Genetic Counseling

The process of genetic counseling involves many key components, such as taking a family genetic history, making a diagnosis, and providing communication and support to the family. Among these core processes is the mathematical calculation of the actual risk of a possible genetic disorder.For most physicians and counselors, the mathematics and statistics involved can be major challenge which is not always helped by complex computer programs or lengthy papers full of elaborate formulae. In this clear, reader-friendly guide, Ian Young addresses this problem and demonstrates how riskcan be estimated for inherited disorders using a basic knowledge of the laws of probability and their application to clinical problems. The text employs a wealth of clearly explained examples and key points in order to guide the reader to an accurate assessment of the risk of genetic disease. Itprimarily will appeal to genetic counselors, geneticists, and all those involved in providing medical genetic services. In this new edition, Dr. Young has pruned redundancies and extensively updated the concepts in each of the 10 chapters, and he has included more working examples, a popularfeature of the book.

Dr. Harold Chen shares his almost 50 years of clinical genetics practice in this new edition of a comprehensive pictorial atlas, featuring almost 290 genetic disorders, malformations, and malformation syndromes. The author provides a detailed outline for each disorder, describing its genetics, basic defects, clinical features, diagnostic tests, and counseling issues, including recurrence risk, prenatal diagnosis, and management. Numerous color photographs of prenatal ultrasounds, imagings, cytogenetics, and postmortem findings illustrate the clinical features of patients at different ages, patients with varying degrees of severity, and the optimal diagnostic strategies. The disorders cited are supplemented by case histories and diagnostic confirmation by cytogenetics, biochemical, and molecular techniques, when available. Since the publication of the previous edition in 2012, the atlas has been widely accepted and used in light of rapid progress in genetic and gnomic information. In this new edition, additional genetic disorders are added, as well as extensive updates to the previous disorders with new illustrations, supplemented by case and family history, clinical features, and laboratory data, especially molecular confirmation if available. The atlas is written in outline format for ease of use. Atlas of Genetic Diagnosis and Counseling, Third Edition is of great value to medical geneticists, genetic counselors, pediatricians, neonatologists, developmental pediatricians, perinatologists, obstetricians, neurologists, pathologists, and any physicians and health care professionals caring for handicapped children such as craniofacial surgeons, plastic surgeons, otolaryngologists, and orthopedists. It is the definitive volume for helping all physicians to understand and recognize genetic diseases and malform ation syndromes and better evaluate, counsel, and manage affected patients.

Knowledge of the genetic basis of human diseases is growing rapidly, with important implications for pre-conceptional, prenatal, and predictive testing. While new genetic testing offers better insight into the causes of and susceptibility for heritable diseases, not all inherited diseases thatcan be predicted on the basis of genetic information can be treated or cured. Should we test everyone who wants to know his or her genetic status, even when there are no possibilities for treatment? What is the role of the "right-not-to-know?" Do we test children for adult onset disorders becausethe parents just "have to know" or do we respect the children's right to choose when they are older? Do we allow commercial companies to offer genetic tests directly to consumers without the proper oversight regarding what the test results will mean?By using a creative approach that focuses on a single extended family as a case example to illustrate each chapter's key point, the authors elucidate ethical issues arising in the genetics clinic and laboratory surrounding many timely issues, including:* prenatal and pre-implantation genetic diagnosis* assisted reproductive technologies* incidental findings in genetic testing* gene patenting* testing children for adult onset disorders* direct to consumer testingEthical Dilemmas in Genetic Counseling: Principles through Case Scenarios is essential reading for anyone interested in the ethical issues surfacing in common genetics practice. Written exclusively by genetic counselors, it makes a significant contribution to the field of ethics in genetics and thuswill appeal not only to genetic counselors but to physicians, nurses, and all those concerned with bioethics and social science.

