NUR 417 Genomics in Nursing Quiz #2

Chapter 11 sections

1. Classic population-based screening criteria include A.the test should be acceptable to the population. B.there should be a recognizable latent or early symptomatic stage of illness. C.facilities for diagnosis and treatment must be made available. D.All of the above 2. In 1934, Dr. Asbjorn Folling developed a test to detect phenylpyruvic acid in the urine (known as pheylketonuria) of infants. A.True B.False 3. The philosophical examination of moral reasoning about what is right or what is what wrong with regards to personnel and societal actions is called A.ethics. B.pride. C.justice. D.collective conscious. 4. A report titled Principles and Practice of Screening for Disease, written by Wilson and Jungner, was commissioned by the A.United States government. B.Department of Health and Human Services. C.WHO. D.Maternal Child Health Bureau (MCHB). 5. During the late 1800s and early 1900s U.S. military employed preventative medicine to halt the spread of infectious disease among troops, while civilians organized Boards of Health to address rampant spread of diseases to maintain healthy populations. A.True B.False Answers: 1. D; 2. B; 3. A; 4. C; 5. A 1. Early treatment of PKU is associated with improved intellectual outcome, and it is rarely diagnosed before 6 months of age without newborn screening. A.True B.False 2. The goals of screening for Congenital Adrenal Hyperplasia include A.preventing a life-threatening adrenal crisis. B.preventing male sex assignment to a virilized female. C.preventing short stature and psychosexual disturbances in both sexes. D.All of the above 3. Biotinidase deficiency is included on the newborn screen because it is a A.potentially tragic illness if not diagnosed. B.condition that has a low-cost treatment. C.rare and untreatable condition. D.Both A and B 4. Hearing loss is more common in infants A.delivered by cesarean section. B.admitted to intensive care units. C.Both A and B D.None of the above 5. Secondary targets should be obtained A.when the infant has his or her first newborn screen blood test. B.in follow-up testing if indicated. C.Both A and B D.None of the above Answers: 1. A; 2. D; 3. D; 4. B; 5. C 1. Justice as it relates to the newborn screen means A.screening of infants is based on socioeconomic groups. B.screening of infants must be undertaken with fairness and equity. C.screening of infants is the result of undue influence or coercion. D.disproportionate screening based on maternal age. 2. As a result of improved screening technologies, scientists can now screen for prenatal alcohol exposure. A.True B.False 3. A teenage mother delivers a sick newborn and the infant is admitted to your unit. Your state requires parental consent before a newborn screen can be obtained. The nurse caring for the sick newborn does not believe that the mother has the capacity to make a decision about the newborn screen for her newborn because she is a teen. The nurse obtains the newborn screen without asking for parental consent. Which ethical principle or concept did the nurse fail to acknowledge in this situation? A.Fidelity B.Surrogacy C.Informed consent D.All of the above 4. Proponents to the retaining of DNA blood samples for the entire population suggest that the scientific and medical benefits of retaining blood samples far outweigh the privacy risk. This viewpoint is an example of which ethics' principle? A.Autonomy B.Non-maleficence C.Self-determination D.Beneficence 5. When the health care provider fails to follow up on an abnormal newborn screen, which ethical principle did he or she fail to follow? A.Negligence B.Abuse C.Misconduct D.Non-maleficence Answers: 1. B; 2. A; 3. D; 4. D; 5. D

Chapter 9 sections

1. A man who is the son of a woman with Huntington disease has what chance of having inherited the disease for this condition? A.1 in 4 B.1 in 2 C.2 in 3 D.1 in 3 2. Personal health care information A.is not private. B.is not confidential. C.may never be revealed to another entity under any circumstances. D.may become known to others as the result of genetic testing. 3. Before signing a consent form, the patient should A.consult their attorney. B.read the document carefully and ensure that all parts of it are understood. C.insist on seeing the patient ombudsperson. D.be premedicated for the procedure. Answers: 1. B; 2. D; 3. B 1. Newborn screening A.is performed only after written parental informed consent. B.is a population-based screening program undertaken by state health departments. C.provides definitive diagnoses. D.may be performed any time during the first year of life with equally valid results. 2. Genetic testing of minor children A.requires written informed consent from the child. B.is never justified. C.is not recommended as a general rule. D.is not covered by parental health insurance. Answers: 1. B; 2. C 1. If a woman discovers that she is carrying a child with a lethal genetic condition she may A.choose to keep this information private and confidential. B.be forced to have the child against her wishes. C.be referred to an adoption agency. D.be denied insurance for the pregnancy. 2. Presymptomatic genetic testing A.is required as a part of preventive health maintenance. B.is required for life insurance policies. C.is a voluntary decision. D.requires informed consent of a person's spouse. Answers: 1. A; 2. C

Chapter 5 sections

1. Autosomal aneuploidy can result in A.Turner syndrome. B.Down syndrome. C.translocative nullisomy. D.Klinefelter syndrome. 2. Nondisjunction means that a pair of chromosomes A.separated prematurely. B.separated late. C.did not separate. D.fused together within one particular group of cells. 3. Those infants with experienced autosomal aneuploidy are born with significant defects in A.secondary sex characteristics. B.cardiovascular and respiratory function. C.cognition and mental function. D.personality and mood. 4. Aneuploidy is believed to account for approximately what percentage of spontaneous abortions? A.5 B.10 C.25 D.50 5. Trisomy is defined as A.the addition of one chromosome. B.the addition of two chromosomes. C.the subtraction of one chromosome. D.the addition of two chromosomes. Answers: 1. B; 2. C; 3. C; 4. D; 5. A 1. Of those with Edwards syndrome, how many are expected to reach age 10? A.50% B.40% C.20% D.10% 2. Which syndrome is most likely to occur in those with aneuploidy? A.Down B.Edwards C.Patau D.Turner 3. Trisomy is most likely to involve which chromosomes? A.13, 18 B.5, 7 C.13, 25 D.5, 8 4. The evidence for paternal involvement in aneuploidy is A.strong. B.inconsistent. C.unequivocal. D.No research has been done. 5. Aneuploidy has been estimated to occur in approximately every 1 out of every live births. A.10 B.100 C.150 D.200 Answers: 1. D; 2, A; 3. A; 4. B; 5. C 1. Nullisomy results in how many chromosomes? A.44 B.45 C.46 D.47 2. Monosomy refers to A.a missing chromosome. B.two missing chromosomes. C.an extra chromosome. D.two extra chromosomes. 3. In Turner syndrome, there is a(n) A.additional X chromosome. B.loss of an X chromosome. C.extra Y chromosome. 4. The outcome of nullisomy is often A.an extra X chromosome. B.Klinefelter syndrome. C.spontaneous abortion. D.Turner syndrome. 5. Those with autism are believed to be missing segments on what chromosome? A.The 4th chromosome. B.The 8th chromosome. C.The 21st chromosome. D.The X chromosome. Answers: 1. A; 2. A; 3. B; 4. C; 5. D 1. Tetrasomy is A.a relatively common condition. B.a relatively rare condition. C.a condition with little significance on functional ability. D.a leading cause of cancer in the developed world. 2. Edwards syndrome is a A.trisomy of chromosome 13. B.trisomy of chromosome 18. C.trisomy of chromosome 21. D.tetrasomy of chromosome 9p. 3. Pallister−Killian syndrome is an example of A.trisomy 13. B.trisomy 18. C.trisomy 21. D.tetrasomy. 4. Trisomy is the A.addition of a single chromosome. B.addition of two chromosomes. C.deletion of a single chromosome. D.deletion of two chromosomes. 5. The shape of the skull in children with trisomy 18 and 21 is best described as A.macrocephaly. B.microcephaly. C.anencephaly. D.craniostenosis. Answers: 1. B; 2. D; 3. D; 4. A; 5. B 1. Increased maternal age is associated with a(n) risk of having an infant with Down syndrome. A.decreased B.increased C.equivalent D.decreased (but only in cases of monosomy). 2. The incidence of cancer with increased age. A.decreases B.increases C.remains the same D.decreases (but only in cases of monosomy). 3. At the age of 35, the maternal risk of having a child with Down syndrome is 1 in . A.4 B.40 C.400 D.4,000 4. At age 45, the maternal risk of having a child with Down syndrome is 1 in . A.2 B.12 C.24 D.48 5. The risk of aneuploidy increases in association with age. A.True B.False Answers: 1. B; 2. B; 3. C; 4. C; 5. A

