Genomic Essentials for Graduate Level Nurses

Edited by:
Diane C. Seibert, Ph.D., WHNP-BC, ANP-BC, FAANP, FAAN, Uniformed Services University of the Health Sciences
Quannetta T. Edwards, Ph.D., FNP-BC, WHNP-BC, AGN-BC, FAANP, Western University of Health Sciences
Ann H. Maradiegue, Ph.D., FNP-BC, FAANP, James Madison University
Susan T. Tinley, Ph.D., RN, CGC (Ret.), Creighton University, Emerita

ISBN: 978-1-60595-094-5, ©2016, 454 pages, 7×10, Soft cover


  • Presents genetics and genomic essentials specifically for graduate-level nurses
  • Prenatal care, cardiology, cancer and other disease systems covered in depth by chapter experts
  • Key chapter devoted to ethical and legal issues and to future technology

Designed as both a nursing reference and course text, this book presents genetics and genomic essentials specifically for graduate-level nurses. Preliminary chapters cover the basics of genetics, risk assessment and genetic testing. With chapter contributions by topic experts, the remainder of the book is organized by disease system and covers genetics and genomics in prenatal care, neurology, cancer, respiratory function, cardiology, pharmacogenomics, hematology and others. Key chapters on ethical and legal issues and future technology are also included. This volume is well-suited for nursing faculty, nursing students, nurse leaders, and other nursing professionals with a need for further information on genetics and genomics in a nursing role and across a variety of specialties.

List of Contributors

Chapter 1. Introduction to Basic Genetics and Genomics
Susan T. Tinley
1.1. Introduction
1.2. DNA Structure and Replication
1.3. Numerical and Structural Cytogenetic Abnormalities
1.4. DNA and RNA Function
1.5. Mutations in the Genetic Code
1.6. Functional Effects of Mutations
1.7. Mendelian Patterns of Inheritance
1.8. Alterations to Mendelian Patterns
1.9. Non-Mendelian Patterns of Inheritance
1.10. Advances in Genomics and Pharmacogenomics
1.11. References

Chapter 2. A Primer: Risk Assessment, Data Collection, and Interpretation for Genomic Clinical Assessment1
Ann H. Maradiegue and Quannetta T. Edwards
2.1. Definition of Terms Important for this Chapter
2.2. Introduction
2.3. Risk Assessment RAPID Approach-—Step 1 Data Collection
2.4. RAPID Risk Assessment Approach-—Identification of Red Flags
2.5. Pedigree Challenges-—Confounding Factors in Inheritance Patterns
2.6. RAPID 2.3: Step 3-—Determination of Risk Probability
2.7. RAPID 2.4: Step 4-—Risk Assessment-—Review Data and Communicate Risk to Client/Family
2.8. RAPID 2.5: Step 5-—Risk Management
2.9. Nursing Implications of the Genomic Family History and Risk Assessment
2.10. References 62

Chapter 3. Testing and Counseling for Genetic and Genomic Conditions
Susan T. Tinley
3.1. Introduction
3.2. Genetic Testing
3.3. Cytogenetics
3.4. Molecular or DNA Testing
3.5. Purpose of Testing
3.6. Genetic Counseling
3.7. Elements of Informed Consent for Genetic Testing
3.8. Support of Client Coping and Use of Genetic/Genomic Information
3.9. Genomics and Genetic Counseling
3.10. Conclusion
3.11. References

Chapter 4. Ethical, Legal, and Social Implications in Genomic Advanced Practice Nursing
Kathleen Sparbel and Martha Turner
4.1. Introduction
4.2. Approaches in Bioethics
4.3. Ethical Standards and Ethical Competence in Nursing
4.4. Genetic and Genomic Competencies
4.5. Risk Assessment and Interpretation
4.6. Genetic Education, Counseling, Testing, and Results Interpretation
4.7. Clinical Management
4.8. Legal and Social Implications of Genetic and Genomic Information
4.9. Conclusion
4.10. References

Chapter 5. Essentials of Pharmacogenomics
June Zhang, Yu Liu, Jeffery Fan, Bradley T. Andresen and Ying Huang
5.1. Introduction to Pharmacogenomics
5.2. Pharmacokinetics (PK), Pharmacodynamics (PD), and Pharmacogenomics
5.3. Pharmacogenomics of Individual Drugs
5.4. Overall Summary and Future Opportunities for Nurses
5.5. References

Chapter 6. Preconceptual and Prenatal Genomics
Michelle Munroe, Diane C. Seibert and Dana Knutzen
6.1. Introduction
6.2. Assessing Risk and the Family Health History (FHH)
6.3. Preconception Care
6.4. Epigenetics
6.5. Smoking
6.6. Seizure Disorder
6.7. Neural Tube Defect (NTD)
6.8. Genetic Conditions Affecting Fertility
6.9. Congenital Adrenal Hyperplasia
6.10. Fragile X Syndrome
6.11. Turner Syndrome
6.12. Klinefelter Syndrome
6.13. Cystic Fibrosis
6.14. Assisted Reproductive Technologies
6.15. Preimplantation Diagnostic Testing (PGD)
6.16. Maternal Genetic Conditions That May Adversely Affect Pregnancy Outcomes
6.17. Gestational Diabetes
6.18. Sickle Cell Disease
6.19. Cystic Fibrosis
6.20. Maternal Phenylketonuria (PKU)
6.21. Pregnancy Complications with a Genomic Etiology
6.22. References

Chapter 7. Newborn Screening
Karen L. Zanni
7.1. Introduction
7.2. History of Newborn Screening
7.3. New Technologies
7.4. Ethical, Legal, Social, and Practical Considerations
7.5. Implications for Educators, Researchers, and Administrators
7.6. References

