The Practical Guide to the Genetic Family History: Edition 2

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Helps you develop and assess pedigrees to make diagnoses,evaluate risk, and counsel patients

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.

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About 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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Additional Information

John Wiley & Sons
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Published on
Sep 20, 2011
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Medical / General
Medical / Genetics
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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


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.

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The Practical Guide to The Genetic Family History Robin L. BennettCompiling the most recent genetic developments in medicalspecialties, The Practical Guide to the Genetic Family History is avaluable resource which outlines the proper methods for taking andrecording a patient's family medical history, allowing primary carephysicians to be more efficient in diagnosing conditions withpotential genetic components. With genetic screening forms, anoverview of directed questions, pedigree nomenclature, andoutlining common approaches used, genetic counselor Robin L.Bennett provides readers with the basic foundation in humangenetics necessary to recognize inherited disorders and familialdisease susceptibility in patients. As the only guide which isgeared for the physician in this field, The Practical Guide to theGenetic Family History includes remarks by renowned medicalgeneticist Arno Motulsky, as well as information on structuring anaccurate pedigree and its components, including:
* 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.
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