Pretest for Chapter 4

1. Cell division is A.an orderly sequence. B.identical for all cells in an organism. C.regulated by the hypothalamus. D.a random event. 2. The process of creating germ cells occurs during A.mitosis. B.meiosis. C.apoptosis. D.translocation. 3. The planned sequence for cell death is called A.mitosis. B.meiosis. C.translocation. D.apoptosis. 4. The longest phase of the cell cycle is A.mitosis. B.meiosis. C.cytokinesis. D.interphase. 5. Which is not present in DNA? A.Adenine B.Guanine C.Cytosine D.Uracil 6. When the orderly process of cell division is interrupted, the result can lead to cancer. A.True B.False 7. The process for division of cells into two daughter cells is called A.meiosis. B.mitosis. C.translocation. D.interphase. 8. Genetic variation occurs during A.crossing over. B.mitosis. C.interphase. D.cytokinesis. 9. A germ cell is A.diploid. B.haploid. C.aneuploidy. D.mutated. 10. Genetic variation is A.important for species survival. B.the result of unwanted mutations. C.caused by apoptosis. D.caused by human manipulation. PRETEST Answers: 1. A; 2. B; 3. D; 4. D; 5. C; 6. A; 7. B; 8. A; 9. B; 10. A

Chapter 18 sections

1. Common diseases have A.high prevalence. B.high mortality. C.either high prevalence or high mortality. D.both high prevalence and high mortality. 2. Race and ethnicity A.predict an individual's genotype. B.reflect shared ancestry. C.can be defined genetically. D.are well-defined concepts. 3. The amount of variability within a racial or ethnic group may result from A.traditions within the group. B.geography. C.past political factors. D.All of the above 4. Technological advances resulting from the Human Genome Project have advanced the understanding of common diseases. A.True B.False 5. Which of the following is true? A.Strong family history is an important risk factor for CVD. B.Family history is less important in highly heritable diseases. C.Familial risks are determined only by shared genetics. D.Family history is not an independent risk factor for CVD, but indicates other problems like hypertension. Answers: 1. C; 2. B; 3. D; 4. A; 5. A 1. Many genotypes can result in the same phenotype. A.True B.False 2. Heritability A.may vary within different types of a common disease. B.is constant within a particular disease. C.is important in monogenetic forms of disease, but not in polygenetic forms. D. has primarily determined by factors of race and ethnicity. 3. The environment may influence risk and progression of common diseases by A.affecting lifestyle choices. B.influencing epigenetic changes in DNA. C.having direct effects on DNA. D.All of the above 4. Epigenetic modifications A.upregulate gene transcription. B.downregulate gene transcription. C.may either upregulate or downregulate gene transcription. D.do not have a direct effect on genetic regulation. 5. Epigenetic changes can occur outside of the coding sequence of a gene. A.True B.False Answers: 1. A; 2. A; 3. D; 4. C; 5. A 1. Genes that were not previously suspected to be involved in a particular disease are more likely to be discovered by A.candidate gene studies. B.association studies. C.linkage and meta-analysis. D.case-control studies. 2. Candidate genes have been identified in all of the following EXCEPT A.hypertension. B.hyperlipidemia. C.coronary artery disease. D. COPD 3. A monogenetic form of COPD is linked to which gene? A.MMP 12 B.SERPINA1 C.CHRNA 3/5 D.Any of these genes can cause monogenetic COPD. 4. When the same genetic loci are linked to more than one common disease, it may indicate that A.there is an underlying mechanism shared by the diseases. B.different variants of the same gene may be important in different diseases. C.Both A and B are true. D.Neither A nor B are true. Answers: 1. B; 2. C; 3. B; 4. C 1. Genetic testing is most feasible for forms of common diseases. A.monogenetic B.polygenetic 2. Patients are expected to be highly resistant to incorporating genetic risk factors into clinical practice. A.True B.False 3. An example of an application of epigenetics in therapy is A.using TCF7L2 genotype to predict response to sulfonylurea medications. B.adding genes for cholesterol metabolism to CVD risk calculators. C.using DNA methyltransferase inhibitors to treat cancer. D.All of the above Answers: 1. A; 2. B; 3. C

Chapter 2 sections

1. Regarding health promotion and disease prevention practices, the registered nurse should A.consider genetic and genomic influences pertaining to personal and environmental risk factors. B.incorporate knowledge of genetic and/or genomic risk factors into the care plan of the client/patient. C.explain to the client/patient how she or he would handle the situation if she or he were in their shoes. D.All of the above E.A and B, above 2. The registered nurse should facilitate referrals for specialized genetic and genomic services for clients as needed. A.True B.False 3. It is acceptable for a registered nurse to ignore a client's decisions/decision-making process if the client's decisions or process are counter to the nurse's religious and/or cultural beliefs. A.True B.False Answers: 1. E; 2. A; 3. B 1. What types of nurses are the competencies in Section Two most relevant to compared to the kinds of nurses and the competencies in Section One? 2. Nurses who perform PCH-related activities need to be very knowledgeable about the structure and function of relevant local, state, and national public and private health agencies and organizations. A.True B.False 3. Nurses who perform PCH-related activities need to be very knowledgeable about access to accessible, available, high-quality, culturally competent, community-based, family-oriented, affordable, effective, and efficient services and education of clients, families, and communities. A.True B.False Answers: 1. The competencies in Section One are aimed at all registered nurses while the competencies in Section Two are aimed more so at those who participate in PCH-related activities; 2. A; 3. A.

