The Practical Guide to the Genetic Family History

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ISBN: 9780470040720 | 0470040726
Cover: Paperback
Copyright: 3/8/2010

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Like its first edition, The Practical Guide to the Genetic Family History, Second Edition is an invaluable resource outlining the best practices in taking and recording a patient's family medical history, allowing healthcare professionals to be well informed and efficient in diagnosing conditions with potential genetic components. Complete with genetic screening forms, an overview of directed questions, pedigree nomenclature, and an outline of common approaches, the book offers a basic foundation in human genetics and genetic counseling and the ability to recognize inherited disorders and disease susceptibility in patients.

Illustrations and Tables	p. xv
Foreword	p. xxi
Preface	p. xxiii
The Language of the Pedigree	p. 1
Why Take Time to Record a Genetic Family History	p. 1
What Do Cranes Have to Do with Anything?	p. 2
The Pedigree Is a Cost-Effective Tool for Genetic Diagnosis and Risk Assessment for Many Diseases	p. 4
Just Do It©	p. 5
The Pedigree as a Diagnostic Tool	p. 5
Using the Pedigree to Decide on Testing Strategies and for Evaluating At-risk Relatives	p. 6
Using the Pedigree to Establish the Pattern of Inheritance and Calculate Risks	p. 6
A Pedigree Can Help Distinguish Genetic from Other Risk Factors	p. 6
A Pedigree Can Document Shared Environment and Shared Genetic Risk Factors	p. 8
A Pedigree Can Help Identify Medical Screening Needs for Healthy Individuals	p. 8
Taking a Family History Is a Way to Establish Client Rapport and Facilitate Patient Decision Making	p. 8
A Pedigree Can Be Used for Patient Medical Education	p. 9
Using a Pedigree to Explore a Patient's Understanding and to Clarify Misconceptions	p. 11
Other Family Diagrams: Genograms and Ecomaps	p. 11
The Continuing Evolution of the Pedigree in the Age of Genomic Medicine	p. 14
References	p. 16
Practical Inheritance	p. 18
A Tribute(ary) to Mendel	p. 18
A Brief Genetics Primer	p. 19
Types of Mutations	p. 22
Single-Gene Disorders	p. 23
Multi-Allelic Inheritance	p. 23
Confounding Factors in Recognizing Patterns of Inheritance	p. 23
Recognizing Patterns of Inheritance	p. 25
Nontraditional Inheritance Patterns	p. 36
Other Factors to Consider	p. 43
Environmental Factors	p. 44
Summary	p. 44
References	p. 45
Getting to the Roots: Recording the Family Tree	p. 48
Creating a Medical Pedigree: Getting Started	p. 48
Laying the Foundation-Pedigree Line Definitions	p. 51
Keeping Track of Who Is Who on the Pedigree	p. 52
How Many Generations Are Included in a Pedigree?	p. 53
The Basic Pedigree Symbols	p. 55
Yours, Mine, and Ours-The Blended Family	p. 55
Pedigree Symbols Related to Pregnancy and Reproduction	p. 59
Assisted Reproductive Technologies (ART) and Use of Donor Gametes	p. 59
Adoption	p. 59
Infertility and No Children by Choice	p. 60
Affected Status: Shading the Pedigree Symbols	p. 60
A & W	p. 61
"He Died of a Broken Heart"-Family Hearsay	p. 61
Family History Unknown	p. 61
Documenting Medical Examinations and Evaluations	p. 61
A Note on Genetic Testing	p. 64
The Healthy Person with an Abnormal Genetic Test Result: The Difference between a Presymptomatic or Asymptomatic Carrier and an Obligate Carrier	p. 64
Pedigree Etiquette	p. 65
Recording a Basic Pedigree: The Questions to Ask	p. 68
The Closing Questions	p. 77
The Family Photo Album	p. 77
What's Remarkable about an Unremarkable Family History?	p. 79
Confidentiality and Family History	p. 79
When Is a Genetic Family History Significant?	p. 80
The Ultimate Pedigree Challenge	p. 80
Summary	p. 81
References	p. 81
Directed Medical-Genetics Family History Questions: Separating the Trees from the Forest	p. 83
The Approach: Look for the Rare but Remember the Ordinary	p. 83
Physical Birth Anomalies and Variants	p. 87
Deafness/Hearing Loss	p. 99
Vision Impairment	p. 107
Intellectual Disability	p. 113
Pervasive Developmental Disorders (PDD)/Autism Spectrum Disorder (Autism)	p. 120
Cerebral Palsy	p. 122
Neurological and Neuromuscular Disorders	p. 125
Seizures	p. 127
