Practical Guide to the Genetic Family History / Edition 1

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"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." "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." "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 contains black-and-white illustrations.

The underlying goal of the Human Genome Project is the improvement of human health; thus we must begin to bring this vital information to the ultimate implementers of this technology:the health care provider. Bennett's book highlights the one aspect of genetics that the physician can easily and quickly incorporate into daily practice for a maximum return. In the era of managed care, the PCP must be selective about which patients are truly in need of specialty medical services such as genetic testing and counseling. Thus, this book will appeal to physicians and health care providers from a wide range of specialties. Books dealing with family histories have been published for the lay audience; nothing has been published to guide those who must actually gather and interpret this medical information.

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Editorial Reviews

Human Genetics
this is a unique extremely practical handbook that should have a wide application.
Outlines methods for taking and recording a patient's family medical history, allowing primary care physicians to be more efficient in diagnosing conditions with potential genetic components. Provides a basic foundation in human genetics necessary to recognize inherited disorders and familial disease susceptibility, and shows how to create a family pedigree. Also covers making referrals for genetic services, what to expect from a genetics consultation, and how to obtain medical records and death certificates. Includes sample forms, a list of Internet resources, and five case studies. Annotation c. Book News, Inc., Portland, OR
From the Publisher
"In conclusion, this book is an invaluable resource which will enable clinical geneticists, counsellors, primary care and specialist physicians, as well as nurses, medical social workers, and physician assistants to take full advantage of the information and strategies provided. This will enable them to prepare and establish a family pedigree as a primary tool for making a genetic risk assessment and providing counselling for patients and their families." (Sultan Qaboos University Medical Journal, December 2010)
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Product Details

  • ISBN-13: 9780471251545
  • Publisher: Wiley, John & Sons, Incorporated
  • Publication date: 4/7/1999
  • Edition description: Older Edition
  • Edition number: 1
  • Pages: 272
  • Product dimensions: 9.00 (w) x 6.00 (h) x 0.61 (d)

Meet the Author

Robin L. Bennett has been a genetic counselor in the genetics clinic at the University of Washington Medical Center for over 20 years. She has proven and award-winning expertise in helping patients, families, and her colleagues at all levels deal with the multitude of practical, logistical, psychological, and diagnostic issues that are a day to day part of genetic counseling.

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Table of Contents

Illustrations and Tables
1 The Language of the Pedigree 1
2 Practical Inheritance 13
3 Getting to the Roots: Recording the Family Tree 38
4 Directed Medical-Genetic Family History Queries: Separating the Trees from the Forest 68
4.1 The Approach 68
4.2 Physical Birth Anomalies and Variants 71
4.3 Deafness/Hearing Loss 83
4.4 Vision Impairment 88
4.5 Mental Retardation 92
4.6 Autism 99
4.7 Neurological and Neuromuscular Disorders 100
4.8 Seizures 102
4.9 Dementia 104
4.10 Mental Illness 106
4.11 Disorders Involving the Cardiac System 107
4.12 Chronic Respiratory Disease 111
4.13 Renal Disorders 112
4.14 Skeletal Anomalies and Disorders of Short Stature 115
4.15 Diabetes 119
4.16 Reproductive Failure, Infertility, and Multiple Miscarriages 120
4.17 Sudden Infant Death Syndrome 123
5 Using a Pedigree to Recognize Individuals with an Increased Susceptibility to Cancer 129
6 Medical Verification of a Family History 145
7 The Challenge of Family History and Adoption 154
8 The Pedigree and Assisted Reproductive Technologies 160
9 Making a Referral for Genetic Services: Where to Turn and What to Expect 166
10 Pedigree Predicaments 173
Glossary 181
App. A.1 Handy Reference Tables of Pedigree Nomenclature 191
App. A.2 Sample Clinical Pedigree Form 194
App. A.3 Sample Genetic Screening Form for Familial Cancer Risk Assessment 196
App. A.4 Sample Adoption Medical-Family History Form 199
App. A.5 The Genetics Library 212
App. A.6 Genetics in Practice: Five Case Studies 225
Index 239
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