Chapter 15

1. Stress can alter the functioning of the immune system prenatally as well as after birth. A.True B.False 2. Neuropeptides are all of the following EXCEPT A.short chains of amino acids. B.neurotransmitters. C.modulators of synaptic activity. D.proteins with quaternary structures. 3. All of the following can strengthen the immune system EXCEPT A.music. B.laughter. C.pain. D.writing. 4. Genes and the environment are separate entities. A.A. True B.B. False 5. Social genomics will provide insight into how early life conditions relate to health and behavior. A.True B.False Answers: 1. A; 2. D; 3. C; 4. B; 5. A 1. A pathogen is an antigen. A.True B.False 2. Immediately following a break in the skin, phagocytes engulf bacteria within the wound. This is an example of an immune response, which is against a pathogen. A.adaptive; specific B.innate; specific C.innate; nonspecific D.adaptive; nonspecific 3. An synonym for an antigenic determinant is A.immunogen. B.epitope. C.binding site. D.polysaccharide. 4. Antigenic substances can be composed of A.large polysaccharides. B.proteins. C.glycoproteins. D.All of the above 5. The immunogenicity of an antigen depends greatly on A.its biochemical composition. B.being structurally unstable. C.its degree of foreignness. D.having low molecular weights. Answers: 1. A; 2. C; 3. B; 4. D; 5. C. 1. A function of the cell-mediated immune response NOT associated with humoral immunity is A.defense against viral and bacterial infection. B.initiation of rejection of foreign tissues and tumors. C.defense against fungal and bacterial infection. D.antibody production. 2. The primary or central lymphoid organs in humans are the A.bursa of Fabricius and thymus. B.lymph nodes and thymus. C.bone marrow and thymus. D.lymph nodes and spleen. 3. All of the following are a function of T cells EXCEPT A.mediation of delayed-hypersensitivity reactions. B.mediation of cytolytic reactions. C.regulation of the immune response. D.synthesis of antibody. 4. The major clinical manifestation of a B-cell deficiency is A.impaired phagocytosis. B.diminished complement levels. C.increased susceptibility to bacterial infections. D.increased susceptibility to parasitic infections. 5. Most diseases associated with a primary defect are disorders. A.T-cell B.B-cell C.complement D.phagocytic Answers: 1. B; 2. C; 3. D; 4. C; 5. B 1. Which of the following contributes to the genetic diversity of immunoglobulins? A.Heavy and light chains B.Multiple germline genes C.Constant and variable regions D.All of the above 2. The greatest genetic diversity of antibodies is achieved by which mechanism? A.Somatic recombination B.Multiple combinations of heavy and light chains C.Somatic hypermutation D.Junctional diversity 3. Which of the following cells carry activated immunoglobulins? A.T lymphocytes B.B lymphocytes C.Plasma cells D.Dendrite cells 4. Which of the following is a signaling protein? A.Plasma cells B.Immunoglobulin C.T lymphocytes D.Cytokine 5. The chemical composition of an antibody is A.protein. B.lipid. C.carbohydrate. D.glycoprotein. Answers: 1. D; 2. C; 3. C; 4. D; 5. D. 1. Autoimmune diseases have a complex genetic basis. A.True B.False 2. Which of the following describes the essential cause of autoimmunity? A.Too many antigenic determinants B.Lack of antibody formation C.Breakdown in self-tolerance D.Lack of macrophages 3. Which of the following provides the most information for genetic disease research? A.Study of individual candidate gene history B.Study of linkages in multiple families C.Reviewing medical genetic research D.Performing GWA scans for SNPs 4. HIV is a primary immunodeficiency disease. A.True B.False 5. Which of the following are typically autoimmune diseases? 1.1. Lupus 2. 3. Type 1 diabetes 3.Graves' disease 4.Rheumatoid arthritis A.1, 2, 4 B.3, 2, 4 C.1, 3, 4 D.1, 2, 3, 4 Answers: 1. A; 2. C; 3. D; 4. B; 5. D

Chapter 13 sections

1. The family health history has become the most important primary tool in diagnosing and assessing risk of genetic diseases. A.True B.False 2. A woman is considered "advanced maternal age" and her risk of having a child with Down syndrome increases at what age? A.25 B.35 C.45 D.None of the above 3. The Surgeon General chose Thanksgiving Day as National Family History Day for all of the following reasons EXCEPT A.it is a day when families gather together. B.family members can discuss their wills. C.family members can discuss and record health problems. D.families can organize their family history. 4. One of the problems with the family history tool is that A.it can be used and maintained on the Internet. B.genetic specialists feel that it is underused in primary care. C.some family members may be deceased. D.the nurse will have to review the document with the individual or family. 5. A barrier to obtaining a family health history is A.a husband can report his wife's medical history. B.a mother can recall her labor and delivery experience. C.a family member may not be forthcoming with his health history. D.a family member may not be able to recall his immunizations. Answers: 1. A; 2. B; 3. B; 4. B; 5. C 1. In order to protect confidentiality, the birth year rather than the entire birth date of an individual is used in a pedigree. A.True B.False 2. A horizontal line in a pedigree indicates A.a relationship. B.a generation. C.consanguinity. D.adoption. 3. The paternal section of a pedigree should go on the right and the maternal section should go on the left. A.True B.False 4. An illustration used to predict the likelihood of inheriting a particular genetic trait or disease is called a A.pedigree. B.karyotype. C.Punnett square. D.dihybrid cross. 5. The horizontal line in a pedigree connects vertically to a second horizontal line that displays the . A.marriage. B.grandparents. C.sibship. D.adoption. Answers: 1. A; 2. A; 3. B; 4. C; 5. C •1. Obtaining a comprehensive health history is a standard competency required of all nurses. A.True B.False •2. In working with clients who are seeking genetic information and/or counseling, nurses need the following skills EXCEPT 1.communication. 2.education. 3.decision making. 4.diagnosing. •3. The National Coalition for Health Professional Education in Genetics and the American Nurses Association lists the following expected competencies for nurses EXCEPT 1.obtaining a family history. 2.constructing a three-generation pedigree. 3.ordering specific genetic tests. 4.facilitating referrals for specialized genetic services. •4. It is the nurse's responsibility to inform family members of genetic risks. A.True B.False •5. A Genetics Clinical Nurse (GCN) is a registered nurse with a baccalaureate degree who has specialized education and training in genetics. A.True B.False Answers: 1. A; 2. D; 3. C; 4. F; 5. A

