Todayís nurses must be able to ìthink geneticallyî to help individuals and families who are affected by genetic disease or contemplating genetic testing. This book is a classic resource for nursing students and practitioners at all levels who need to acquire the knowledge and skills for using genomics in their practice. This completely updated second edition encompasses the many recent advances in genetic research and knowledge, providing essential new information on the science, technology, and clinical application of genomics. It focuses on the provision of individualized patient care based on personal genetics and dispositions. The second edition is designed for use by advanced practice nursing programs, as well as undergraduate programs. It pinpoints new developments in prenatal, maternity, and pediatric issues and supplies new information on genomics-based personal drug therapy, environmental susceptibilities, genetic therapies, epigenetics, and ethics
The text features a practical, clinically oriented framework in line with the core competencies defined by the AACN. It delivers information according to a lifespan approach used in the practice setting. The second edition continues to provide basic information on genomics, its impact on healthcare, and genetic disorders. It covers prevention, genetic counseling and referral, neuropsychiatric nursing, and public health. The core of the text presents information on a variety of diseases that affect patients throughout the lifespan, with specific guidance on the nursing role. Also included are tests for a variety of diseases and information on pharmacogenomics, which enable health care providers to select the best drugs for treatment based on a patientís genetic makeup. Plentiful case study examples support the information throughout. Additionally, an instructorís package of PowerPoint slides and a test bank are provided for use at both the graduate and undergraduate levels.
New to the Second Edition:
Completely updated with several new chapters
Personal drug therapy based on genomics
Prenatal detection and diagnosis
Newborn and genetic screening
Content for graduate-level programs
PowerPoint slides and a test bank for all student levels
Encompasses state-of-the-art genomics from a nursing perspective
Provides a practical, clinically oriented lifespan approach
Covers science, technology, and clinical application of genomics
Addresses prevention, genetic testing, and treatment methods
Written for undergraduate- and graduate-level nursing students
Congenital Malformations is a comprehensive, practical text that highlights key perspectives on the medical management of infants with malformations. With its convenient system-based organization and evidence-based approach, this clinically-focused guide is designed to optimize the utilization of limited diagnostic resources. Easy-to-follow algorithms and tables enable you to rapidly identify and manage the many different malformations that commonly present in clinical practice, such as cleft lip, cardiac septal defects, and skeletal dysplasias.
Features:Succinct, high-yield coverage allows for efficient review of the most common malformations Evidence-based orientation provides up-to-date, clinically relevant diagnostic and treatment recommendations that are based on a meticulous review of the scientific literature Consistent templated format delivers easily accessible information on: Epidemiology/Etiology Clinical Presentation Associated Malformations and Syndromes Evaluation Management and Prognosis Genetic counseling Organized by malformation rather than syndrome - for a clear, easy-to-follow diagnostic guide
Following the success of Genetics for Healthcare Professionals by Skirton and Patch, which was written for practitioners at foundation level, Applied Genetics in Healthcare approaches the issues of genetic healthcare at a more advanced level and is primarily intended as a handbook for those training or working as genetic specialists. However, the book will also be a useful resource for practitioners who specialize in particular fields of healthcare that require knowledge of genetics in specific topics. Those experienced in genetic healthcare will find the book to be a valuable handbook and a source of references for wider reading.
All of the authors have worked extensively in the field of genetic healthcare and have used their experience in both genetics nursing and genetics counseling to create a working handbook that is rooted in clinical practice.
In utero diagnosis has undergone an amazing revolution in recent years. More tests are available; the indications for prenatal diagnosis have expanded - you can now advise your patients about disorders you could not have previously detected. Medical training for obstetricians, medical geneticists, and genetic counselors has not kept pace with these developments. Clinical exposure to common and unusual problems in prenatal diagnosis is limited.
Prenatal Diagnosis: Clinical Cases and Challenges, based on the authors’ several decades of experiences, fills this gap. Real cases portray diagnostic problems as a route to the underlying biology, the available testing options, and the results that might be obtained. The authors discuss the challenges of management, interpretation, and counseling.
Cases used throughout emphasize three types of clinical problems:Chromosomal abnormalities Mendelian disorders Fetal structural abnormalities
The decision to enter the world of prenatal diagnosis should be very carefully considered by any prospective mother. Prenatal Diagnosis: Clinical Cases and Challenges will help you discuss the issues in an informed manner with your patients.
The Second Edition of The Practical Guide to the Genetic Family History not only shows how to take a medical-family history and record a pedigree, but also explains why each bit of information gathered is important. It provides essential support in diagnosing conditions with a genetic component. Moreover, it aids in recommending genetic testing, referring patients for genetic counseling, determining patterns of inheritance, calculating risk of disease, making decisions for medical management and surveillance, and informing and educating patients. Based on the author's twenty-five years as a genetic counselor, the book also helps readers deal with the psychological, social, cultural, and ethical problems that arise in gathering a medical-family history and sharing findings with patients.
Featuring a new Foreword by Arno Motulsky, widely recognized as the founder of medical genetics, and completely updated to reflect the most recent findings in genetic medicine, this Second Edition presents the latest information and methods for preparing and assessing a pedigree, including:
Value and utility of a thorough medical-family history
Directed questions to ask when developing a medical-family history for specific disease conditions
Use of pedigrees to identify individuals with an increased susceptibility to cancer
Verification of family medical information
Special considerations when adoptions or gamete donors are involved
Ethical issues that may arise in recording a pedigree
Throughout the book, clinical examples based on hypothetical families illustrate key concepts, helping readers understand how real issues present themselves and how they can be resolved.
This book will enable all healthcare providers, including physicians, nurses, medical social workers, and physician assistants, as well as genetic counselors, to take full advantage of the pedigree as a primary tool for making a genetic risk assessment and providing counseling for patients and their families.
Comprehensive Cleft Care is a complete clinical reference that addresses every aspect of the life-long care required by patients with orofacial clefting. Supported by a handsome full-color presentation, Comprehensive Cleft Care features heavily-illustrated chapters that provide unmatched coverage of everything from prenatal diagnosis to final orthognathic surgery. The inclusion of topics such as basic science research, mission work, and outcome measures make this an all-in-one clinical companion with coverage that cannot be found anywhere else. With its distinct holistic approach and perspectives from skilled specialists in a variety of disciplines, Comprehensive Cleft Care presents an unmatched overview of cleft repair and management. Volume One of the book covers non-surgical issues including: Embryology, Anatomy, Classification, Epidemiology, and Genetics; Nursing topics, Neuropsychosocial and Educational Aspects, Otologic, Audilogic, and Airway Assessment and Management, Outcomes and Research.
The book takes an holistic family-oriented approach, from preconception to adulthood, and addresses the misconception that clinical genetics is only of relevance to those who are reproducing.
Genetics for Healthcare Professionals is an essential textbook of genetics for nurses, midwives, genetic counselors and doctors. An ideal coursebook for students in the healthcare professions, it is also written for qualified staff seeking an update on current issues and how to apply them in practice.