Genomic essentials for graduate level nurses

460 Pages·2016·46.679 MB·English

by  Edwards, Quannetta T., Maradiegue, Ann H., Seibert, Diane, Tinley, Susan

Genomic Essentials for Graduate Level Nurses
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Genomic
Essentials
for Graduate
Level Nurses
Edited by
Diane C. Seibert, Ph.D, WHNP-BC, ANP-BC,
FAANP, FAAN
Professor and Interim Associate Dean, Academic Affairs
Daniel K. Inouye Graduate School of Nursing
Uniformed Services University of the Health Sciences
Bethesda, MD
Quannetta T. Edwards Ph.D, FNP-BC,
WHNP-BC, AGN-BC, FAANP
Professor
College of Graduate Nursing
Western University of Health Sciences
Pomona, CA
Ann H. Maradiegue, Ph.D, FNP-BC, FAANP
James Madison University
Harrisonburg, VA
Susan T. Tinley, Ph.D, RN, CGC (RET)
Associate Professor Emerita
Creighton University College of Nursing
Omaha, NE
Genomic Essentials for Graduate Level Nurses
DEStech Pub li ca tions, Inc.
439 North Duke Street
Lanc as ter, Penns ylv an ia 17602 U.S.A.
Copy right © 2016 by DEStech Pub li ca tions, Inc.
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No part of this pub lic at ion may be re prod uced, stored in a
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Printed in the United States of Ameri ca
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Main ent ry un der tit le:
Genomic Essentials for Graduate Level Nurses
A DEStech Pub lic at ions book
Bib lio gr ap hy: p.
Inc ludes in dex p. 433
Library of Congress Control Number: 2016932489
ISBN: 978-1-60595-094-5
Table of Contents
Preface xi
List of Contributors xiii
Chapter 1. Introduction to Basic Genetics and Genomics . . . . . . . . . . . . . . . . . . . . . . . .1
SUSAN T . TINLEY
1.1. Introduction 1
1.2. DNA Structure and Replication 1
1.3. Numerical and Structural Cytogenetic Abnormalities 6
1.4. DNA and RNA Function 10
1.5. Mutations in the Genetic Code 15
1.6. Functional Effects of Mutations 18
1.7. Mendelian Patterns of Inheritance 19
1.8. Alterations to Mendelian Patterns 23
1.9. Non-Mendelian Patterns of Inheritance 25
1.10. Advances in Genomics and Pharmacogenomics 27
1.11. References 28
Chapter 2. A Primer: Risk Assessment, Data Collection, and Interpretation
for Genomic Clinical Assessment . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .31
ANN H . MARADIEGUE and QUANNETTA T . EDWARDS
2.1. Definition of Terms Important for this Chapter 31
2.2. Introduction 33
2.3. Risk Assessment RAPID Approach—Step 1 Data Collection 35
2.4. RAPID Risk Assessment Approach—Identification of Red Flags 53
2.5. Pedigree Challenges—Confounding Factors in Inheritance Patterns 56
2.6. RAPID 2.3: Step 3—Determination of Risk Probability 57
2.7. RAPID 2.4: Step 4—Risk Assessment—Review Data and Communicate
Risk to Client/Family 59
2.8. RAPID 2.5: Step 5—Risk Management 60
2.9. Nursing Implications of the Genomic Family History and
Risk Assessment 60
2.10. References 62
Chapter 3. Testing and Counseling for Genetic and Genomic Conditions . . . . . . . . . .67
SUSAN T . TINLEY
3.1. Introduction 67
3.2. Genetic Testing 67
v
vi Table of Contents
3.3. Cytogenetics 68
3.4. Molecular or DNA Testing 69
3.5. Purpose of Testing 71
3.6. Genetic Counseling 73
3.7. Elements of Informed Consent for Genetic Testing 75
3.8. Support of Client Coping and Use of Genetic/Genomic Information 77
3.9. Genomics and Genetic Counseling 80
