Practical Guide to the Genetic Family History

Häftad, Engelska, 2010

AvRobin L. Bennett,USA) Bennett, Robin L., MS, CGC (University of Washington Medical Center,Robin L Bennett

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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 historyDirected questions to ask when developing a medical-family history for specific disease conditionsUse of pedigrees to identify individuals with an increased susceptibility to cancerVerification of family medical informationSpecial considerations when adoptions or gamete donors are involvedEthical issues that may arise in recording a pedigreeThroughout 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.

Produktinformation

Utgivningsdatum2010-03-12
Mått152 x 231 x 20 mm
Vikt544 g
FormatHäftad
SpråkEngelska
Antal sidor384
Upplaga2
FörlagJohn Wiley and Sons Ltd
ISBN9780470040720

Tillhör följande kategorier

Medicinsk genetik inom Medicin

Illustrations and Tables xvForeword xxiPreface xxiii1. The Language of the Pedigree 11.1 Why Take Time to Record a Genetic Family History 11.2 What Do Cranes Have to Do with Anything? 21.3 The Pedigree is a Cost-Effective Tool for Genetic Diagnosis and Risk Assessment for Many Diseases 41.4 Just Do It© 51.5 The Pedigree as a Diagnostic Tool 51.6 Using the Pedigree to Decide on Testing Strategies and for Evaluating At-risk Relatives 61.7 Using the Pedigree to Establish the Pattern of Inheritance and Calculate Risks 61.8 A Pedigree Can Help Distinguish Genetic from Other Risk Factors 61.9 A Pedigree Can Document Shared Environment and Shared Genetic Risk Factors 81.10 A Pedigree Can Help Identify Medical Screening Needs for Healthy Individuals 81.11 Taking a Family History is aWay to Establish Client Rapport and Facilitate Patient Decision Making 81.12 A Pedigree Can Be Used for Patient Medical Education 91.13 Using a Pedigree to Explore a Patient’s Understanding and to Clarify Misconceptions 111.14 Other Family Diagrams: Genograms and Ecomaps 111.15 The Continuing Evolution of the Pedigree in the Age of Genomic Medicine 141.16 References 162. Practical Inheritance 182.1 A Tribute(ary) to Mendel 182.2 A Brief Genetics Primer 192.3 Types of Mutations 222.4 Single-Gene Disorders 232.5 Multi-Allelic Inheritance 232.6 Confounding Factors in Recognizing Patterns of Inheritance 232.7 Recognizing Patterns of Inheritance 252.8 Nontraditional Inheritance Patterns 362.9 Other Factors to Consider 432.10 Environmental Factors 442.11 Summary 442.12 References 453. Getting to the Roots: Recording the Family Tree 483.1 Creating a Medical Pedigree: Getting Started 483.2 Laying the Foundation—Pedigree Line Definitions 513.3 Keeping Track of Who is Who on the Pedigree 523.4 How Many Generations Are Included in a Pedigree? 533.5 The Basic Pedigree Symbols 553.6 Yours, Mine, and Ours—The Blended Family 553.7 Pedigree Symbols Related to Pregnancy and Reproduction 593.8 Assisted Reproductive Technologies (ART) and Use of Donor Gametes 593.9 Adoption 593.10 Infertility and No Children by Choice 603.11 Affected Status: Shading the Pedigree Symbols 603.12 A & W 613.13 “He Died of a Broken Heart”—Family Hearsay 613.14 Family History Unknown 613.15 Documenting Medical Examinations and Evaluations 613.16 A Note on Genetic Testing 643.17 The Healthy Person with an Abnormal Genetic Test Result: The Difference between a Presymptomatic or Asymptomatic Carrier and an Obligate Carrier 643.18 Pedigree Etiquette 653.19 Recording a Basic Pedigree: The Questions to Ask 683.20 The Closing Questions 773.21 The Family Photo Album 773.22 What’s Remarkable about an Unremarkable Family History? 793.23 Confidentiality and Family History 793.24 When is a Genetic Family History Significant? 