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.
A Handbook of Clinical Genetics focuses on clinical genetics and the growing demand for genetic counseling. This book begins by introducing issues regarding changes in morbidity and mortality; fall in birth rate; advances in technology and treatment; and complex social changes. Other topics covered include genetic and environmental factors in disease; the genetic code; pedigree information; inheritance patterns; genetic counseling; prenatal diagnosis of genetic disease; special problems; and ethical issues and future developments. The last portion of this text is devoted to a glossary of unfamiliar medical terms, list of recommended books for further research and study, and appendices consist of a case on genetic counseling for Down's syndrome. This handbook is suitable for nurses, medical students, and doctors needing an introduction to clinical genetics.
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
This handbook provides accessible information on specific genetic diseases, and possible genetic components of major diseases, for the primary health care team and junior doctor in training. It assists with why, when, and where to refer patients, and affected families, to get the best advice about genetic disease.
Clinical Genetics: Problems in Diagnosis and Counseling presents the proceedings of the Twelfth Annual New York State Health Department Birth Defects Symposium. The book provides practical information applicable to counseling situations for selected diagnoses and a summary of the limitations of diagnosis and counseling for genetic disorders. The text contains chapters devoted to the description of restriction enzyme site detection and prenatal diagnosis of hemoglobinopathy; counseling for mental retardation of unknown etiology, for idiopathic dysmorphic syndromes, and for psychiatric disorders; interpretation of prenatal cytogenetic diagnosis; preconceptual vitamin supplementation; and cystic fibrosis. Geneticists, clinicians, and physicians will find the book insightful.
Medical Genetics provides medical and biomedical students with an understanding of the basic principles of human genetics as they relate to clinical practice, showing how our genome lies at the heart of our health and well-being.
Named a 2013 Doody's Core Title! REFRESH YOUR GENETIC KNOWLEDGE AND ENHANCE YOUR PATIENT CARE We now know that genetic factors can cause disease or affect an individual's susceptibility or resistance to disorders and even to treatment. To provide the best nursing care, it is therefore essential that practitioners and students have a basic knowledge of the science of genetics and how it affects the major areas of nursing expertise. To address this need, Dr. Felissa Lashley has created this "essentials" guide specifically for nurses. From genetic factors and trends affecting health care today, to the more complex discussions of human variation, every genetic topic critical to the practice of nursing and nursing education is covered, including: Prevention of Genetic Disease Genetic Testing and Treatment Genetic Counseling Maternal-Child Nursing Psychiatric/Mental Health Nursing Community/Public Health Nursing Trends, Policies, and Social and Ethical Issues Each chapter examines how genetic information influences treatment and management and is intended to further the development of a nurse's "genetic eye" in the daily care of patients.
New Clinical Genetics continues to offer the most innovative case-based approach to investigation, diagnosis, and management in genomic medicine. New Clinical Genetics is used worldwide as a textbook for medical students, but also as an essential guide to the field for genetic counselors, physician assistants, clinical and nurse geneticists, and students studying healthcare courses allied to medicine. Readers love the integrated case-based approach which ties the science to real-life clinical scenarios to really aid understanding. Clinical genetics is a fast-moving field and there have been many advances in the few years since the previous edition was published. This 4th edition has been completely updated and revised to reflect new science, new techniques and new ways of thinking. Nowhere is this more clear than in the chapter discussing genetics services which is now significantly expanded to reflect the increasing role of genomic medicine and the use of multidisciplinary teams in the management of patients with genetic disorders. The unique case-based structure and format remains the same, but substantial new material has been added to cover: polygenic risk scores – now starting to become useful clinical service tools preimplantation diagnosis noninvasive prenatal diagnosis companion diagnostics for prescribed drugs liquid biopsies in cancer epigenetics and gene regulation the widespread use of next-generation sequencing as a routine diagnostic tool the checking of a patient’s whole exome for the cause of their problem