Important scientific discoveries and ever-changing guidelines for how to identify and manage patients with hereditary cancer syndromes are constantly evolving. This Third Edition of Counseling About Cancer is completely updated and expanded to feature five entirely new chapters on breast cancer, colon cancer, other solid tumors, clients and families, and genetic test results and follow-up. This is the only reference and clinical book on the market for cancer genetics counselors and other healthcare providers who must quickly assimilate complex and ever-changing data on the hereditary risk for cancer.

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.

The adult patient diagnosed with or at risk for a neurogenetic disease has many questions and concerns for the genetic counselor, the neurologist, and other practitioners. Because of the emotional and potentially life-altering impact of these diseases on the patient and family, counseling can be especially challenging. A rare hands-on guide to the subject, Genetic Counseling for Adult Neurogenetic Disease deals with core issues that differentiate adult neurogenetic counseling from its more familiar pediatric counterpart. This innovative book with accompanying videos is designed to fill in deficits in this area typical of training programs in genetic counseling (which have pediatrics and prenatal concentrations) and neurology (which rarely cover genetic counseling). For each condition featured, chapters include a detailed overview of genetic symptoms, diagnostic criteria, and management, plus guidelines for asking, and answering, pertinent questions. The major concentration, however, is on genetic counseling issues and case histories illustrating these issues. As an added dimension, the accompanying videos depict representative issues and challenges in genetic counseling for specific diseases in addition to the basics of a neurological examination. Among the conditions discussed: Movement disorders, including Parkinson's disease. Dementias, including Alzheimer's disease. Stroke. Motor neuron diseases. Neuropathies and channelopathies. Adult muscular dystrophies. Neurocutaneous syndromes. Plus a section on neurological and neuropsychological evaluation. This is information that will stay relevant as technologies change and genetic understanding evolves. Genetic Counseling for Adult Neurogenetic Disease offers advanced clinical wisdom for genetic counselors as well as neurologists, neuropsychologists, and other referring clinicians.

Familiar sciences of biology, physics, chemistry, cybernetics, and computational methods for dealing with vast new data sets of information at molecular and sub-molecular levels are morphing into new sciences. Some exist beneath our line of sight where laws of nature hover between Newtonian and quantum mechanics. New fields of cyber-, bio-, nanotechnology and systems biology raise arcane new concepts. The completed human genome has led to an explosion of interest in genetics and molecular biology. The view of the genome as a network of interacting computational components is well established and here writers explore it in new ways. These systemic approaches are timely in light of the availability of an increasing number of genomic sequences, and the generation of large volumes of biological data by high-throughput methods. Suitable for two-semesters of study, the works surveys genomics principles in the 13 chapters of Vol I, and networks and models in the 14 chapters of Vol II. Both, as a two-book set, will serve as core foundation titles for Dennis Shasha's Series in Systems Biology, establishing the principles and challenges for this emerging field of study.; In each chapter world-renowned experts trail-blazing in their respective fields will review corresponding topics as well as current and planned research. Chapters will treat the integrated study and analysis of biological systems by use of data and information about the system components in their entirety, as opposed to the study of individual components in isolation. Systems Biology courses are popping up all over the place and biology, computer science, and bioinformatics programs are the primary potential takers. The editors plan books for a very wide audience, at the same time providing a comprehensive repository of up-to-date overviews and predictions for a number of inter-related sub-fields within this hierarchy. Intended readers include graduate students plus academic and professional researchers of genomics, bioinformatics, molecular biology, biochemistry, bioengineering, and computer systemic approaches to those fields. By comparison, Shasha's first Systems Biology Series title, Amos's Cellular Biology, is a book for technologists using biology as a vehicle to do something else, whereas this is a book about systems and related technologies in service to biologists.; The volume editors plan to review or have reviewed, and to edit the invited chapters for content and consistent conceptual level, each chapter contributing uniquely to the key aspects of the Systems Biology hierarchy. A few chapter contents may date after two years, but the majority will endure for longer-term reference use because they treat methodologies and provide sample applications.