Chapter 4 sections

1. The process of RNA formation from DNA is called 1. transcription. 2. translocation. 3. translation. 4. protein synthesis 2. 2. The genetic code for the protein glycine is 1. GGA. 2. CCC. 3. AGU. 4. UCG. 3. 3. The number of amino acids is 1. 3. 2. 4. 3. 20. 4. 64. 4. 4. The completion of protein synthesis is signaled by a 1. break in a DNA strand. 2. lack of base pairs matching up. 3. mutation. 4. stop codon. Answers:1. A; 2. A; 3. C; 4. D Section Two 1. A change in genetic code that is a common spelling error is known as a A.mutation. B.translocation. C.polymorphism. D.structural anomaly. 2. The two copies of a gene found within a cell are known as A.mutations. B.polymorphisms. C.alleles. D.translocations. 3. Genes are comprised of A.proteins. B.chromosomes. C.mutations. D.mRNA. 4. The human genome is comprised of A.approximately 24,000 genes. B.over 100,000 genes. C.a great many mutations and errors. D.material that has very little in common with that of other living organisms. Answers: 1. B; 2. C; 3. A; 4. A 1. Which of the following is NOT considered a part of mitosis? A.Interphase B.Metaphase C.Telophase D.Anaphase 2. Which statement is true about G1? A.It lasts for the same length of time for all cells. B.It is the phase of the cell cycle where cellular metabolic activity occurs. C.It is when the chromosomes are most tightly coiled. D.It is when the centrioles divide. 3. The daughter cells resulting from mitosis are A.diploid. B.aneuploid. C.haploid. D.germ cells. 4. Cytoplasmic division into two cells occurs during A.interphase. B.cytokinesis. C.metaphase. D.telophase. 5. Chromosomal separation occurs during A.prophase. B.metaphase. C.anaphase. D.telophase. Answers: 1. A; 2. B; 3. A; 4. B; 5. C 1. Which cell division is considered the reduction division? A.Meiosis I B.Meiosis II C.Mitosis D.Interphase 2. The result of chromosomal nondisjunction can lead to A.monosomy. B.aneuploidy. C.triploidy. D.All of the above 3. Meiosis is the process by which A.cancer cells are allowed to duplicate unchecked. B.somatic cells divide. C.germ cells are formed. D.fertilization occurs. 4. At the end of the first meiotic division, each daughter cell has A.23 chromosomes. B.46 chromosomes. C.both an X and a Y chromosome. D.an unknown number of chromosomes. 5. The process by which genetic variation is created is called A.nondisjunction. B.cell division. C.asexual reproduction. D.crossing over. Answers: 1. A; 2. D; 3. C; 4. A; 5. D

Post test for chapter 4

1. The process of gametogenesis A.results in a diploid number of chromosomes in each cell. B.results in four spermatids from a single parent cell. C.results in sperm that all have a single Y chromosome. D.occurs only in males. 2. Down syndrome [trisomy 21] is most likely caused by A.chromosomal nondisjunction. B.environmental insults during gametogenesis. C.a family history of Down syndrome. D.maternal infection. 3. The longest part of the cell cycle is A.anaphase. B.telophase. C.metaphase. D.interphase. 4. Germ cells are formed during A.interphase. B.meiosis. C.mitosis. D.sexual arousal. 5. Unregulated cell division can result in A.obesity. B.cancer. C.Down syndrome. D.apoptosis. POSTTEST Answers: 1. B; 2. A; 3 .D; 4 .B; 5. B

Chapter 16 sections

1. Which of the following best describes the cause(s) of cancer? A.A critical gene mutation B.The accumulation of DNA mutations as well as changes in epigenetic processes C.An inherited genetic condition D.A complex, multistep process 2. Which of the following is NOT a hallmark capability of cancer according to Hanahan and Weinstein (2011)? A.Ability to sustain chronic proliferation B.Ability to evade growth suppressors C.Ability to generate germ line mutations D.Ability to resist cell death E.Ability to activate invasion and metastasis 3. The Two-Hit Hypothesis of cancer development that was described in the 1970s by Dr. Alfred Knudson is no longer relevant. A.True B.False 4. Which of the following best describes a proto oncogene? A.A subset of tumor suppressor genes B.A gene that, when mutated, can become an oncogene C.A gene with a point mutation that is common in many cancers D. A gene that makes proteins that inhibit normal cell division E.A major cause of chronic myelogenous leukemia 5. The majority of cancers occur randomly and in somatic cells. A.True B.False 6. Which of the following best describes why viruses like Epstein Barr and hepatitis B can contribute to cancer development? A.A. Infection with these viruses leads to clonal expansion of infected cells with loss of normal function. B.B. Infection with these viruses can activate invasion and metastasis. C.C. Viral DNA are inserted into cellular DNA during replication. 7. Which of the following has NOT been described as an effect of epigenetics? A.A. Epigenetics has the ability to chemically program cellular behavior. B.B. Epigenetic changes in tumor cells are potentially reversible. C.C. Epigenetic functions are heritable. D.D. Epigenetics can turn a particular gene on as well as off. E.E. Cancer drugs do not influence epigenetic function. Answers: 1. B; 2. C; 3. B; 4. B; 5. A; 6. C; 7. E 1. The development of drugs that target angiogenesis are a promising new model for treating cancer. A.True B.False 2. How will an improved understanding of the molecular genetics of a particular type of cancer contribute to personalized medicine? A.Treatment can be targeted to the particular gene, gene product, or molecular pathway that triggers a cancer. B.The genetic signature of a cancer can be used to predict prognosis. C.Biomarkers can monitor the effect(s) of cancer treatment. D.All of the above 3. Your patient has elected to pursue online direct-to-consumer genetic testing for breast cancer. Which of the following would you want to make her aware of? A.The reliability, validity, and interpretation of online gene test results have been questioned. B.Online gene test results are highly reliable and valid. 4. The number of molecular tests and biomarkers in clinical use is small and most commonly used for cancer. A.True B.False Answers: 1. A; 2. D; 3. A; 4. A 1. Mutations in which of the following autosomal dominant genes are commonly associated with breast cancer in men? A.BRCA1 B.BRCA2 2. The presence of more than 100 adenomatous polyps in the colon is pathoneumonic for familial adenomatous polyposis (FAP). A.True B.False 3. MLH1, MSH2, MSH6, and PMS2 are known as mismatch repair genes. This is a subclassification of which of the following? A.Tumor suppressor genes B.Oncogenes C.None of the above 4. Risk assessment and long-term surveillance and screening guidelines have been published for most cancers. A.True B.False Answers: 1. B; 2. A; 3. A; 4. B 1. Nurses must understand cancer genetics because A.they make up the largest number of direct care providers. B.there are insufficient genetic experts to translate cancer genetic information to patients and the public. C.they are the case finders for cancer predisposition. D.All of the above 2.A pedigree is a standardized pictorial representation of family data collected during a health history. A.True B.False 3. Red flags that suggest inherited predisposition for cancer include all of the following EXCEPT A.multifocal or bilateral disease. B.early age of cancer onset, typically before age 50 years. C.multiple affected family members. D.evidence for rapid metastasis among multiple individuals with cancer. E.occurrence of similar cancers across multiple generations. 4. Certification in oncology nursing as well as genetic nursing is possible. A.True B.False 5. Cancer treatment is evolving and new drugs are being developed to target very specific gene functions and/or cancer development pathways. Which of the following skills or competencies is most important for a nurse to possess? A.History taking and physical assessment skills B.Initiation and participation in system processes that enable continuous monitoring for and recording of adverse events C.Collaboration with other providers to develop patient care guidelines for the management and prevention of unanticipated events D.Patient education about the drug effects, interactions, and the need to report unexpected drug effects E.All of the above Answers: 1. D; 2. A; 3. D; 4. A; 5. E