Chapter 8. Genetic Considerations in Childhood
Heather L. Johnson, Joanna Spahis and Dale H. Lea
8.1. Introduction
8.2. Assessment of Children with Atypical Features, Growth, or Development
8.3. Dysmorphology
8.4. Common Genetic Conditions
8.5. Growth
8.6. Short Stature
8.7. Tall Stature
8.8. Atypically Developing Children
8.9. The Six Core Elements of Health Care Transition
8.10. Using Transition Tools and Checklists
8.11. Summary
8.12. References

Chapter 9. Aging and Genomics: Perspectives for the Graduate Level Nurse
Debra L. Schutte
9.1. Introduction
9.2. The Etiology of Aging
9.3. Aging, Genomics, and the Graduate Level Nurse
9.4. Summary
9.5. References

Chapter 10. Respiratory Disorders
Ran He and Julia Eggert
10.1. Introduction
10.2. Single-Gene Disorders
10.3. Complex Disorders
10.4. Case Study
10.5. References

Chapter 11. Part 1-—Genomics of Complex Cardiovascular Diseases
Jennifer R. Dungan, Allison A. Vorderstrasse, Sara M. Jordan and Erica A. Julian
11.1. Introduction
11.2. Coronary Artery Disease (or Coronary Heart Disease)
11.3. Genetic Background
11.4. Genome-Wide Association Studies (GWAS) for CAD
11.5. The 9p21 Candidate Locus for CAD
11.6. Early-Onset CAD
11.7. Atherosclerosis/Arteriosclerosis
11.8. Dyslipidemias
11.9. Events: Myocardial Infarction and Survival
11.10. Gene Expression/Transcriptomics
11.11. Metabolomics
11.12. Pharmacogenomics Related to CAD Management
11.13. Essential Hypertension
11.14. Genetic Basis for Essential Hypertension
11.15. Early Candidate Genes in Hypertension
11.16. Genome Wide Associations for Essential Hypertension
11.17. Gene Expression/Transcriptomics
11.18. Metabolomics
11.19. Pharmacogenetics Related to Management of Essential Hypertension
11.20. Genomic Platforms and Their Clinical Utility
11.21. Nursing Implications Related to Genomic Testing Platforms
11.22. Conclusions
11.23. Future Directions
11.24. References

Chapter 11. Part 2-—Single Gene Cardiovascular Disorders
Sarah Race and Megan Grove
11.25. Introduction
11.26. Genetic Testing in Single Gene Cardiovascular Disorders
11.27. Role of Family History Taking in Inherited Single Gene Cardiovascular Disorders
11.28. Structural Inherited Single Gene Cardiovascular Disorders
11.29. Nonstructural Single Gene Cardiovascular Disorders
11.30. Future Genomic Technologies in Inherited Single-Gene Cardiovascular Care
11.31. Summary
11.32. References

Chapter 12. Genetics in Hematology
Edwarda M. Buda-Okreglak and Diane C. Seibert
12.1. Introduction
12.2. Red Blood Cell Disorders
12.3. White Blood Cell (WBC) Disorders
12.4. Platelet Disorders
12.5. Coagulation Disorders
12.6. Inherited Bone Marrow Failure Syndromes (IBMFS)
12.7. Acquired Bone Marrow Failure Syndromes (ABMFS)
12.8. Hematologic Neoplasms
12.9. References

Chapter 13. Genetics and Genomics of Neurologic Disorders
Sheila A. Alexander
13.1. Introduction to the Nervous System
13.2. Single Gene Disorders of the Nervous System
13.3. Common Complex Disorders of the Central Nervous System
13.4. Conclusion
13.5. References

Chapter 14. Endocrine Disorders
Catherine Ling and Lucia Novak
14.1. Introduction
14.2. Inheritance Patterns
14.3. Assessing risk
14.4. Pharmacogenomics
14.5. Genetic Testing, Counseling, Ethical Implications
14.6. Acknowledgments
14.7. References

Chapter 15. Cancer Genomics: Current and Future Concepts to Define
Health Care Practices and Personalized Care
Quannetta T. Edwards, Ann H. Maradiegue and Kory W. Jasperson
15.1. Definition of Terms Associated with Cancer Genetics and Used in this Chapter
15.2. Introduction
15.3. Carcinogenesis-—A Primer
15.4. Hereditary Cancer Syndromes
15.5. Hereditary Colon Cancer-—Lynch Syndrome
15.6. Genomics of Cancer-—New and Future Advances and Technologies
15.7. Utilization of the Rapid Approach: Selected Breast Cancer Case
15.8. References

Chapter 16. Genomics in Nursing Education, Research, Leadership, and Practice
Susan T. Tinley, Quannetta T. Edwards, Ann H. Maradiegue and Diane C. Seibert
16.1. Introduction
16.2. Nursing Education
16.3. Nursing Research
16.4. Nursing Leadership
16.5. Nursing Practice
16.6. References

Chapter 17. Genomic Technologies
Yvette P. Conley
17.1. Introduction
17.2. Next Generation Genome Sequencing
17.3. Gene Expression Profiling
17.4. Epigenomics
17.5. Conclusion
17.6. References

Chapter 18. Genomics and Symptomatology
Quannetta T. Edwards, Susan T. Tinley, Diane C. Seibert and Ann H. Maradiegue
18.1. Introduction
18.2. Genomics and Cancer-Related Fatigue
18.3. Genomics and Pain
18.4. Nursing Role and Symptomatology
18.5. References


ISBN: 978-1-60595-094-5, ©2016, 454 pages, 7×10, Soft cover



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