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 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.

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.

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.

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.

This extensively updated and expanded edition provides the busy clinician with an essential overview of the latest developments in human cancer genetics--an area that has made significant advances since publication of the first edition. The opening section presents the principles of cancer genetics and introduces the basic concepts and mechanisms of tumorigenesis and inherited predisposition to cancer. The second part of the book provides information, on a systems basis, on the incidence, significance and management of predisposition to individual cancers. The final section deals with specific inherited cancer syndromes, giving practical guidance on clinical investigation, screening and management of affected patients and relatives at risk. The authors also provide up-to-date details of the genetic mapping of inherited cancer syndromes and the molecular genetic changes in individual cancers. Finally, an appendix provides a helpful revision guide to the fundamental principles of genetics. This practical and clear account will benefit clinicians and research workers in oncology, genetics, surgery and general medicine.

This book is a concise and accessible resource on how to take and record a patient's family medical history to determine if the patient's affliction has a genetic component. In an era of managed care, physicians must be selective about which patients are truly in need of specialty medical services such as genetic testing and counseling. This book will enable the health care professional to intelligently refer patients for genetic testing and counseling.

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 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.

You don't have to learn everything about genetic genealogy before asking specific questions of your DNA! That's the premise of Diahan Southard's brand new book, Your DNA Guide - the Book, now available for pre-order at a special sale price. Your DNA Guide - the Book is like no other genetic genealogy book on the market. Instead of learning more-than-you-need-to-know in textbook style, you'll choose a specific DNA question to start exploring right away. You'll follow concrete step-by-step plans, learning important DNA concepts--in plain English--as you go. Do you want to learn who your 2X great grandmother is? Turn to page 23. Do you want to know how you are related to one of your DNA matches? Page 37. As you proceed, you check your progress and get new guidance based on your specific results at each stage. (Including troubleshooting, like when your matches just aren't responding or your great-grandparents turn out to be first cousins.) This powerful, hands-on approach is based on Diahan's 20 years of experience in the genetic genealogy industry and especially in the past five years, as she helps clients one-on-one make DNA discoveries. It became clear to her that while each client's situation may be unique, there are patterns in how you can find solutions that you can apply yourself. Your DNA Guide - the Book is for anyone who has taken a DNA test or may want to. It helps genealogists reconstruct family trees. It helps adoptees identify biological relatives. It can help you identify a specific DNA match. In short, it helps anyone explore what their DNA--and their DNA matches--can tell them about their origins.