Chapter 10 sections

1. Which of the following is an example of imprinting? A.Duchenne muscular dystrophy B.Factor V Leiden C.Prader-Willi syndrome D.Tay-Sachs 2. Autosomal dominant is an example of which inheritance pattern? A.Anticipation B.De novo C.Imprinting D.Mendelian 3. Which of the following is true about recessive characteristics? A.One gene copy is necessary for the characteristic to occur. B.Two gene copies are necessary for the characteristic to occur. C.The characteristic will never cause a problem. D.The characteristic exists only in a carrier state. 4. Screening refers to A.genetic testing for a disease already known to be present. B.testing done to determine if there is a potential increased chance for a disease. C.a diagnostic tool that confirms a disease is present. D.a nursing assessment. 5. Preconception health counseling is A.health education done before, during, and after a pregnancy. B.health education done before and/or after a pregnancy. C.health education done during the pregnancy. D.health education done only for women. Answers: 1. C; 2. D; 3. A; 4. B; 5. B 1. Population-based screening is done on individuals who A.have a history of the disease for which the screening is aimed. B.have no history of the disease for which the screening is aimed. C.have symptoms of the disease for which the screening is aimed. D.have both a history and symptoms of the disease for which the screening is aimed. 2. refers to a test's ability to accurately predict those who are not at risk for a specific condition and who therefore do not need further diagnostic testing. A.Accuracy B.Reliability C.Sensitivity D.Specificity 3. refers to the test's ability to identify those who are at risk for the condition, and therefore need more in-depth diagnostic testing. A.Accuracy B.Reliability C.Sensitivity D.Specificity 4. Triple screen includes all of the following EXCEPT A.hCG. B.INH-A. C.MSAFP. D.uE3. 5. A carrier is a person who has one copy of the gene and A.exhibits no symptoms for the gene of interest. B.exhibits symptoms for the gene of interest but no disease. C.exhibits symptoms of the disease associated with the gene of interest. D.knows at some point the gene will cause illness in them. Answers: 1. B; 2. D; 3. C; 4. B; 5. B 1. Diagnostic tests are used to A.detect problems in individuals believed to have a condition. B.detect problems only in individuals who show no symptoms. C.detect only problems prenatally. D.detect problems only if screening has been done. 2. Pre-implantation genetic diagnosis involves A.an embryo already in the womb. B.an embryo before it has been placed in the womb. C.informed consent always. D.cost considerations. 3. Choronic villus sampling can be done A.earlier than amniocentesis. B.later than amniocentesis. C.any time during the pregnancy. D.after birth. 4. Ultrasound testing is used to detect A.chromosomal analysis. B.karyotype changes. C.structural anomalies. D.changes in DNA. 5. Fetal gender can be determined by A.amniocentesis. B.choronic villus sampling. C.karyotyping. D.changes in DNA. Answers: 1. A; 2. B; 3. A; 4. C; 5. C 1. Genetic testing can determine paternity, which in turn can lead to A.unintended consequences of revealing a father other than the mother's partner. B.ethical dilemmas about how this information should be released. C.misinterpretation of the results. D.All of the above 2. Issues of getting pregnant to produce a child for tissue transplants is A.a personal decision. B.a potential legal liability. C.always an ethical dilemma. D.should never be done. 3. Understanding the mother and/or father's culture is important for genetic testing. A.True B.False 4. Prenatal testing can determine the severity of the fetal condition without question. A.True B.False 5. The nurse's role in prenatal testing unless certified as a Genetic Nurse or Counselor is to A.interpret the results. B.analyze the genetic risk. C.emotionally support the mother and/or father. D.ensure that no ethical dilemmas occur. Answers: 1. D; 2. B; 3. A; 4. B; 5. C 1. Preconceptual education is important because A.many pregnancies are unplanned; therefore, risks are undetermined. B.a woman needs to know about genetic risks prior to pregnancy. C.it promotes a healthy lifestyle in light of genetic risks. D.All of the above 2. Prenatal testing is always covered by health insurance. A.True B.False 3. The role of the nurse in prenatal testing and screening unless certified or educated as a genetic nurse specialist/counselor is as a(n) A.advocate. B.diagnostician. C.genetic counselor. D.practitioner. 4. Internet resources with health information are generally reliable. A.True B.False 5. Ethical decision making is part of the management of a woman undergoing prenatal testing and screening. A.True B.False Answers: 1. D; 2. B; 3. A; 4. B; 5. A

Genomic Instability

A characteristic of most cancers. A high rate of abnormal chromosome structures and numbers Microsatellite Instability Increased frequency of base pair mutations.

Tumor Suppressor Genes

A family of normal genes that encode proteins with a number of different functions that inhibit cell growth and survival. Mutations cause these genes malfunction allowing tumor cells to grow and reproduce without being stopped.

Question 4

A red flag in a family health history would include all of the following EXCEPT: A. several relatives who are affected with the same disease B. early, sudden death of an individual C. a disorder that occurs later in life D. a child whose parents are closely related Answer is C

Hallmarks of Cancer Development

Ability to sustain chronic proliferation. Ability to evade growth suppressors. Ability to resist cell death. Ability to support replication immortality. Ability to induce angiogenesis. Ability to activate invasion and metastasis. Ability to reprogram energy metabolism. Ability to evade destruction by the immune system.

Trisomy

Addition of one chromosome 2n+1 Example: Trisomy 21 (Down's Syndrome)

Tetrasomy

Addition of two chromosomes 2n+2 Example: Pallister-Killian Syndrome

Critical thinking

Adrian is a 26-year-old Caucasian woman who is admitted to your unit for surgical care following a mastectomy for Stage II breast cancer. She tells you she is very scared because her paternal grandmother, paternal aunt, and her father have all had breast cancer. 1.What red flags tell you that there is a need to collect a comprehensive three-generation family history? 2.What can you tell her about the relationship between breast cancer and genetics that might be relevant in her case? 3.Given the brief information in this case, what gene mutation might be common in her family? Why do you say this? 4.Is a genetic counseling referral relevant in this case? Why? CRITICAL THINKING CHECKPOINT ANSWERS 1.Adrian developed breast cancer at a very young age. Early age of cancer onset is a red flag suggesting genetic predisposition to breast cancer. In addition, breast cancer is not common in men. When discovered, it is more likely to be associated with a heritable gene mutation. This history suggests there are at least three individuals in the paternal line that have received a breast cancer diagnosis. Multiple primary breast cancers in a maternal or paternal line are a red flag suggesting the need to develop a comprehensive pedigree. It will be also important to assess whether the cancer cases in this three-generation family history reveal bilateral disease. Bilateral disease is a common cancer risk red flag. 2.About 10%-15% of all breast cancers can be associated with a gene mutation. Cancer is the result of a complex interplay between inherited genetic predisposition and environmental and lifestyle exposures. In addition, scientists recently have found that breast tumors that showed mutations in BRCA2 conferred a survival advantage over disease due to other types of breast cancer associated gene mutations. 3.Breast cancer is not common in men. However, in such instances, a nurse should be alert to the possibility of a BRCA2 mutation. The BRCA2 gene is an autosomal dominant mutation that can confer an increased risk for biologic descendants. Each child would have a 50/50 chance of inheriting this gene mutation. 4.There are many benefits to referral for genetic counseling, as discussed in the following: ◾Adrian would have the opportunity for a professional consultation with a geneticist and/or a genetic counselor who could help her to decide on the value of personal genetic testing, as well as discuss the implications of such testing for treatment decisions and possible privacy or insurance discrimination. ◾Other at-risk family members can be identified and genetic counselors could help Adrian strategize ways to share this information with them. These individuals could be offered cancer surveillance options that might include earlier age for specific screening tests and more frequent screening intervals. ◾Adrian would also have the opportunity to discuss the relevance of other breast cancer risk-reduction measures (e.g., prophylactic removal of the other breast or ovaries after child bearing is complete). ◾Gene testing and counseling can provide guidance with new gene-specific treatment options and risk reduction measures as they emerge.

