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health promo_genetic

Gene the biologic unit of heredity
Gene therapy processes to correct defective genes by either replacing, repairing or regulating the defective gene.
Genetics study of function & effect of single genes inherited from parents
Genome the complete set of genetic material for any organism, entire DNA structure
Genomics the study of genomes, including interaction between genes, between genes and environment & looks at total DNA structure
Pharmacogenetics study of inherited differences in drug metabolism response
Pharmacogenomics study of the whole genome to determine multiple individual genetic factors which influence a person’s response to specific medications
Phenotype Whether a person manifests the trait of their genotype.
Proteomics the study of the proteins produced by a genome (proteome). Studying whether gene therapy can modify the synthesis of these proteomes
Public Health Genomics (PHG) is defined as a multidisciplinary field concerned with the effective and responsible translation of genome based knowledge and technologies to improve population health"
Genetics/Genomics Specific to Public Health Nursing All humans are 99.9% identical at the DNA level. The environment causes most genetic mutations. Public health nurses need to be able to identify the elements that may cause genetic mutations.
Personalized Health Care: uses new methods of molecular analysis to better manage a patient’s disease or predisposition toward a disease. It aims to achieve optimal medical outcomes by helping physicians and patients choose the disease management approaches likely to work best in
Personalized Health Care continued Such approaches may include genetic screening programs that more precisely diagnose diseases and their sub-types, or help physicians select the type and dose of medication best suited to a certain group of patients
U.S. Department of Health and Human Services – Personalized Health Care Initiative Goal = improve safety, quality and effectiveness of health care.
CDC says Public health nurses should be able to: Demonstrate basic knowledge of the role that genomics plays in the development of disease. Identify limits of his or her genomic expertise. Make appropriate referrals to those with more genomic expertise.
Competencies identified by National Coalition of Health Professional Education in Genetics (NCHPEG) Identify areas where professional development related to genetics and genomics would be helpful. Health related genetic information can have social and psychological implications for individuals and families. Know make a referral to a genetics profes.
Human genome project Launched by the US dept of eneryg and Nih in which mapping of all 25,000 genes in human DNA
Goals of Human Genome Project Determine the sequence of 3 billion chemical base pairs that make up DNA.Improve tools available for data analysis. Transfer genetic technology to the private sector. Research the ethical, legal and social implications on genetic testing and research.
single nucleotide polymorphism (SNP) occur in every 100-300 bases along the 3 billion base pairs that make up the human genome and SNP’s are markers of drug response & disease susceptibility.
IMPACT ON NURSING identifying SNP’s allow HCP’s to prescribe meds that will work for that client based on their genetic makeup
Pharmacogenomic Example in use today – Childhood leukemia Thiopurine agent, 6 –mercaptopurine = drug and Thiopurine methyltransferase = enzyme needed to inactivate drug. Kids with nonfunctioning TMPT alleles suffer sever toxicity to Thiopurine (need 1/10 dose)
Thiopurine agent, 6 –mercaptopurine .1st drug in history to include pharmacogenomic instructions on its label. Prescriptions are tailored to the genetic make-up of the child
Gene therapy: study approved in 1999 to determine the safety & effectiveness of a recombinant adenovirus when it is injected into brain tissue. :
gene therapy goal to carry a gene called Human interferon beta (hiFN) into brain tumor cells to treat clients with a brain tumor not cured with traditional Rx
Gene therapy humulin insulin Human insulin gene inserted into bacterial cell genomes causes bacterial cell to produce more insulin.Source of manufactured Humulin insulin.
Roche Amplichip Cytochrome P450 Genotype testing available now – DNA extracted from blood sample, and applied to CYP450  genetic results  sends results to MD or NP or place on a smart card for you to keep in your wallet.
Roche Amplichip Cytochrome P450 Genotype testing available now –continue Knowing your specific genome allows HCP to prescribe right drug in right dose at right time with no adverse effects
Conduct genetic risk assessments utilizing standardized genomic tools The easiest tool to use is the PEDIGREE
genetic risk assessment The top fifteen leading causes of mortality in the United States all have a genetic and/or genomic component with heart diseases, cancers, and cerebrovascular diseases representing the top three causes of mortality
. Identify and refer clients and populations at risk for common genomic diseases Healthy People 2020: G-2 increase the proportion of persons with newly diagnosed colorectal cancer who receive gentic testing. G-1 breast or ovarion receives genetic counseling
ETHICAL, LEGAL AND SOCIAL ISSUES IN GENETIC AND GENOMIC PRACTICE Protecting rights for autonomy, privacy, and reduced risk for harm is the responsibility of all nurses
WHAT PAST EVENTS SHAPE PUBLIC OPINION REGARDING GENETICS/GENOMICS? Tuskegee - syphillis - longitudal study - following men with syphillis at first no antibiotec then one came out but did not treat the men in the longitudal study. Nurse in the study blew the whistle.
Ethical issue eugenics->Encouraged “fit” to reproduce and “unfit” to not. Segregation of the genetically unfit into institutions. 1900-10 -forced sterilizations. 1927-MR sterlized. Nazi movement.
Unsavory past of genetic testing Mandatory Sickle Cell screening 1970’s – Poorly written state laws which lacked expert consultation & often represented untruths about the sickle cell anemia.
Sickle cell testing Carriers discriminated against in employment and insurance due to misunderstanding that the trait was pathogenic.Only African Americans required by law to be tested.Great damage to credibility of genetic screening due to poorly written laws
Discrimination and stigmatization - research Deciding whether to restrict a study to a specific racial/ethnic group involves the ethical principle of justice. NIH Health Revitalization Act of 1993 is US Federal law which requires that results of clinical trials include women and minorities.
Discrimination and stigmatization - research continued. If a “bad gene” is discovered in an ethnic group, specific communities may suffer discrimination and stigmatization.This brings into affect the ethical principles related to group harm.
Discrimination and stigmatization In pharmacogenomics the development of drugs to benefit specific ethnic groups with a certain genotype might occur at the expense of other ethnic groups
Created by: cjnnovak