Introduction to Risk Calculation in Genetic Counseling


Book Description

In third edition of this clear, reader-friendly guide, the author addresses the challenge of calculations in genetic counseling and demonstrates how risk can 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.




Introduction to Risk Calculation in Genetic Counselling


Book Description

Genetic counselling is widely accepted as an integral part of the management of every patient with an inherited disorder. This book describes in detail how risks can be estimated or calculated for most counselling situations, using nothing more complex than a knowledge of the simple laws of probability and a pocket calculator. All patterns of inheritance are considered. Particular attention is paid to the segregation of balanced chromosome rearrangements and risk calculation in single gene inheritance taking into account factors such as reduced penetrance, late age of onset, consanguinity and the extended family. The use of linked markers -- an area of rapidly increasing importance in carrier detection and prenatal diagnosis -- is also covered at length. The text has been written in a straightforward, "user-friendly" style with liberal use of worked examples and will be of benefit to everyone involved in the provision and delivery of genetic counselling services.




Genetic Counseling Practice


Book Description

The second edition of Genetic Counseling Practice: Advanced Concepts and Skills, provides in-depth content regarding the advanced competencies for meeting patient needs across the changing landscape of genetic counseling practice. The content aligns with the Reciprocal Engagement Model (REM) of practice which integrates the biomedical knowledge and psychosocial aspects of genetic counseling. This edition has been revised and expanded to reflect advances made in the present-day field. Edited by a team two genetic counselors and a psychologist, the chapters offer a holistic picture of genetic counseling. Chapter authors are all recognized experts in the profession. The chapters are grounded in evidence-based practice and research. Each chapter includes learning activities to help readers apply concepts and skills. Featured topic areas include: Meeting the needs of culturally diverse patients Addressing challenging patient dynamics Working with children, adolescents and families Using emerging service delivery models for genetic counseling Engaging in self-reflective, deliberate practice Promoting genetic counselor professional development Genetic Counseling Practice is an indispensable guide to the complex and evolving field of genetic counseling, and this updated second edition will help practitioners and trainees alike navigate its most pressing and practical challenges with skill and care.




Chromosome Abnormalities and Genetic Counseling


Book Description

Advances in cytogenetics continue to crop up in wonderful ways, and we know exponentially more about chromosomes now than mere decades ago. Likewise, the necessary skills in offering genetic counseling continue to evolve. This new edition of Chromosome Abnormalities in Genetic Counseling offers a practical, up-to-date guide for the genetic counselor to marshal cytogenetic data and analysis clearly and effectively to families.




Practical Genetic Counseling for the Laboratory


Book Description

This is an essential manual for the future of genetic counselling. It codifies the theory and practice of laboratory genetic counselling in an accessible and comprehensive format. With contributions from laboratorians, geneticists, and genetic counsellors from more than 30 institutions, it offers a manual of standards and practices that will benefit students and counsellors at any career stage







A Guide to Genetic Counseling


Book Description

The first book devoted exclusively to the principles and practice of genetic counseling—now in a new edition First published in 1998, A Guide to Genetic Counseling quickly became a bestselling and widely recognized text, used nationally and internationally in genetic counseling training programs. Now in its eagerly anticipated Second Edition, it provides a thoroughly revised and comprehensive overview of genetic counseling, focusing on the components, theoretical framework, and unique approach to patient care that are the basis of this profession. The book defines the core competencies and covers the genetic counseling process from case initiation to completion—in addition to addressing global professional issues—with an emphasis on describing fundamental principles and practices. Chapters are written by leaders in the field of genetic counseling and are organized to facilitate academic instruction and skill 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 on the syllabi of all medical and human genetics and genetic counseling training programs. It is an indispensable reference for both students and healthcare professionals working with patients who have or are at risk for genetic conditions.




Genomics and Health in the Developing World


Book Description

Genomics and Health in the Developing World provides detailed and comprehensive coverage of population structures, human genomics, and genome variation--with particular emphasis on medical and health issues--in the emerging economies and countries of the developing world. With sections dedicated to fundamtals of genetics and genomics, epidemiology of human disease, biomarkers, comparative genomics, developments in translational genomic medicine, current and future health strategies related to genetic disease, and pertinent legislative and social factors, this volume highlights the importance of utilizing genetics/genomics knowledge to promote and achieve optimal health in the developing world. Grouped by geographic region, the chapters in this volume address: - Inherited disorders in the developing world, including a thorough look at genetic disorders in minority groups of every continent - The progress of diagnostic laboratory genetic testing, prenatal screening, and genetic counseling worldwide - Rising ethical and legal concerns of medical genetics in the developing world - Social, cultural, and religious issues related to genetic diseases across continents Both timely and vastly informative, this book is a unique and comprehensive resource for genetists, clinicians, and public health professionals interested in the social, ethical, economic, and legal matters associated with medical genetics in the developing world.







Calculated Risks


Book Description

At the beginning of the twentieth century, H. G. Wells predicted that statistical thinking would be as necessary for citizenship in a technological world as the ability to read and write. But in the twenty-first century, we are often overwhelmed by a baffling array of percentages and probabilities as we try to navigate in a world dominated by statistics. Cognitive scientist Gerd Gigerenzer says that because we haven't learned statistical thinking, we don't understand risk and uncertainty. In order to assess risk -- everything from the risk of an automobile accident to the certainty or uncertainty of some common medical screening tests -- we need a basic understanding of statistics. Astonishingly, doctors and lawyers don't understand risk any better than anyone else. Gigerenzer reports a study in which doctors were told the results of breast cancer screenings and then were asked to explain the risks of contracting breast cancer to a woman who received a positive result from a screening. The actual risk was small because the test gives many false positives. But nearly every physician in the study overstated the risk. Yet many people will have to make important health decisions based on such information and the interpretation of that information by their doctors. Gigerenzer explains that a major obstacle to our understanding of numbers is that we live with an illusion of certainty. Many of us believe that HIV tests, DNA fingerprinting, and the growing number of genetic tests are absolutely certain. But even DNA evidence can produce spurious matches. We cling to our illusion of certainty because the medical industry, insurance companies, investment advisers, and election campaigns have become purveyors of certainty, marketing it like a commodity. To avoid confusion, says Gigerenzer, we should rely on more understandable representations of risk, such as absolute risks. For example, it is said that a mammography screening reduces the risk of breast cancer by 25 percent. But in absolute risks, that means that out of every 1,000 women who do not participate in screening, 4 will die; while out of 1,000 women who do, 3 will die. A 25 percent risk reduction sounds much more significant than a benefit that 1 out of 1,000 women will reap. This eye-opening book explains how we can overcome our ignorance of numbers and better understand the risks we may be taking with our money, our health, and our lives.