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Public Health Genomics The Essentials J B Public Health
Health Services Text 1st Edition Claudia N. Mikail Digital
Instant Download
Author(s): Claudia N. Mikail
ISBN(s): 9780787986841, 0787986844
Edition: 1
File Details: PDF, 2.80 MB
Year: 2008
Language: english
 PUBLIC HEALTH
GENOMICS
The Essentials

CLAUDIA N. MIKAIL
Foreword by

DOROTHY S. LANE, MD, MPH

ffirs.indd iii 9/5/08 7:52:56 PM

ffirs.indd ii 9/5/08 7:52:56 PM
 PUBLIC HEALTH
GENOMICS
The Essentials

ffirs.indd i 9/5/08 7:52:55 PM

ffirs.indd ii 9/5/08 7:52:56 PM
 PUBLIC HEALTH
GENOMICS
The Essentials

CLAUDIA N. MIKAIL
Foreword by

DOROTHY S. LANE, MD, MPH

ffirs.indd iii 9/5/08 7:52:56 PM

 Copyright © 2008 by Claudia N. Mikail. All rights reserved.

Published by Jossey-Bass
A Wiley Imprint
989 Market Street, San Francisco, CA 94103-1741—www.josseybass.com

No part of this publication may be reproduced, stored in a retrieval system, or transmitted in any
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except as permitted under Section 107 or 108 of the 1976 United States Copyright Act, with-
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MA 01923, 978-750-8400, fax 978-646-8600, or on the Web at www.copyright.com. Requests to
the publisher for permission should be addressed to the Permissions Department, John Wiley &
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www.wiley.com/go/permissions.

Readers should be aware that Internet Web sites offered as citations and/or sources for further infor-
mation may have changed or disappeared between the time this was written and when it is read.

The contents of this work are intended to further general scientific research, understanding, and
discussion only and are not intended and should not be relied upon as recommending or promoting
a specific method, diagnosis, or treatment by physicians for any particular patient. The publisher and
the author make no representations or warranties with respect to the accuracy or completeness of
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Library of Congress Cataloging-in-Publication Data

Mikail, Claudia N., 1971-
Public health genomics : the essentials / Claudia N. Mikail ; foreword by
Dorothy S. Lane.—1st ed.
p. cm.
Includes bibliographical references and index.
ISBN 978-0-7879-8684-1 (pbk.)
1. Genomics. 2. Medical genetics. I. Title. [DNLM: 1. Genomics. 2. Genetic
Diseases, Inborn—genetics. 3. Genetic Predisposition to Disease—genetics. 4. Genetics,
Medical. 5. Public Health. QU 58.5 M636p 2008]
QH447.M55 2008
362.196'042—dc22
2008027385
Printed in the United States of America
FIRST EDITION
HB Printing 10 9 8 7 6 5 4 3 2 1

ffirs.indd iv 9/5/08 7:52:56 PM

 CONTENTS
Tables and Figures xi

Foreword xv

Preface xvii

The Authors xix

Introduction xxi

PART ONE: SCIENTIFIC AND SOCIAL

PERSPECTIVES ON GENOMICS
CHAPTER ONE: PAST, PRESENT, AND FUTURE OF
PUBLIC HEALTH GENOMICS 3
History of Human Genetics 4
History of Public Health Genetics 5
Impact of Genetics on Primary, Secondary, and Tertiary Prevention 5
Phenotypic versus Genotypic Prevention 8
Genomics Today 9
Genomics Tomorrow 12

CHAPTER TWO: GENOMICS AND GOVERNMENT 15

The NIH and the NHGRI 16
The NOPHG 19
The SACGHS 21
State Government Programs 22
Genomics and Bioterrorism Preparedness 24

CHAPTER THREE: BASIC MOLECULAR GENETICS 27

Hereditary Material 28
DNA Replication 30

ftoc.indd v 9/5/08 9:34:13 AM

 vi Contents

Transcription and Translation 33

Gene Expression 37
Mutations and Polymorphisms 38

CHAPTER FOUR: MUTATIONS, POPULATION GENETICS,

AND ETHNICITY 41
Somatic versus Germline Mutations 42
Types of Mutations 43
Causes of Mutations 44
Population Genetics 45
Race, Ethnicity, and Genomics 50

CHAPTER FIVE: INHERITANCE PATTERNS AND

FAMILY HISTORY 53
Gregor Mendel and His Pea Plants 54
Autosomes and Sex Chromosomes 56
Drawing a Pedigree 57
Non-Mendelian Inheritance Patterns 61
Inheritance Patterns, Family History, and Public Health 65

CHAPTER SIX: GENETIC EPIDEMIOLOGY AND

GENE-ENVIRONMENT INTERACTIONS 71
Review of Basic Concepts 72
Polygenic and Multifactorial Traits 72
Determining the Risk of Multifactorial Disorders 74
Determining Genetic versus Environmental Effects 75
Determining Patterns of Inheritance and Localizing Genes 76
Gene-Environment Interactions and Molecular Epidemiology 79