Critical thinking

After appropriate informed consent, Susan is screened for cystic fibrosis early in her pregnancy, and the test results indicate that she is a carrier for a common cystic fibrosis mutation. You share the results with her, and suggest that the next step would be to have her husband tested. She tells you that this pregnancy is a result of an extramarital affair. Her husband believes that he is the father, and the man with whom the affair occurred is not aware that he fathered Susan's baby. 1. What are your responsibilities to Susan? 2. Should you inform her husband that he is not the baby's father? 3. Do you have a responsibility to tell the baby's father of the situation so that he can be tested? If he agrees to be tested, whose insurance is responsible for paying for the test? 4. Do you have any obligation to the fetus? CRITICAL THINKING CHECKPOINT ANSWERS 1.Susan is your patient, so your responsibilities are to her. 2.It is up to Susan to share the information about the paternity with her husband. You also should inform Susan that she can elect amniocentesis to determine the genetic status of the baby. 3.The question of insurance coverage for the genetic testing for the nonmarital partner is dependent on his particular coverage and is not easily determined. 4.The question of legal obligation to the fetus may depend on state law determining personhood. Also remember the story of Henrietta Lacks

Question 10

An example of an application of epigenetics in therapy is: A. Using TCF7L2 genotype to predict response to sulfonylurea medications. B. Adding genes for cholesterol metabolism to CVD risk calculators. C. Using DNA methyltransferase inhibitors to treat cancer. D. All of the above. Answer is C

The Elderly and Natural Aneuploidy

Aneuploidy may reflect age-associated decay in other cell mechanisms. Aneuplodic Theory of Cancer Do changes in protein regulation cause a change in cellular mechanisms and ultimately affect tumor suppressive elements?

Overview of aneuploidy

Aneuploidy: the process through which there has been a change in the number of individual chromosomes or chromosomal segments. Addition of chromosomes is referred to as trisomy or tetrasomy. Subtraction of chromosomes is referred to as monosomy or nullisomy. Aneuploidy can effect autosomes or sex chromosomes. Incorrect number of chromosomes and occurs during meiosis Trisomy - addition of a single chromosome making three Tetrasomy - addition of two homologous chromosomes making four Nullisomy - loss of two chromosomes Monosomy - loss of a single chromosome

The nurse's role

Help clarify confusion after the physician has left the patient. Give the woman clear expectations of each test, what will occur and what recovery from the test should be like. Give clear examples of what complications from the testing present like.

Cancer Progression

Metastasis Suppressor Genes (MSG): normal function is to suppress processes or pathways to promote metastasis. Example: Upregulation of MTDH (metastasis gene metadherin) promotes chemo-resistance and metastasis in 30-40% of breast CA.

Epigenome: DNA Methylation

Associated with a large number of human malignancies due to either hyper- or hypomethylation. In cancer cells gene promoters are hypermethylated and their corresponding genes are transcriptionally downregulated resulting in gene silencing. This results in the loss of a tumor suppressor allele. Global genomic hypomethylation leads to genomic instability, oncogene activation and tumor progression.

Pulmonary Disease

Asthma: More than one hundred genes have been examined as candidate genes. PDE4D (phosphodiesterase 4D) is involved in airway smooth muscle response and contractility. Aminophylline used to treat bronchoconstriction is a PDE4D inhibitor. COPD: Alpha1-anitrypsin deficiency is the only known monogenetic cause. It is autosomal recessive. It is encoded by SERPINA1.

Cancer Genes

At this time 465 cancer genes have been catalogued. (starting on page 221 do not need to know it) 90% have been shown to exhibit somatic mutations, 20% show germ line mutations and 10% show both. (This equals 120%...... Don't ask me.) Germline Inheritance in known in BRCA1 and BRCA2 (breast and ovarian CA). Mutations can be caused by Epstein Barr, HPV, HBV and human herpes virus 8.

Ethical Principles

Autonomy Beneficence Capacity Competency Distributive Justice Fidelity Informed Consent Justice Non-maleficence Self-determination Surrogate

Critical thinking

Baby Girl M. is the 34-week gestation infant admitted to the NICU for low blood sugar and breathing difficulties. Upon admission of the infant, you are told that the mother refuses newborn screening along with vitamin K and ophthalmologic prophylaxis. 1. What is your responsibility as this patient's nurse as it pertains to the newborn screen? 2. Under what circumstances is it appropriate for the mother to decline the newborn screen? 3. How do you communicate your nursing interventions to others when a mother declines the newborn screen? 4. If the mother in this scenario changes her mind, when should the newborn screen be obtained and what is the method for obtaining the newborn screen? CRITICAL THINKING CHECKPOINT ANSWERS 1.The United States recognizes parents as the proper surrogates for their children. This viewpoint comes from the presumption that, above all, parents want what is best for their child and understand better than anyone the traditions and conditions of the world in which the child will be raised. Thus, it is not appropriate to simply document that the mother has declined the newborn screen. It is the responsibility of the health care provider to determine the reasons why the mother declined, and to offer education when applicable. Re-education gives the health care provider the opportunity to provide factual information regarding the benefits and limitations of early detection through newborn screening. It also allows the mother a chance to reconsider her decision. Moreover, it is not appropriate to obtain the newborn screen when the mother declines. The traditions and laws of most countries, including the United States, recognize parents as the surrogate decision makers for their own children. Given this widely recognized parental authority, it is rare that anyone is given the authority to bypass the parents' decision or to overrule their decisions. 2.In some circumstances it may be appropriate for the mother to decline newborn screening for her infant based on religious beliefs. Regardless, every attempt should be made to adequately educate the parent about the benefits and limitations of the newborn screen. 3.When the parent declines a newborn screen, nurses and other health care providers should document the following in the infant's medical record: a.Discussions between the parent and health care provider, as the discussions pertain to the newborn screen. b.Efforts made to provide factual information to the parent, including the use of information sheets or pamphlets about the newborn screen. Furthermore, some states have special forms that need to be completed when a parent declines the newborn screen. 4.If the parent consents to the newborn screen, the first blood sample is obtained from the infant's heel between 24 and 48 hours of age and the special filter paper is impregnated with the infant's blood. The filter paper is then sent to the newborn screen laboratory for analysis. Additional newborn screens may be required if the infant is ill at the time when the newborn screen is obtained.