3.10. Conclusion 80
3.11. References 80
Chapter 4. Ethical, Legal, and Social Implications in Genomic Advanced
Practice Nursing . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .85
KATHLEEN SPARBEL and MARTHA TURNER
4.1. Introduction 85
4.2. Approaches in Bioethics 85
4.3. Ethical Standards and Ethical Competence in Nursing 88
4.4. Genetic and Genomic Competencies 88
4.5. Risk Assessment and Interpretation 90
4.6. Genetic Education, Counseling, Testing, and Results Interpretation 91
4.7. Clinical Management 93
4.8. Legal and Social Implications of Genetic and Genomic Information 94
4.9. Conclusion 96
4.10. References 96
Chapter 5. Essentials of Pharmacogenomics . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .99
JUNE ZHANG, YU LIU, JEFFERY FAN, BRADLEY T . ANDRESEN
and YING HUANG
5.1. Introduction to Pharmacogenomics 99
5.2. Pharmacokinetics (PK), Pharmacodynamics (PD), and Pharmacogenomics 103
5.3. Pharmacogenomics of Individual Drugs 103
5.4. Overall Summary and Future Opportunities for Nurses 114
5.5. References 116
Chapter 6. Preconceptual and Prenatal Genomics . . . . . . . . . . . . . . . . . . . . . . . . . . . .123
MICHELLE MUNROE, DIANE C . SEIBERT and DANA KNUTZEN
6.1. Introduction 123
6.2. Assessing Risk and the Family Health History (FHH) 123
6.3. Preconception Care 124
6.4. Epigenetics 125
6.5. Smoking 126
6.6. Seizure Disorder 126
6.7. Neural Tube Defect (NTD) 126
6.8. Genetic Conditions Affecting Fertility 127
6.9. Congenital Adrenal Hyperplasia 127
6.10. Fragile X Syndrome 128
Table of Contents vii
6.11. Turner Syndrome 129
6.12. Klinefelter Syndrome 130
6.13. Cystic Fibrosis 130
6.14. Assisted Reproductive Technologies (ART) 131
6.15. Preimplantation Diagnostic Testing (PGD) 131
6.16. Maternal Genetic Conditions That May Adversely Affect
Pregnancy Outcomes 131
6.17. Gestational Diabetes 131
6.18. Sickle Cell Disease 132
6.19. Cystic Fibrosis 132
6.20. Maternal Phenylketonuria (PKU) 133
6.21. Pregnancy Complications with a Genomic Etiology 133
6.22. References 136
Chapter 7. Newborn Screening . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .141
KAREN L . ZANNI
7.1. Introduction 141
7.2. History of Newborn Screening 141
7.3. New Technologies 143
7.4. Ethical, Legal, Social, and Practical Considerations 144
7.5. Implications for Educators, Researchers, and Administrators 146
7.6. References 147
Chapter 8. Genetic Considerations in Childhood . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .149
HEATHER L . JOHNSON, JOANNA SPAHIS and DALE H . LEA
8.1. Introduction 149
8.2. Assessment of Children with Atypical Features, Growth, or Development 149
8.3. Dysmorphology 150
8.4. Common Genetic Conditions 150
8.5. Growth 154
8.6. Short Stature 157
8.7. Tall Stature 161
8.8. Atypically Developing Children 164
8.9. The Six Core Elements of Health Care Transition 170
8.10. Using Transition Tools and Checklists 170
8.11. Summary 172
8.12. References 173
Chapter 9. Aging and Genomics: Perspectives for the
Graduate Level Nurse . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .177
DEBRA L . SCHUTTE
9.1. Introduction 177
9.2. The Etiology of Aging 178
9.3. Aging, Genomics, and the Graduate Level Nurse 181
viii Table of Contents
9.4. Summary 185
9.5. References 186
Chapter 10. Respiratory Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .189
RAN HE and JULIA EGGERT
10.1. Introduction 189
