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

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

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

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.

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.

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.

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

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.

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.

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.

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. Elsevier items and derived items © 2009, 2005, 2001 by Saunders, an imprint of Elsevier Inc.