Medical Genetics is the first text to focus on the everyday application of genetic assessment and its diagnostic, therapeutic, and preventive implications in clinical practice. It is intended to be a text that you can use throughout medical school and refer back to when questions arise during residency and, eventually, practice. Medical Genetics is written as a narrative where each chapter builds upon the foundation laid by previous ones. Chapters can also be used as stand-alone learning aids for specific topics. Taken as a whole, this timely book delivers a complete overview of genetics in medicine. You will find in-depth, expert coverage of such key topics as:The structure and function of genes Cytogenetics Mendelian inheritance Mutations Genetic testing and screening Genetic therapies Disorders of organelles Key genetic diseases, disorders, and syndromes
Each chapter of Medical Genetics is logically organized into three sections:Background and Systems – Includes the basic genetic principles needed to understand the medical application Medical Genetics – Contains all the pertinent information necessary to build a strong knowledge base for being successful on every step of the USMLE Case Study Application – Incorporates case study examples to illustrate how basic principles apply to real-world patent care
Today, with every component of health care delivery requiring a working knowledge of core genetic principles, Medical Genetics is a true must-read for every clinician.
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.
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.
A newly expanded Part 1, Basic Principles of Human Genetics, focuses on introducing the reader to key concepts such as Mendelian principles, DNA replication and gene expression. Part 2, Genetics and Genomics in Medical Practice, uses case scenarios to help you engage with current genetic practice.
Now featuring full-color diagrams, Human Genetics and Genomics has been rigorously updated to reflect today’s genetics teaching, and includes updated discussion of genetic risk assessment, “single gene” disorders and therapeutics.
Key learning features include:Clinical snapshots to help relate science to practice ‘Hot topics’ boxes that focus on the latest developments in testing, assessment and treatment ‘Ethical issues’ boxes to prompt further thought and discussion on the implications of genetic developments ‘Sources of information’ boxes to assist with the practicalities of clinical research and information provision Self-assessment review questions in each chapter
Accompanied by the Wiley E-Text digital edition (included in the price of the book), Human Genetics and Genomics is also fully supported by a suite of online resources at www.korfgenetics.com, including:Factsheets on 100 genetic disorders, ideal for study and exam preparation Interactive Multiple Choice Questions (MCQs) with feedback on all answers Links to online resources for further study Figures from the book available as PowerPoint slides, ideal for teaching purposes
The perfect companion to the genetics component of both problem-based learning and integrated medical courses, Human Genetics and Genomics presents the ideal balance between the bio-molecular basis of genetics and clinical cases, and provides an invaluable overview for anyone wishing to engage with this fast-moving discipline.