Interferons -

Body's natural defense response to foreign components such as viruses and bacteria Belong to a class of glycoproteins known as cytokines Activation of immune cells (NK cells and macrophages) Recognition of infection or tumors cells by means of antigen presentation to T lymphocytes Enhancing the expression of specific genes Inhibiting cell proliferation Augmenting immune effector cells

Critical thinking

CL, a 40-year-old Caucasian female, has been experiencing episodes of fatigue and excessive sleepiness at the end of the day, especially after dinner. She states, "I can barely stay awake to get the kids to bed." She loves her job as a programmer because she can sometimes telecommute from home if she needs to stay home with a sick child. She is 5'4" tall, weighs 120 pounds, and routinely jogs three miles every day in the morning before breakfast. She adds to this information that she has also been extremely hungry and thirsty after her run, which is unusual because "running usually curbs my appetite." When questioned about her health recently, she remembers that she did have a 24-hour bug about a month ago that "knocked me off my feet. I had a high fever and everything!" She adds that it was at a particularly stressful time because she had a deadline for a work project. She then remembers that this fatigue in the evening started after that episode. She has a family history of maternal late-onset diabetes, but that "was because my mother was fat and I vowed I'd never let myself get that bad." 1.What are the significant points in CL's history that could indicate a problem? 2.What lab tests would you want to run immediately? 3.What other questions could provide important information? 4.What would you advise her to do for follow-up? CRITICAL THINKING CHECKPOINT ANSWERS 1.The significant points regarding CL's history is the fact her fatigue began after the viral syndrome with a high fever; she is a runner who now gets hungry and thirsty after a run; she is especially fatigued at night after dinner; she has a family history of non-insulin-dependent diabetes mellitus. 2.Lab tests that could be of value at this moment would be a blood sugar, hemoglobin A1C, and urine dipstick because generally all three tests could be done in an office setting. 3.Additional questions to ask would include questions about nocturia, thirst, and weight loss. 4.Suggestions for follow-up would include referral to a diabetes counselor for diet changes and to monitor her blood glucose before and after every meal. If her blood sugars are high after meals, she may need a medication by mouth initially and possibly later insulin. Explain to her that this seems to be a case of autoimmune diabetes. The fact that she had the virus with a high fever and was under stress simultaneously indicates that her body may be attacking itself secondary to the release of stimulators during the fever. Moreover, since it is an autoimmune disease, she could be at risk for other tissue attacks, i.e., thyroid problems. It is important for her to continue her exercise regimen because this improves her circulation and relieves stress.

Cancer stem theory

Cancer stem cells (CSCs) are also known as tumor- initiating cells. These cells have a role in initial cancer development, relapse, metastasis and treatment resistance. They are only beginning to be understood. If scientists are able to identify and target CSCs then they could save the normal stem cells from destruction. Where did the cancer stem cells come from? No answer to it

Three categories: caretaker, gatekeeper and landscaper genes.

Caretaker Genes Function to stabilize cell processes by directly participating in DNA repair. When these genes are inactivated the overall rate of mutations increases. Known genes: MLH1, MSH2, MSH6 and PMS2. Gatekeeper Genes Control cell growth by inhibiting proliferation through apoptosis (cell death) and/or promoting terminal differentiation. The genes must become inactivated before a cell can become cancerous and they are tissue specific. Example: mutations in the APC gatekeeper gene have been found in the majority of colon tumors. Landscaper Genes They adapt the microenvironment in which cell exist. Example: Inactivation of the SMAD4 gene alters the colon mucosa, setting up and abnormal microenvironment that promotes the growth of epithelial neoplasia.

Cell Cycle

Cell cycle: composed of nondivision and division Three parts: Interphase, Mitosis and Cytokenesis

Interleukins/Cytokines

Cytokines - polypeptide products of activated cells that control a variety of cellular responses to regulate immune response Made by leukocytes - refer to as interleukins (group of cytokines) In innate immunity - cytokines mediate early inflammatory reactions to microbial organisms and stimulate adaptive immune responses In adaptive immunity - stimulate proliferation and differentiation of antigen stimulated lymphocytes and activate specialized effector cells such as macrophages

Privacy, Confidentiality and Informed Consent

If we test a family member for a specific genetic mutation and it comes back positive, do we inform the patient's parents who must also carry the gene? Are global routine informed consent forms appropriate for genetic testing? If a test requires members of the same family to be tested, whose insurance pays for it and who owns the results?

Assessment

Demonstrate an understanding of the relationship of genetics to healthcare Demonstrate ability to elicit a multi-generation family history Construct a pedigree Collect personal histories Conduct a comprehensive assessment Critically analyze history Assess client's knowledge related to genetics Develop a plan of care incorporating genetic information

Ethical theories

Deontology - people should adhere to obligations and duties when analyzing ethical dilemma Utilitarianism - consequence of the actions - action you take should be the one for the greatest good Rights - society set forth and things are correct and ethical as long as the majority endorses it Casuist - you are looking at other dilemmas that were similar in the past and looked at their outcome and made a decision based on that Virtue - judging people on their typical behavior

Two hit theory

Dr. Alfred Knudson: retinoblastoma Two hits are necessary for cancer to present: on in the germ line that is inherited in every cell in the body and a second as a mutation later that would account for the loss of the nonmutated allele. If the cancer was not inherited (not in the germ line) than TWO random mutations were needed for the cancer to present. For example, the first hit is I inherited the gene for lung cancer in the germ line and the second hit is smoking

Referrals

Facilitate referrals for specialized genetic services

Routine Prenatal Screening

Family history and pedigree Population Based Screening Routine screening for individuals who may have or develop a disease To Identify those at high risk Outreach to those who have not sought medical attention for a disease Follow up and intervention to benefit the screened persons. Example: newborn screening and prenatal maternal serum alpha-fetoprotein (MSAFP)

Critical thinking

Figure 13-8 illustrates a family pedigree with a strong history of sickle cell disease. Emma is the proband; her parents are bringing her to the genetics clinic to determine if she has sickle cell disease. She is 3 weeks old but appears healthy and is thriving. The nurse begins by taking a family history and determining Emma's risk of having the disease. Family pedigree of sickle cell disease •. What mode of inheritance is sickle cell disease? •2. What are the characteristics of this mode of transmission? •3. It is determined that Emma does not have sickle cell disease. What are the chances that she is a carrier of the sickle cell trait? •4. Who else in this pedigree are probable carriers of the trait? Why? •5. Are there any other patterns of inheritance in this pedigree? What would be needed to determine if anyone was at risk for other diseases? •6. What is the role of the nurse once the pedigree has been created? CRITICAL THINKING CHECKPOINT ANSWERS 1.Sickle cell disease is an autosomal recessive trait. 2.Characteristics of an autosomal recessive trait are (a) the trait is expressed when two copies (homozygosity) of an autosomal allele are present; (b) individuals who have two different (heterozygous) alleles are carriers of the trait; (c) children born to parents who are carriers of the gene (heterozygous) have a 25% chance of having the disease, a 25% chance of not having the disease and not being a carrier, and a 50% chance of being a carrier; (d) males and females can be affected and can transmit the disease; and (e) the trait can skip generations. 3.Emma's mother has the disease and her father is probably a carrier because his mother has the disease also. Emma's risk of having the disease or of being a carrier can be determined using a Punnett square: Mother (ss) Father (Ss) s s S Ss Ss s ss ss 4. Emma could be an Ss = carrier and therefore have a 50% chance of being a carrier for the sickle cell gene. Or, Emma could be ss (affected) and therefore still have a 50% chance of having the disease—which we have already determined she does not. 5.Other possible patterns of inheritance include diabetes and cancer. To determine risk of other diseases we would need more information. More health and lifestyle information would be needed from all generations of this family before we could determine a true pattern of inheritance. 6.Once the nurse has collected as much individual and family health history as possible and once she identifies a pattern of inheritance or a mode of transmission, she will need to make the proper referrals. In this case, the mother and father may need preconception counseling should they decide to have more children. Otherwise, the nurse should refer the couple and other interested family members for genetic counseling.