10.2. Single-Gene Disorders 189
10.3. Complex Disorders 194
10.4. Case Study 203
10.5. References 205
Chapter 11. Part 1—Genomics of Complex Cardiovascular Diseases . . . . . . . . . . . . .209
JENNIFER R . DUNGAN, ALLISON A . VORDERSTRASSE,
SARA M . JORDAN and ERICA A . JULIAN
11.1. Introduction 209
11.2. Coronary Artery Disease (or Coronary Heart Disease) 210
11.3. Genetic Background 210
11.4. Genome-Wide Association Studies (GWAS) for CAD 210
11.5. The 9p21 Candidate Locus for CAD 211
11.6. Early-Onset CAD 213
11.7. Atherosclerosis/Arteriosclerosis 214
11.8. Dyslipidemias 214
11.9. Events: Myocardial Infarction and Survival 214
11.10. Gene Expression/Transcriptomics 215
11.11. Metabolomics 217
11.12. Pharmacogenomics Related to CAD Management 217
11.13. Essential Hypertension 218
11.14. Genetic Basis for Essential Hypertension 218
11.15. Early Candidate Genes in Hypertension 218
11.16. Genome Wide Associations for Essential Hypertension 220
11.17. Gene Expression/Transcriptomics 222
11.18. Metabolomics 222
11.19. Pharmacogenetics Related to Management of Essential Hypertension 223
11.20. Genomic Platforms and Their Clinical Utility 223
11.21. Nursing Implications Related to Genomic Testing Platforms 228
11.22. Conclusions 229
11.23. Future Directions 229
11.24. References 230
Chapter 11. Part 2—Single Gene Cardiovascular Disorders . . . . . . . . . . . . . . . . . . . . .239
SARAH RACE and MEGAN GROVE
11.25. Introduction 239
11.26. Genetic Testing in Single Gene Cardiovascular Disorders 240
11.27. Role of Family History Taking in Inherited Single Gene Cardiovascular
Disorders 241
Table of Contents ix
11.28. Structural Inherited Single Gene Cardiovascular Disorders 242
11.29. Nonstructural Single Gene Cardiovascular Disorders 244
11.30. Future Genomic Technologies in Inherited Single-Gene
Cardiovascular Care 249
11.31. Summary 250
11.32. References 250
Chapter 12. Genetics in Hematology . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .255
EDWARDA M . BUDA-OKREGLAK and DIANE C . SEIBERT
12.1. Introduction 255
12.2. Red Blood Cell Disorders 255
12.3. White Blood Cell (WBC) Disorders 264
12.4. Platelet Disorders 268
12.5. Coagulation Disorders 272
12.6. Inherited Bone Marrow Failure Syndromes (IBMFS) 277
12.7. Acquired Bone Marrow Failure Syndromes (ABMFS) 279
12.8. Hematologic Neoplasms 280
12.9. References 285
Chapter 13. Genetics and Genomics of Neurologic Disorders . . . . . . . . . . . . . . . . . . .289
SHEILA A . ALEXANDER
13.1. Introduction to the Nervous System 289
13.2. Single Gene Disorders of the Nervous System 289
13.3. Common Complex Disorders of the Central Nervous System 307
13.4. Conclusion 317
13.5. References 317
Chapter 14. Endocrine Disorders . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . . .327
CATHERINE LING and LUCIA NOVAK
14.1. Introduction 327
14.2. Inheritance Patterns 327
14.3. Assessing risk 333
14.4. Pharmacogenomics 339
14.5. Genetic Testing, Counseling, Ethical Implications 340
14.6. Acknowledgments 340
14.7. References 340
Chapter 15. Cancer Genomics: Current and Future Concepts to Define
Health Care Practices and Personalized Care . . . . . . . . . . . . . . . . . . . . . .345
QUANNETTA T . EDWARDS, ANN H . MARADIEGUE
and KORY W . JASPERSON
15.1. Definition of Terms Associated with Cancer Genetics and
Used in this Chapter 345
15.2. Introduction 346
15.3. Carcinogenesis—A Primer 348