1. Gene Therapy and Pharmacogenomics
Chapter 8
Gene Therapy and Pharmacogenomics
Copyright © 2014 by Mosby, an imprint of Elsevier Inc.

2. Basic Principles of Genetic Inheritance
Nucleic acids
DNA and RNA
Chromosomes
Genes
Alleles
Genotype
Phenotype
Copyright © 2014 by Mosby, an imprint of Elsevier Inc.

3. Basic Principles of Genetic Inheritance (cont’d)
Inherited disease/genetic disease
Acquired disease
Genetic predisposition
Copyright © 2014 by Mosby, an imprint of Elsevier Inc.

4. Copyright © 2014 by Mosby, an imprint of Elsevier Inc.
Genetics
Deoxyribonucleic acid (DNA)
Chromosomes
Chromatin
Four organic bases in DNA
Adenine (A)
Thymine (T)
Guanine (G)
Cytosine (C)
Copyright © 2014 by Mosby, an imprint of Elsevier Inc.

5. Human Genome Project (HGP)
Started in 1990, completed in 2003
Identified the estimated 30,000 genes and 3 billion base pairs in the DNA of an entire human genome
Improved prevention, treatment, and cures for disease
Developed new tools for genetic data analysis and storage
Copyright © 2014 by Mosby, an imprint of Elsevier Inc.

6. Copyright © 2014 by Mosby, an imprint of Elsevier Inc.
Gene Therapy
Using genetic material to treat or prevent disease
Gene transfer
Recombinant forms of drugs (rDNA)
Regulatory and ethical issues
Eugenics
Copyright © 2014 by Mosby, an imprint of Elsevier Inc.

7. Copyright © 2014 by Mosby, an imprint of Elsevier Inc.

8. Classroom Response Question
Which statement regarding gene therapy is accurate?
Gene therapy is commonly used for the treatment of disease.
During gene therapy, segments of RNA are injected into the patient’s body.
Bacteria are used for gene transfer.
The majority of the world’s insulin supply has been produced by recombinant gene technology.
Correct answer: D
Rationale: The majority of the world’s medical insulin supply has been produced by this method for well over a decade. Gene therapy is not commonly used. During gene therapy, segments of DNA are injected into the patient’s body, and viruses are used for gene transfer.
Copyright © 2014 by Mosby, an imprint of Elsevier Inc.

9. Copyright © 2014 by Mosby, an imprint of Elsevier Inc.
Gene Therapy (cont’d)
Pharmacogenomics
Genetic polymorphisms
Personalized medicine
DNA microarray technology
Clinical applications of pharmacogenomics
Copyright © 2014 by Mosby, an imprint of Elsevier Inc.

10. Copyright © 2014 by Mosby, an imprint of Elsevier Inc.
Nursing Implications
Take thorough patient, family, and drug histories
Recognize situations that may warrant further investigation through genetic testing
Identify resources for patients
Maintain confidentiality and privacy
Ensure that informed consent is obtained
Copyright © 2014 by Mosby, an imprint of Elsevier Inc.

11. Classroom Response Question
A patient’s daughter asks the nurse, “What did the test results show? I know they were doing genetic testing on my mother.” How should the nurse respond?
Refer the daughter to the patient’s physician.
Review the patient’s medical record with the daughter.
Ask the patient about the test results when the daughter enters the room.
Remind the daughter that private information cannot be discussed without the patient’s permission.
Correct answer: D
Rationale: Nurses must protect against improper disclosure of information to other family members, friends of the family, other health care providers, and insurance providers. Nurses share the responsibility with other health care providers to protect patients and their families against the misuse of the patients’ genetic information.
Copyright © 2014 by Mosby, an imprint of Elsevier Inc.
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