Genetics and Public Health Nursing – Flashcards

the biologic unit of heredity

processes to correct defective genes by either replacing, repairing or regulating the defective gene.

study of function & effect of single genes inherited from parents

the complete set of genetic material for any organism, entire DNA structure

the study of genomes, including interaction between genes, between genes and environment & looks at total DNA structure

A person's combination of alleles

study of inherited differences in drug metabolism response

study of the whole genome to determine multiple individual genetic factors which influence a person's response to specific medications.

Whether a person manifests the trait of their genotype

the study of the proteins produced by a genome (proteome). Studying whether gene therapy can modify the synthesis of these proteomes.

a multidisciplinary field concerned with the effective and responsible translation of genome based knowledge and technologies to improve population health

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.

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 the context of a patient's genetic and environmental profile. 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

Goal = improve safety, quality and effectiveness of health care.

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: ....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 how and when to make a referral to a genetics professional

launched by the US Department of Energy and the National Institutes of Health (NIH) in 1990. Scheduled for completion in 2005, completed in 2003, Mapped all 25,000 genes in human DNA - 6 countries (China, France, Germany, Japan, United Kingdom & United States) and 20 research centers participated

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.

to look at human variations in DNA sequence in the form of single nucleotide polymorphism (SNP)

occur in every 100-300 bases along the 3 billion base pairs that make up the human genome. SNP's are markers of drug response & disease susceptibility

every year over 106,000 people in the US die from adverse drug reactions & 2.2 million suffer serious but not deadly side effects - identifying SNP's allow HCP's to prescribe meds that will work for that client based on their genetic makeup

Pythagoras 6th century BC = father of pharmacogenetics told his followers to: Avoid Fava beans 1950's discovered - inherited deficiency of glucose-6-phosphate dehydrogenase (G6PD), a RBC enzyme, and eating uncooked Fava beans can cause hemolytic anemia.

Childhood leukemia Thiopurine agent, 6 -mercaptopurine = drug Thiopurine methyltransferase = enzyme needed to inactivate drug Kids with nonfunctioning TMPT alleles suffer sever toxicity to Thiopurine (need 1/10 dose) 1st drug in history to include pharmacogenomic instructions on its label Prescriptions are tailored to the genetic make-up of the child

to determine the safety & effectiveness of a recombinant adenovirus when it is injected into brain tissue. 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

Human insulin gene inserted into bacterial cell genomes causes bacterial cell to produce more insulin

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.

allows HCP to prescribe right drug in right dose at right time with no adverse effects = Personalized medicine

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 (Heron, 2009) Health care professionals in all areas will increasingly use genetics/genomics technology and information to improve the health of those they serve

Easiest tool to use in genomics to conduct genetic risk - Drawing family genetic history

G-2 - Increase the proportion of persons with newly diagnosed colorectal cancer who receive genetic testing to identify Lynch syndrome G-1 - Increase the proportion of women with a family history of breast and/or ovarian cancer who receive genetic counseling.

autonomy, privacy, and reduced risk for harm is the responsibility of all nurses.

Encouraged "fit" to reproduce and "unfit" to not Segregation of the genetically unfit into institutions 1900-1910 Forced sterilizations 1927 - US Supreme Court ruling upholding compulsory sterilization of mentally retarded for the "protection and health of the state." Justice Holmes quote in case of Buck vs Bell "three generations of imbeciles is enough". Idea to maintain a "genetically fit" race associated with the Nazi movement.

At the start of the study, there was no proven treatment for syphilis. But even after penicillin became a standard cure for the disease in 1947, the medicine was withheld from the men. The Tuskegee scientists wanted to continue to study how the disease spreads and kills. The experiment lasted four decades, until public health workers leaked the story to the media.

uly 1971 Massachusetts became the first state to mandate screening for sickle cell disease and trait as a requirement for attending school. 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 - ex/ Georgia law "Education-Immunization for Sickle Cell Anemia" represented sickle cell as a contagious disease.

US Federal law which requires that results of clinical trials include women and minorities.

screening program for carriers of thalassemia in an effort to reduce the incidence. Carriers were identified as part of the study. When the team returned several years later, they found the individuals identified as carriers had suffered. Marriages could not be arranged, social status of their families were impaired and the carriers were considered untouchable by the community. The education efforts made to help stop the spread of the disease had instead caused social isolation.

The Ethical, Legal, & Social Implications Research Program of the National Human Genome Research Institute was established in 1990 as part of the Human Genome Project. The goal was to foster basic and applied research on the ethical, legal & social implications of genetic and genomic research for individuals, families and communities.

Privacy and fair use in the interpretation of genetic information Clinical integration of genetic technologies Issues regarding genetic research Education.

launched a national public health campaign, called the U.S. Surgeon General's Family History Initiative, to encourage all American families to learn more about their family health history.

Genetic information is: PERMANENT PERSONAL POWERFUL PREDICTIVE PRIVATE

GINA's health coverage non-discrimination protections do not extend to life insurance, disability insurance and long-term care insurance. GINA does not mandate coverage for any particular test or treatment. GINA's employment provisions generally do not apply to employers with fewer than 15 employees. For health coverage provided by a health insurer to individuals, GINA does not prohibit the health insurer from determining eligibility or premium rates for an individual based on the manifestation of a disease or disorder in that individual. For employment-based coverage provided by group health plans, GINA permits the overall premium rate for an employer to be increased because of the manifestation of a disease or disorder of an individual enrolled in the plan, but the manifested disease or disorder of one individual cannot be used as genetic information about other group members to further increase the premium. GINA does not prohibit health insurers or health plan administrators from obtaining and using genetic test results in making health insurance payment determinations.

1970's - genetic clinic coordinators & genetic counselors before 1990's - genetic nurses dealt with uncommon conditions with specific patterns of inheritance Early 1990's - BRCA-1 gene discovered ability to offer predictive genetic testing 2004 - specific training developed for nurses in field of genetics/genomics 2006 - competencies to be included in nursing education

Established September 2005 Revised 2012 -

DNA data are made broadly available for secondary analysis through publicly accessible or restricted databases How specimens and data are collected and stored, for how long, by whom, and for what purposes varies tremendously. However, most genetic and genomic research projects share several common features that challenge the established norms of informed consent

2000 - Virginia Commonwealth University forced to halt all projects involving human subjects. The father of a study participant complained after reading a survey instrument mailed to his daughter asking for specific health information about her family.The father asked why informed consent was not sought from family members.

Following the US case of John Moore, a patient whose cell-line was patented and sold to the drug company Sandoz for $15 million, issues of property rights are increasingly being raised in relation to tissue samples. Blood samples that are donated for genetic testing during the pharmacogenomics part of a clinical trial may potentially be extremely valuable commodities for genetic-based drug development. In addition to their consent to take part in the research, patients are required to agree in writing that they have no property rights over the sample or any data generated from it

20 percent of human genes have been patented in the United States, primarily by private firms and universities. Gene patents were central to the biotech boom of the 1980s and 1990s. The earliest gene patents were obtained around 1978 on the gene for human growth hormone. Of the patented genes, about 63 percent are assigned to private firms and 28 percent are assigned to universities.

genetic tests that are marketed directly to consumers via television, print advertisements, or the Internet. This form of testing, which is also known as at-home genetic testing, provides access to a person's genetic information without necessarily involving a doctor or insurance company in the process.

Mutation present but: May be acquired, not inherited May never lead to disease May go undetected