Stroke	p. 131
Dementia	p. 134
Mental Illness	p. 138
Disorders Involving the Cardiac System	p. 143
Chronic Respiratory Disease	p. 146
Renal Disease	p. 149
Skeletal Anomalies and Disorders of Short Stature	p. 152
Diabetes	p. 154
Multiple Miscarriages, and Male and Female Infertility	p. 158
Sudden Infant Death Syndrome (SIDS)	p. 168
Summary	p. 169
References	p. 169
Using a Pedigree to Recognize Individuals with an Increased Susceptibility to Cancer	p. 177
Using Medical Family History to Identify Persons At Risk for an Inherited Cancer Syndrome	p. 177
Information to Record in a Cancer Family History	p. 193
Cancer Risk Assessment Requires Accurate Information on Cancer Diagnoses	p. 193
Young Age of Onset Is Typical of Inherited Cancer Syndromes	p. 196
Rare Cancers Can Be a Clue to an Inherited Cancer Syndrome	p. 197
Sex-limited, Sex-influenced, and Parent of Origin Effects (Parental Imprinting and Uniparental Disomy)	p. 197
Environmental and Occupational Risk Factors for Cancer	p. 198
Be Cautious in Assuming a Cancer Is Sporadic or a New Mutation if the Cancer Is Diagnosed at a Young Age or Is Uncommon	p. 200
Family Ancestry Is Important for Cancer Risk Assessment	p. 206
Consanguinity and Cancer Risk Assessment	p. 206
Cancer Worry; The Pedigree as a Psychosocial Tool	p. 208
Models for Predicting the Risk of Developing Cancer or the Probability of Testing Mutation-Positive for an Inherited Cancer Syndrome	p. 209
Summary	p. 211
References	p. 212
Medical Verification of Family History, and Resources for Patients to Record Their Genetic Family Histories	p. 220
Validation of Family Medical Information Is a Necessity	p. 220
How to Approach Family Members	p. 222
The Privacy of a Person's Life	p. 222
Requesting Medical Documentation	p. 223
Shifts in Medical Terminology	p. 225
Empowering Your Patients with Tools for Recording Their Own Medical-Family Histories	p. 226
Software Programs for Recording Family Histories	p. 227
Resources from the Genealogical Gurus	p. 28
Summary	p. 228
References	p. 229
The Challenge of Family History and Adoption	p. 230
The Problem Defined	p. 230
Evolving Adoption Laws	p. 231
Obtaining Medical Information from a Closed Adoption	p. 234
Genetic Testing of Children Being Placed for Adoption	p. 235
A Model Medical and Genetic Family History form for Adoptions	p. 236
Summary	p. 236
References	p. 237
Family History and Assisted Reproductive Technologies	p. 239
Gamete Donation Allows Couples at High Risk for Genetic Disorders to Have Healthy Offspring	p. 239
Screening Gamete Donors for Inherited Disorders	p. 241
Intractyoplasmic Sperm Injection and Genetic Disease	p. 243
Representing Gamete Donation and Surrogacy on a Pedigree	p. 243
The Forgotten Family History: The Offspring of Donor-Conceived Pregnancies	p. 245
Summary	p. 245
References	p. 246
Genetic Counseling: Where to Turn, What to Expect, and the Pedigree as a Psychosocial Assessment and Counseling Tool	p. 247
Genetic Conditions Have Distinguishing Aspects from Other Medical Conditions	p. 247
The Pedigree as a Tool in Psychosocial Assessment and Counseling	p. 251
The Process of Genetic Counseling	p. 253
What to Expect from a Genetics Consultation	p. 253
Genetic Counselors and Other Genetic Specialists	p. 255
Locating a Genetics Professional	p. 256
Summary	p. 256
References	p. 256
Pedigree Predicaments	p. 259
The Truth	p. 259
Lessons from History	p. 261
The Researcher and Family Studies	p. 263
Pedigrees and Publications	p. 264
Pedigrees and the Electronic Medical Record	p. 267
Summary	p. 271
References	p. 272
Glossary	p. 274
Handy Reference Tables of Pedigree Nomenclature	p. 287
Sample Clinical Pedigree Form	p. 290
Sample Genetic Screening Form for Familial Cancer Risk Assessment	p. 292
Sample Adoption Medical-Family History Form	p. 295
The Genetics Library	p. 308
Genetics in Practice: Five Case Studies	p. 313
List of Genetic Disorders, Gene Symbols and Names, and Patterns of Inheritance	p. 327
Index	p. 340
Table of Contents provided by Ingram. All Rights Reserved.

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The Practical Guide to the Genetic Family History

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