803.25 The Ultimate Pedigree Challenge 803.26 Summary 813.27 References 814. Directed Medical-Genetics Family History Questions: Separating the Trees from the Forest 834.1 The Approach: Look for the Rare but Remember the Ordinary 834.2 Physical Birth Anomalies and Variants 874.3 Deafness/Hearing Loss 994.4 Vision Impairment 1074.5 Intellectual Disability 1134.6 Pervasive Developmental Disorders (PDD)/Autism Spectrum Disorder (Autism) 1204.7 Cerebral Palsy 1224.8 Neurological and Neuromuscular Disorders 1254.9 Seizures 1274.10 Stroke 1314.11 Dementia 1344.12 Mental Illness 1384.13 Disorders Involving the Cardiac System 1434.14 Chronic Respiratory Disease 1464.15 Renal Disease 1494.16 Skeletal Anomalies and Disorders of Short Stature 1524.17 Diabetes 1544.18 Multiple Miscarriages, and Male and Female Infertility 1584.19 Sudden Infant Death Syndrome (SIDS) 1684.20 Summary 1694.21 References 1695. Using a Pedigree to Recognize Individuals with an Increased Susceptibility to Cancer 1775.1 Using Medical Family History to Identify Persons At Risk for an Inherited Cancer Syndrome 1775.2 Information to Record in a Cancer Family History 1935.3 Cancer Risk Assessment Requires Accurate Information on Cancer Diagnoses 1935.4 Young Age of Onset is Typical of Inherited Cancer Syndromes 1965.5 Rare Cancers Can Be a Clue to an Inherited Cancer Syndrome 1975.6 Sex-limited, Sex-influenced, and Parent of Origin Effects (Parental Imprinting and Uniparental Disomy) 1975.7 Environmental and Occupational Risk Factors for Cancer 1985.8 Be Cautious in Assuming a Cancer is Sporadic or a New Mutation if the Cancer is Diagnosed at a Young Age or Is Uncommon 2005.9 Family Ancestry is Important for Cancer Risk Assessment 2065.10 Consanguinity and Cancer Risk Assessment 2065.11 Cancer Worry: The Pedigree as a Psychosocial Tool 2085.12 Models for Predicting the Risk of Developing Cancer or the Probability of Testing Mutation-Positive for an Inherited Cancer Syndrome 2095.13 Summary 2115.14 References 2126. Medical Verification of Family History, and Resources for Patients to Record Their Genetic Family Histories 2206.1 Validation of Family Medical Information is a Necessity 2206.2 How to Approach Family Members 2226.3 The Privacy of a Person’s Life 2226.4 Requesting Medical Documentation 2236.5 Shifts in Medical Terminology 2256.6 Empowering Your Patients with Tools for Recording Their Own Medical-Family Histories 2266.7 Software Programs for Recording Family Histories 2276.8 Resources from the Genealogical Gurus 2286.9 Summary 2286.10 References 2297. The Challenge of Family History and Adoption 2307.1 The Problem Defined 2307.2 Evolving Adoption Laws 2317.3 Obtaining Medical Information from a Closed Adoption 2347.4 Genetic Testing of Children Being Placed for Adoption 2357.5 A Model Medical and Genetic Family History form for Adoptions 2367.6 Summary 2367.7 References 2378. Family History and Assisted Reproductive Technologies 2398.1 Gamete Donation Allows Couples at High Risk for Genetic Disorders to Have Healthy Offspring 2398.2 Screening Gamete Donors for Inherited Disorders 2418.3 Intractyoplasmic Sperm Injection and Genetic Disease 2438.4 Representing Gamete Donation and Surrogacy on a Pedigree 2438.5 The Forgotten Family History: The Offspring of Donor-Conceived Pregnancies 2458.6 Summary 2458.7 References 2469. Genetic Counseling: Where to Turn, What to Expect, and the Pedigree as a Psychosocial Assessment and Counseling Tool 2479.1 Genetic Conditions Have Distinguishing Aspects from Other Medical Conditions 2479.2 The Pedigree as a Tool in Psychosocial Assessment and Counseling 2519.3 The Process of Genetic Counseling 2539.4 What to Expect from a Genetics Consultation 2539.5 Genetic Counselors and Other Genetic Specialists 2559.6 Locating a Genetics Professional 2569.7 Summary 2569.8 References 25610. Pedigree Predicaments 25910.1 The Truth 25910.2 Lessons from History 26110.3 The Researcher and Family Studies 26310.4 Pedigrees and Publications 26410.5 Pedigrees and the Electronic Medical Record 26710.6 Summary 27110.7 References 272Glossary 274A.1. Handy Reference Tables of Pedigree Nomenclature 287A.2. Sample Clinical Pedigree Form 290A.3. Sample Genetic Screening Form for Familial Cancer Risk Assessment 292A.4. Sample Adoption Medical-Family History Form 295A.5. The Genetics Library 308A.6. Genetics in Practice: Five Case Studies 313A.7. List of Genetic Disorders, Gene Symbols and Names, and Patterns of Inheritance 327Index 340

"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)