Chapter_008.pptx

Chapter 8 Gene Therapy and Pharmacogenomics  Basic Principles of Genetic Inheritance  Nucleic acids  DNA and RNA  Chromosomes  Genes  Alleles  Dominant  Recessive  Genotype  Phenotype 2 ...

Chapter 8 Gene Therapy and Pharmacogenomics  Basic Principles of Genetic Inheritance  Nucleic acids  DNA and RNA  Chromosomes  Genes  Alleles  Dominant  Recessive  Genotype  Phenotype 2  Basic Principles of Genetic Inheritance (Cont.)  Inherited disease  Genetic disease  Acquired disease  Genetic predisposition 3  Genetics  Genetics  The study of the structure, function, and inheritance of genes.  Heredity  The qualities that are genetically transferred from one generation to the next during reproduction.  Genomics 4  Genetics  Deoxyribonucleic acid (DNA)  Chromosomes  Chromatin  Four organic bases in DNA  Adenine (A)  Thymine (T)  Guanine (G)  Cytosine (C) 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  Developed new tools for genetic data analysis and storage 6  Gene Therapy  Experimental technique using genetic material to treat or prevent disease  Replacing a mutated gene with a healthy copy of the gene  Introducing a new gene into the body to help fight a disease  Inactivating a mutated gene that is functioning improperly 7  Gene Therapy (Cont.)  Gene transfer: segments of DNA are injected into the patient’s body  Recombinant DNA (rDNA): artificially produced DNA splices  Limitations to gene therapy  Viruses used for gene transfer can induce viral disease and can be immunogenic in the human host.  Proteins produced by artificial methods can be immunogenic. 8  rDNA Technology  Use of rDNA vectors in the laboratory to make recombinant forms of drugs  Hormones, vaccines, antitoxins, and monoclonal antibodies  Escherichia coli bacterial genome: used to manufacture a recombinant form of human insulin 9  Audience Response System Question #1 Which statement regarding gene therapy is accurate? A. Gene therapy is commonly used for the treatment of disease. B. During gene therapy, segments of RNA are injected into the patient’s body. C. Bacteria are used for gene transfer. D. The majority of the world’s insulin supply has been produced by recombinant gene technology. NOTE: No input is required to proceed. 10  Answer to System Question #1 ANS: D 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 (not RNA) are injected into the patient’s body, and viruses are used for gene transfer. 11  Regulatory and Ethical Issues Regarding Gene Therapy  National Institutes of Health (NIH) Guidelines for Research Involving Recombinant DNA Molecules  Eugenics: intentional selection before birth of genotypes that are considered more desirable than others.  U.S. gene therapy research is limited to somatic cells only.  Gene therapy in germ-line (reproductive) cells is currently not approved for funding by the NIH. 12  Pharmacogenetics and Pharmacogenomics  Pharmacogenetics: general term for the study of genetic variations in drug response and focuses on single-gene variations  Pharmacogenomics: combination of two scientific disciplines: pharmacology and genomics  Involves how genetics (genome) affect the body’s response to drugs  Individualized drug therapy based on a patient’s genetic makeup 13  Nursing Implications  Take thorough patient, family, and drug histories.  Recognize situations that may warrant further investigation through genetic testing.  Identify resources for patients.  Teaching  Maintain confidentiality and privacy.  Ensure that informed consent is obtained. 14  Audience Response System Question #2 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? A. Refer the daughter to the patient’s physician. B. Review the patient’s medical record with the daughter. C. Ask the patient about the test results when the daughter enters the room. D. Remind the daughter that private information cannot be discussed without the patient’s permission. NOTE: No input is required to proceed. 15  Answer to System Question #2 ANS: D 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. 16