The Second Edition of The Practical Guide to the GeneticFamily History not only shows how to take a medical-familyhistory and record a pedigree, but also explains why each bit ofinformation gathered is important. It provides essential support indiagnosing conditions with a genetic component. Moreover, it aidsin recommending genetic testing, referring patients for geneticcounseling, determining patterns of inheritance, calculating riskof disease, making decisions for medical management andsurveillance, and informing and educating patients. Based on theauthor's twenty-five years as a genetic counselor, the book alsohelps readers deal with the psychological, social, cultural, andethical problems that arise in gathering a medical-family historyand sharing findings with patients.
Featuring a new Foreword by Arno Motulsky, widely recognized asthe founder of medical genetics, and completely updated to reflectthe most recent findings in genetic medicine, this SecondEdition presents the latest information and methods forpreparing and assessing a pedigree, including:
Value and utility of a thorough medical-family history
Directed questions to ask when developing a medical-familyhistory for specific disease conditions
Use of pedigrees to identify individuals with an increasedsusceptibility to cancer
Verification of family medical information
Special considerations when adoptions or gamete donors areinvolved
Ethical issues that may arise in recording a pedigree
Throughout the book, clinical examples based on hypotheticalfamilies illustrate key concepts, helping readers understand howreal issues present themselves and how they can be resolved.
This book will enable all healthcare providers, includingphysicians, nurses, medical social workers, and physicianassistants, as well as genetic counselors, to take full advantageof the pedigree as a primary tool for making a genetic riskassessment and providing counseling for patients and theirfamilies.
* Using a pedigree to identify individuals with an increasedsusceptibility to cancer
* Family history, adoption, and their challenges
* The connection between the pedigree and assisted reproductivetechnologies
* Making referrals for genetic services
* Neurological and neuromuscular conditions
* Tables covering hearing loss, mental retardation, dementia, andseizures
* Five case studies of genetics in practice
An essential reference for genetics clinics, medical geneticists,and counselors, The Practical Guide to the Genetic Family Historyis also an invaluable aid for both primary care and specialistphysicians who need an up-to-date reference that emphasizes boththe science and art of modern clinical genetics.