Genetics In Clinical Practice

The book introduces non-specialist readers to the principles and scientific background which have provided insight into the study of human genes and their structure, activity, and role in normal and abnormal protein synthesis. This knowledge leads to clearer understanding of the molecular pathology of disease and to an awareness of potential applications to diagnosis and the development of therapeutic techniques.

Genetics for Healthcare Professionals is an essential textbook of genetics for nurses, midwives, genetic counsellors and doctors. An ideal coursebook for students in the healthcare professions, it is also written for qualified staff seeking an.

Nurses are increasingly being asked to provide information when a genetic diagnosis is made, whether to the individual patient or to members of his or her family. This book provides a comprehensive introduction to present day genetic services, to help professionals feel more confident when dealing with queries or advising where to go for further information. Comprehensive case studies are used to explain the various models of inheritance and explore the possibilities for families, following genetic diagnosis. Family history-taking, risk assessment, basic biology of chromosomes and genes, and laboratory techniques are all described. Issues of ethnicity and ethics are addressed. The book also discusses the development of the role of the genetic nurse counselor.

Preimplantation genetic diagnosis (PGD) is a rapidly advancing field of reproductive genetics. With the significant improvements achieved over the last few years in the understanding of many genetic diseases and in the techniques of molecular genetic testing, new genetic diseases are being added to the list of conditions amenable to PGD almost on a weekly basis. Therefore, the subject of PGD is becoming relevant to a much wider variety of medical disciplines and an increasing number of patients who may wish to know more about this treatment option. This unique book offers a comprehensive yet practical “user-friendly” guide to preimplantation genetic diagnosis (PGD). It provides understanding of and insight into the complete procedure, its recent clinical and laboratory developments and its future prospects, whilst offering an easy point of reference for patient enquiries. Concluding with perspectives on the ethical and social issues often encountered by healthcare professionals counselling patients with regards to PGD. Each chapter within Preimplantation Genetic Diagnosis in Clinical Practice is written by established authorities in their fields. An essential resource for PGD specialists and non-specialists, and for all practitioners working within the disciplines of fertility, reproductive medicine and medical genetics.

Completely updated to help nurses learn to ìthink geneticallyî 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 Environmental susceptibilities Prenatal detection and diagnosis Newborn and genetic screening Reproductive technologies Ethical issues Genetic therapies Epigenetics Content for graduate-level programs PowerPoint slides and a test bank for all student levels Key Features: 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

Advances in genetics and genomics are transforming medical practice, resulting in a dramatic growth of genetic testing in the health care system. The rapid development of new technologies, however, has also brought challenges, including the need for rigorous evaluation of the validity and utility of genetic tests, questions regarding the best ways to incorporate them into medical practice, and how to weigh their cost against potential short- and long-term benefits. As the availability of genetic tests increases so do concerns about the achievement of meaningful improvements in clinical outcomes, costs of testing, and the potential for accentuating medical care inequality. Given the rapid pace in the development of genetic tests and new testing technologies, An Evidence Framework for Genetic Testing seeks to advance the development of an adequate evidence base for genetic tests to improve patient care and treatment. Additionally, this report recommends a framework for decision-making regarding the use of genetic tests in clinical care.

Genetics and Genomics in Medicine is a new textbook written for undergraduate students, graduate students, and medical researchers that explains the science behind the uses of genetics and genomics in medicine today. Rather than focusing narrowly on rare inherited and chromosomal disorders, it is a comprehensive and integrated account of how geneti