Genetic Counseling Research: A Practical Guide is the first text devoted to research methodology in genetic counseling. This text offers step-by-step guidance for conducting research, from the development of a question to the publication of findings. Genetic counseling examples, user-friendly worksheets, and practical tips guide readers through the research and publication processes. With a highly accessible, pedagogical approach, this book will help promote quality research by genetic counselors and research supervisors--and in turn, increase the knowledge base for genetic counseling practice, other aspects of genetic counseling service delivery, and professional education. It will be an invaluable resource to the next generation of genetic counseling and its surrounding disciplines.
An essential new text for genetic counseling's most sought-after skills Foundations of Perinatal Genetic Counseling is a practical introduction to the concepts and skills in genetic counseling with clients before and during pregnancy. Authored by genetic counselors at the forefront of contemporary perinatal practice, this all-in-one reference provides an accessible yet comprehensive overview of: - the basics of pregnancy, including assisted reproductive technologies and high-risk pregnancy management - preimplantation and prenatal genetic screening and diagnosis - the structure and goals of a genetic counseling appointment - common clinical scenarios and best-practice approaches Distilling the most pertinent information for new learners and practicing counselors, Foundations of Perinatal Genetic Counseling is an essential companion for both classroom and clinic. Perinatal genetic counselors will find themselves returning to this unique resource long after their training has come to an end.
Helps you develop and assess pedigrees to make diagnoses, evaluate risk, and counsel 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.
'Easy to use, and useful when kept close at hand in the room where you work. The book is a pleasure to read: the style elegant and authoritative.' Lancet '...this book is a wonderful reference to enable primary physicians to be informed about their patients.' Annals of Internal Medicine Universally used across the world by genetic counsellors, medical geneticists and clinicians alike, Practical Genetic Counselling has established itself as the essential guide to counselling those at risk from inherited disorders. Increasingly, common disorders are known to have a genetic component and this book provides invaluable and up to date guidance through the profusion of new information in this area and the associated psychosocial and ethical considerations and concerns. Within its established, tried and trusted framework, the book contains updated information on: developments in common disease genetics, new molecular techniques and genetic counselling, non invasive prenatal diagnosis, the molecular basis of congenital malformations, the history of genetic counselling and the social and ethical aspects of advances in genetics. Key features: - Fully updated to provide the very latest information when in a busy consulting room or clinic - Clear and authoritative advice applicable to everyday clinical practice - Reflects the rapid development of knowledge in this area, including the implications of the human genome project and related technology The seventh edition of this popular, best selling text will continue to be an essential source of reference for trainee and practitioner genetic counsellors, medical geneticists and clinicians. It will provide also valuable background for specialist nurses, counsellors, social scientists, ethicists as well as genetics laboratory staff.
The 2006 third edition of this very successful book provides a comprehensive and practical guide to the diagnosis and management of inherited disorders conferring susceptibility to cancer. Issues discussed include risk assessment, genetic counselling, predictive testing and organisation of a cancer genetics service. A full reference list gives access to background literature. With molecular information, screening guidelines and management advice, this new edition will provide geneticists and clinicians in all disciplines with an invaluable resource for screening, managing and advising patients.
Over the past decade, science has made historic progress in identifying the genetic origins of human development and functioning. From Down syndrome to sickle cell anemia, hereditary cancers to neurologic conditions, genetic tests now exist for dozens of human conditions. Research on the human genome continues apace, and the already considerable demand for genetic counseling services can only intensify as new genetic tests become available. The first book devoted exclusively to the principles and practice of genetic counseling, A Guide to Genetic Counseling prepares genetic counselors and health care providers to meet that demand. Reflecting the experiences and expertise of more than a dozen genetic counseling, medical, and legal professionals, this book defines the theory, goals, and core competencies associated with the practice of genetic counseling. Combining clear step-by-step guidelines with many fascinating and instructive case studies, it tutors readers in the gamut of skills, procedures, and ethical, legal, and psychosocial considerations integral to the genetic counseling process, including: * Obtaining family histories and interviewing clients * Performing medical genetic evaluations * Patient education and psychosocial counseling * Developing multicultural skills * Case preparation and management * Medical documentation * Ethical and legal conduct * Making the most of computer-based resources * Professional development. A Guide to Genetic Counseling belongs on the syllabi of all medical and human genetics and genetics counseling certification programs. It is an indispensable working resource for professional genetic counselors and all health care providers charged with educating patients in genetic diseases.
Publisher: International Specialized Book Service Incorporated
This report examines the appropriateness of state intervention to limit access to medically assisted procreation technologies or to control the use of such technologies; the p̀roblematic' medical aspects of the technologies and the ability of existing social and professional controls to provide adequate public protection (physical and psychological risks, selection, screening and storage standards, success rates, record keeping, and access to medical and genetic information); the need to review, and where necessary, adapt the law to the specific problems connected with the donation and deposit of gametes and embryos (ownership of genetic material and donor liability), and the filiation of the children involved; and the legal aspects of surrogate motherhood and the commercialization of procreation in general (sale of gametes and payments to surrogates).
Institut national de la santé et de la recherche médicale (France)
The first book devoted exclusively to the principles andpractice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counselingquickly became a bestselling and widely recognized text, usednationally and internationally in genetic counseling trainingprograms. Now in its eagerly anticipated Second Edition, itprovides a thoroughly revised and comprehensive overview of geneticcounseling, focusing on the components, theoretical framework, andunique approach to patient care that are the basis of thisprofession. The book defines the core competencies and covers thegenetic counseling process from case initiation tocompletion—in addition to addressing global professionalissues—with an emphasis on describing fundamental principlesand practices. Chapters are written by leaders in the field of geneticcounseling and are organized to facilitate academic instruction andskill attainment. They provide the most up-to-date coverage of: The history and practice of genetic counseling Family history Interviewing Case preparation and management Psychosocial counseling Patient education Risk communication and decision-making Medical genetics evaluation Understanding genetic testing Medical documentation Multicultural counseling Ethical and legal issues Student supervision Genetic counseling research Professional development Genetics education and outreach Evolving roles and expanding opportunities Case examples A Guide to Genetic Counseling, Second Edition belongs onthe syllabi of all medical and human genetics and geneticcounseling training programs. It is an indispensable reference forboth students and healthcare professionals working with patientswho have or are at risk for genetic conditions.
This simple guide to neurogenetics demystifies the overwhelming amount of information on the subject so you can identify key clinical features and understand your management options. Reach relevant differential diagnoses and provide appropriate counseling to your patients using the symptom-based approach. By integrating genetic and neurological approaches to diagnoses, this book ensures that the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis are clear and explicit. Concise and portable, this book is ideal for easy reference in clinical use. Details the underlying basic science and clinical features of genetic disorders by taking a symptom-based approach to provide you with a comprehensive understanding of the field. Focuses on the clinical application of neurogenetics to be of practical use to you in the clinic. Clarifies the neurological consequences of a genetic diagnosis and the genetic consequences of a neurological diagnosis by integrating genetic and neurological approaches to diagnoses. Discusses and evaluates necessary investigations so you know when to use them and when to refer. Highlights diagnostic and therapeutic tips so you can learn new concepts or refine your skills in practice. Refers to online sources, such as Online Mendelian Inheritance in Man (OMIM) and others, to help you supplement your knowledge.