The Practical Guide to the Genetic Family History

The Practical Guide to the Genetic Family History

Author: Robin L. Bennett

Publisher: John Wiley & Sons

Published: 2011-09-20

Total Pages: 389

ISBN-13: 1118209818

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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 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 Practical Guide to the Genetic Family History

The Practical Guide to the Genetic Family History

Author: Robin L. Bennett

Publisher: John Wiley & Sons

Published: 2004-04-07

Total Pages: 271

ISBN-13: 0471459143

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The Practical Guide to The Genetic Family History Robin L. Bennett Compiling the most recent genetic developments in medical specialties, The Practical Guide to the Genetic Family History is a valuable resource which outlines the proper 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. With genetic screening forms, an overview of directed questions, pedigree nomenclature, and outlining common approaches used, genetic counselor Robin L. Bennett provides readers with the basic foundation in human genetics necessary to recognize inherited disorders and familial disease susceptibility in patients. As the only guide which is geared for the physician in this field, The Practical Guide to the Genetic Family History includes remarks by renowned medical geneticist Arno Motulsky, as well as information on structuring an accurate pedigree and its components, including: * Using a pedigree to identify individuals with an increased susceptibility to cancer * Family history, adoption, and their challenges * The connection between the pedigree and assisted reproductive technologies * Making referrals for genetic services * Neurological and neuromuscular conditions * Tables covering hearing loss, mental retardation, dementia, and seizures * Five case studies of genetics in practice An essential reference for genetics clinics, medical geneticists, and counselors, The Practical Guide to the Genetic Family History is also an invaluable aid for both primary care and specialist physicians who need an up-to-date reference that emphasizes both the science and art of modern clinical genetics.


A Guide to Genetic Counseling

A Guide to Genetic Counseling

Author: Wendy R. Uhlmann

Publisher: John Wiley & Sons

Published: 2011-09-20

Total Pages: 647

ISBN-13: 1118210530

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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.


Genetic Counseling Research

Genetic Counseling Research

Author: Ian M. MacFarlane

Publisher: Oxford University Press, USA

Published: 2014

Total Pages: 305

ISBN-13: 0199359091

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This text is devoted to research methodology in genetic counselling. The book offers step-by-step guidance for conducting research, from the development of a question to the publication of findings.


A Practical Guide to Human Cancer Genetics

A Practical Guide to Human Cancer Genetics

Author: S. V. Hodgson

Publisher: Cambridge University Press

Published: 2007

Total Pages: 411

ISBN-13: 052168563X

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The 2006 third edition of this very successful book provides a comprehensive and practical guide to the diagnosis and management of inherited disorders conferring susceptibility to cancer. Issues discussed include risk assessment, genetic counselling, predictive testing and organisation of a cancer genetics service. A full reference list gives access to background literature. With molecular information, screening guidelines and management advice, this new edition will provide geneticists and clinicians in all disciplines with an invaluable resource for screening, managing and advising patients.


Practical Genetic Counseling for the Laboratory

Practical Genetic Counseling for the Laboratory

Author: McKinsey L. Goodenberger

Publisher: Oxford University Press

Published: 2017

Total Pages: 409

ISBN-13: 0190604921

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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


Genetic Genealogy in Practice

Genetic Genealogy in Practice

Author: Blaine T. Bettinger

Publisher:

Published: 2016-09

Total Pages: 196

ISBN-13: 9781935815228

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"Genetic Genealogy in Practice covers the basic knowledge needed to apply DNA evidence to genealogical questions and then reinforces this foundation with practical applications. Each chapter ends with exercises that include real problems that researchers encounter. Answers allow complex concepts to be reviewed and mastered. As well as covering the basics of DNA testing for family history research problems, Genetic Genealogy in Practice includes discussions of ethical issues, genealogical standards, and tips on how to incorporate genetic evidence into a written conclusion. Researchers of all levels will gain a better understanding of genetic genealogy from this book."--Page [4] of cover.


Tracing Your Ancestors Using DNA

Tracing Your Ancestors Using DNA

Author: Graham S. Holton

Publisher: Pen and Sword

Published: 2019-02-28

Total Pages: 299

ISBN-13: 1526733102

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An easy-to-use, straightforward guide for British family historians looking to trace their ancestry using DNA testing. DNA research is one of the most rapidly advancing areas in modern science, and the practical use of DNA testing in genealogy is one of its most exciting applications. Yet there is no recent British publication in this field. That is why this accessible, wide-ranging introduction is so valuable. It offers a clear, practical way into the subject, explaining the scientific discoveries and techniques and illustrating with case studies how it can be used by genealogists to gain an insight into their ancestry. The subject is complex and perhaps difficult for traditional genealogists to understand but, with the aid of this book, novices who are keen to take advantage of it will be able to interpret test results and use them to help answer genealogical questions which cannot be answered by documentary evidence alone. It will also appeal to those with some experience in the field because it places the practical application of genetic genealogy within a wider context, highlighting its role as a genealogical tool and suggesting how it can be made more effective.


Analysis of Complex Disease Association Studies

Analysis of Complex Disease Association Studies

Author: Eleftheria Zeggini

Publisher: Academic Press

Published: 2010-11-17

Total Pages: 353

ISBN-13: 0123751438

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According to the National Institute of Health, a genome-wide association study is defined as any study of genetic variation across the entire human genome that is designed to identify genetic associations with observable traits (such as blood pressure or weight), or the presence or absence of a disease or condition. Whole genome information, when combined with clinical and other phenotype data, offers the potential for increased understanding of basic biological processes affecting human health, improvement in the prediction of disease and patient care, and ultimately the realization of the promise of personalized medicine. In addition, rapid advances in understanding the patterns of human genetic variation and maturing high-throughput, cost-effective methods for genotyping are providing powerful research tools for identifying genetic variants that contribute to health and disease. This burgeoning science merges the principles of statistics and genetics studies to make sense of the vast amounts of information available with the mapping of genomes. In order to make the most of the information available, statistical tools must be tailored and translated for the analytical issues which are original to large-scale association studies. Analysis of Complex Disease Association Studies will provide researchers with advanced biological knowledge who are entering the field of genome-wide association studies with the groundwork to apply statistical analysis tools appropriately and effectively. With the use of consistent examples throughout the work, chapters will provide readers with best practice for getting started (design), analyzing, and interpreting data according to their research interests. Frequently used tests will be highlighted and a critical analysis of the advantages and disadvantage complimented by case studies for each will provide readers with the information they need to make the right choice for their research. Additional tools including links to analysis tools, tutorials, and references will be available electronically to ensure the latest information is available. - Easy access to key information including advantages and disadvantage of tests for particular applications, identification of databases, languages and their capabilities, data management risks, frequently used tests - Extensive list of references including links to tutorial websites - Case studies and Tips and Tricks


Assessing Genetic Risks

Assessing Genetic Risks

Author: Institute of Medicine

Publisher: National Academies Press

Published: 1994-01-01

Total Pages: 353

ISBN-13: 0309047986

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Raising hopes for disease treatment and prevention, but also the specter of discrimination and "designer genes," genetic testing is potentially one of the most socially explosive developments of our time. This book presents a current assessment of this rapidly evolving field, offering principles for actions and research and recommendations on key issues in genetic testing and screening. Advantages of early genetic knowledge are balanced with issues associated with such knowledge: availability of treatment, privacy and discrimination, personal decision-making, public health objectives, cost, and more. Among the important issues covered: Quality control in genetic testing. Appropriate roles for public agencies, private health practitioners, and laboratories. Value-neutral education and counseling for persons considering testing. Use of test results in insurance, employment, and other settings.