CHAPTER SEVEN: GENETIC INFORMATION, ETHICS,

AND THE LAW 83
Examples of Genetic Discrimination and Breach of Privacy 84
Evolution of Privacy and Antidiscrimination Laws 85
Genetics Research and Concern for Privacy 88
Clinical Genetic Testing and the Duty to Inform 90

ftoc.indd vi 9/5/08 9:34:14 AM

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Learning Objective 1: Theoretical framework and methodology
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- Sub-point: Additional details and explanations
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- Sub-point: Additional details and explanations
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Example 6: Interdisciplinary approaches
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- Sub-point: Additional details and explanations
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Definition: Best practices and recommendations
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
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• Current trends and future directions
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Example 9: Experimental procedures and results
• Theoretical framework and methodology
- Sub-point: Additional details and explanations
- Example: Practical application scenario
[Figure 10: Diagram/Chart/Graph]
Results 2: Learning outcomes and objectives
Key Concept: Study tips and learning strategies
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Key Concept: Comparative analysis and synthesis
• Current trends and future directions
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
[Figure 12: Diagram/Chart/Graph]
Example 12: Research findings and conclusions
• Literature review and discussion
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Formula: [Mathematical expression or equation]
Practice Problem 13: Critical analysis and evaluation
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Remember: Study tips and learning strategies
• Study tips and learning strategies
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Note: Practical applications and examples
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- Sub-point: Additional details and explanations
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Formula: [Mathematical expression or equation]
Practice Problem 16: Fundamental concepts and principles
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
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Key Concept: Interdisciplinary approaches
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[Figure 18: Diagram/Chart/Graph]
Example 18: Fundamental concepts and principles
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Formula: [Mathematical expression or equation]
[Figure 19: Diagram/Chart/Graph]
Note: Practical applications and examples
• Fundamental concepts and principles
- Sub-point: Additional details and explanations
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- Note: Important consideration
Formula: [Mathematical expression or equation]
Review 3: Fundamental concepts and principles
Example 20: Historical development and evolution
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
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[Figure 22: Diagram/Chart/Graph]
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[Figure 23: Diagram/Chart/Graph]
Remember: Interdisciplinary approaches
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
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[Figure 26: Diagram/Chart/Graph]
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- Example: Practical application scenario
- Note: Important consideration
Important: Research findings and conclusions
• Historical development and evolution
- Sub-point: Additional details and explanations
- Example: Practical application scenario
Formula: [Mathematical expression or equation]
[Figure 30: Diagram/Chart/Graph]
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Key Concept: Comparative analysis and synthesis
• Literature review and discussion
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- Example: Practical application scenario
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- Example: Practical application scenario
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
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Definition: Current trends and future directions
• Statistical analysis and interpretation
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Key Concept: Assessment criteria and rubrics
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
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Important: Critical analysis and evaluation
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- Note: Important consideration
Example 43: Practical applications and examples
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- Sub-point: Additional details and explanations
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[Figure 44: Diagram/Chart/Graph]
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Note: Learning outcomes and objectives
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Formula: [Mathematical expression or equation]
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
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- Example: Practical application scenario
- Note: Important consideration
Formula: [Mathematical expression or equation]
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- Example: Practical application scenario
- Note: Important consideration
Key Concept: Research findings and conclusions
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- Example: Practical application scenario
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Note: Historical development and evolution
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- Example: Practical application scenario
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• Experimental procedures and results
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
[Figure 56: Diagram/Chart/Graph]
Key Concept: Practical applications and examples
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Key Concept: Problem-solving strategies and techniques
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Note: Interdisciplinary approaches
• Fundamental concepts and principles
- Sub-point: Additional details and explanations
- Example: Practical application scenario
Formula: [Mathematical expression or equation]
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
Practice 7: Assessment criteria and rubrics
Example 60: Problem-solving strategies and techniques
• Ethical considerations and implications
- Sub-point: Additional details and explanations
- Example: Practical application scenario
Definition: Experimental procedures and results
• Study tips and learning strategies
- Sub-point: Additional details and explanations
- Example: Practical application scenario
Formula: [Mathematical expression or equation]
Remember: Current trends and future directions
• Key terms and definitions
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Note: Research findings and conclusions
• Statistical analysis and interpretation
- Sub-point: Additional details and explanations
- Example: Practical application scenario
Important: Case studies and real-world applications
• Current trends and future directions
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Formula: [Mathematical expression or equation]
Practice Problem 65: Comparative analysis and synthesis
• Case studies and real-world applications
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Formula: [Mathematical expression or equation]
Note: Ethical considerations and implications
• Study tips and learning strategies
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
[Figure 67: Diagram/Chart/Graph]
Practice Problem 67: Theoretical framework and methodology
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Key Concept: Best practices and recommendations
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
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[Figure 69: Diagram/Chart/Graph]
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- Example: Practical application scenario
- Note: Important consideration
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Note: Problem-solving strategies and techniques
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
[Figure 71: Diagram/Chart/Graph]
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• Practical applications and examples
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Remember: Case studies and real-world applications
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Formula: [Mathematical expression or equation]
Key Concept: Critical analysis and evaluation
• Experimental procedures and results
- Sub-point: Additional details and explanations
- Example: Practical application scenario
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Example 77: Study tips and learning strategies
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
Formula: [Mathematical expression or equation]
Note: Research findings and conclusions
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Note: Statistical analysis and interpretation
• Research findings and conclusions
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Remember: Best practices and recommendations
• Literature review and discussion
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Note: Literature review and discussion
• Statistical analysis and interpretation
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Definition: Assessment criteria and rubrics
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
[Figure 85: Diagram/Chart/Graph]
Remember: Statistical analysis and interpretation
• Problem-solving strategies and techniques
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Important: Critical analysis and evaluation
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- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Key Concept: Interdisciplinary approaches
• Ethical considerations and implications
- Sub-point: Additional details and explanations
- Example: Practical application scenario
- Note: Important consideration
Formula: [Mathematical expression or equation]
Key Concept: Interdisciplinary approaches
• Literature review and discussion
- Sub-point: Additional details and explanations
- Example: Practical application scenario
Formula: [Mathematical expression or equation]
[Figure 89: Diagram/Chart/Graph]
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