. The book does not baffle or patronise. The book is easily navigated. It is broken down into clear chapters that are ordered in a pleasingly logical way. The first chapter ''sets the scene'' by introducing the reader to important concepts related to genetic health care including issues such as ethical practice, the different forms of genetic testing and the impact of genetic conditions on families. The next chapters then discuss the family tree, counselling issues, genetic science and public health genetics. The remaining chapters then explore the core topics relating to particular life stages from preconception to older adulthood. It engages the reader from the start when it introduces seven ''core'' families that reappear throughout the book to highlight a number of key issues. The text is peppered with clear illustrations, useful step by step guides, practical checklists, and test yourself sections making the book lively and dynamic. The test yourself sections make the book student friendly and would also make good teaching aids to lecturers and tutors. At the start of the book there is a list of helpful websites and at the end of each chapter there is a list of resources for those who wish to extend their knowledge. One of the main strengths of this book is its refreshingly practical approach. All too often books can be written in a way in which it is difficult for the reader to transfer the knowledge that they have gained into their day-to-day practice. The introduction states that ''the aim of this book is to enable those in healthcare to update their knowledge on topics related to genetics and genomics that have an impact in their daily work and apply it usefully in patient care''. Given the fact that genetics has increasingly become a core component in a number of specialties, one would think that meeting this aim for all would be a tall order. This book however eloquently does so using case examples and key practice points boxes throughout to demonstrate the clinical application of the topic under discussion. Another of the book''s main strengths is the way in which it promotes individualised care by enabling the reader to consider the impact of genetic conditions from the patients'' point of view. Genetics for the Health Sciencesbrings genetics into common healthcare settings. It is highly recommended as an essential text for health care professionals in roles across all specialties. It is also recommended to students, lecturers, social scientists; to anyone who has an interest in genetics and wishes to extend their knowledge. It is a joy to read and could be read from cover to cover.'' Helen Thistlewood, Medical Genetics ''Genetics is at the forefront of medicine and nurses are expected to have a basic understanding of the subject. This handbook is well written and the authors do a good job of making this complex topic understandable. The book lists prenatal, childhood and adult genetic conditions that may involve testing and counselling. Genetic services, types of genetic testing and the impact of genetic conditions on families are discussed in depth, and case studies highlight the emotional and psychological needs of patients and their families. Guidelines for drawing family trees and practical examples of risk assessment are well explained. The perspective of the patient regarding risk and lay knowledge is also considered... All departments should have a copy of this book on their shelves.'' Audrey Ardern-Jones, Nursing Standard

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.

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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 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. Fully revised and up-to-date, this new edition introduces genetic researchers, students, and health professionals to general principles of genetic counseling, genetic and genomic diagnostics, treatment pathways, drug discovery, and the application of genomic technologies, analytics, and therapeutics in clinical practice Examines key topics and developing areas within clinical genomics, including genetic evaluation of patients, clinical trials and drug discovery, genetic health records, cytogenetic analysis, diagnostic molecular genetics, small molecule genetic therapeutics, gene product replacement, clinical teratology, transplantation genetics, and ethical and legal aspects of genomic medicine Includes color images supporting identification, concept illustration, and method processing Features contributions by leading international researchers and practitioners of medical genetics