Implications

Genetic testing is only available for monogenetic forms of diseases. We are working on genotyping to predict responsiveness to medications. This currently exists for sulfonylureas for NIDDM. Better understanding of genetic linkage will ultimately help in prevention of disease.

Cancer Exemplar

Hereditary Breast and Ovarian Cancer Syndrome (HBOC) Mutations in BRCA1 and BRCA2 Genetic testing exists Women may choose to have preventative mastectomies and salpingo-oophorectomies. In high risk women use of tamoxifen has been shown to reduce the risk of invasive breast CA and oral contraceptives have been shown to reduce the risk of ovarian CA. We have identified the mutation, have the genetic testing and have preventative options. Goal is to do this with every single form of cancer.

Critical thinking

How might knowledge about genetic linkages to a common disease change nursing interventions for patients with that disease? Knowledge about genetic linkages could illuminate understanding of pathophysiology, leading to design of more effective nursing interventions. In addition, it could inform nursing assessment and targeted screening, and influence patient teaching about risk factors and underlying cause of the common disease as well as influence monitoring for complications and side effects of therapie

Cardiovascular diease

Hyperlipidemia: four genes have been studied because of their identified roles in regulating cholesterol levels. (PPP1R3B, SORT1, TTC39B, GALNT2). More than 100 genetic loci have been linked to hyperlipidemia. Hypertension: fourteen genetic loci are associated with hypertension. These are only associated with familial hypertension, not essential hypertension. Essential hypertension appears to be polygenetic.

Identification

Identify clients who may benefit from specific genetic information or services Identify credible genetic information or services to give to clients Identify ethical/cultural issues related to genetics Define issues that undermine the rights of clients related to genetic decision making

Wilson & Jungner (1968)

If we do large population based screening, the following criteria need to be filled: The condition being screened for should be an important health problem The natural history of the condition should be well understood There should be a detectable early stage Treatment at an early stage should be of more benefit than at a later stage A suitable test should be devised for the early stage The test should be acceptable Intervals for repeating the test should be determined Adequate health service provision should be made for the extra clinical workload resulting from screening The risks, both physical and psychological, should be less than the benefits The costs should be balanced against the benefits

Genetic Testing in Newborns

In 2008, landmark legislation was passed that requires all states and the District of Columbia to screen every newborn for 30 serious genetic or functional disorders. Does this violate parents' or newborn's rights to autonomy? We are violating their rights because their parent do not consent to it and the child does not consent to it either. What do you think of this practice?

Causes

In general the causes of aneuploidy are not well understood. Carcinogens and toxins are believed to be associated with this. Nondisjunction: chromosomal abnormality that occurs during cell division. The cells do not separate during meiosis I.

Bloodwork

Includes prenatal maternal serum screening Example: This may pick up on neural tube defects (spina bifida and hydrocephalus) Triple screen: MSAFP, hCG, maternal serum unconjugated estriol (uE3) Quad screen: Also includes inhibin-A (INH-A)

Members of the Family

Infants/ Children: modified to the age of the child Document the mother's and father' sages at time of pregnancy Mother's health during pregnancy Prenatal care OTC meds, hormones and vitamins should be documented. Exposure to teratogens The physical labor and birth Feeding/ /eating habits Developmental milestones Physical development For death of an infant/ child: document when and why Please make special note of any adopted children Adolescents School performance and grades Learning disabilities Substance abuse Steroids Friends and social life School activities Sexual attitudes and behaviors Pregnancy Estimated date of delivery Details about current and previous pregnancies Attitudes about the pregnancy Physical symptoms Relationship status Exposure to teratogens Complete gynecological history Adult Present illness Past medical history Social/ Psychological history Reproductive History Surgical history All medications Recent screening tests Sexual History Family History The Surgeon General has declared Thanksgiving Day as National Family History Day. Relatives First degree: siblings, children and parents Second degree: nieces, nephews, aunts, uncles and grandparents Third degree: first cousins and great-grandparents

Immmunogenetics

International HapMap Project: A multi-nation partnership of scientists looking to find genes associated with human disease and response to pharmaceuticals. They have found that all multicellular organisms have innate immune systems. They speculate that the adaptive immune system is a more recent evolutionary development and is only found in vertebrates. They have found that the humoral immune system is capable of generating at least 10 billion structurally distinct antibodies. The human genome only 20-25,000 genes so it is evident at this times that a separate gene cannot be responsible for coding each antibody but for many.

Question 6

Justice as it relates to the newborn screen means: A. screening of infants is based on socioeconomic groups. B. screening of infants must be undertaken with fairness and equity. C. screening of infants is the result of undue influence or coercion. D. disproportionate screening based on maternal age. Answer is B

Barriers

Lack of knowledge Desire to keep health history private Providers have limited time History may not be well maintained or updated Providers may have limited knowledge of genetics

The Pedigree

Made up of lines that connect shapes The patient is the proband Circles are female and Squares are male Diamonds represent individuals of unspecified sex (can be used for transgender) The symbol is shaded is the individual is affected by a trait Maternal side is on the right and paternal on the left Roman numerals indicate generations

Mitosis

Mitosis: the stage of the cell cycle when a parent cell divides and gives rise to two daughter cells - think somatic or body cells like the epithelial lining of our esophagus or skin Prophase: Chromosomes shorten and thicken Metaphase: Chromosomes line up at the equator of the cell along a fully formed spindle Anaphase: Centromeres divide and the attachments between the sister chromatids dissolve. Telophase: Chromosome migrate to the opposite poles of the cell and uncoil, a new nuclear envelope develops. Cytokinesis: Once mitosis occurs, the cleavage furrow forms and deepens and the cytoplasm divides. Now 2 separate identical cells enter into interphase. Cell Cleavages

DNA, RNA & Protein Synthesis

Molecular genetics is centered on who DNA provides the codes for proteins DNA RNA Proteins DNA - double Helix Bases are adenine (A), cytosine©, guanine (G) and thymine (T) A - T G - C RNA - single strand Uracil (U), cytosine, guanine and adenine A - U G - C 20 amino acids - UAA and UAG are termination sequence (ending sequence or stop codons) It is a 2 step process Transcription: how DNA makes RNA Translation: the actual formation of proteins

Random and Nonrandom

Most forms of aneuploidy are considered to be random variation. An example of nonrandom aneuploidy would be the genetic theory of cancer, through the exposure to toxins. Random would be trisomy 21

Critical thinking

Mrs. John Smith delivered a baby with obvious signs and symptoms of Down syndrome. The baby died several minutes after birth. The causes of death listed in the death certificate were congenital heart disease and Down syndrome. Neither an autopsy nor a chromosome study was performed. Mrs. Smith and her husband, both 25-years-old, live in a rural setting. Pregnancy, labor, and the delivery at home (planned) were normal. No prenatal screening or testing procedures were done. Mrs. Smith had two previous miscarriages at 9 or 10 weeks' gestation. The abbreviated family medical history, obtained by their primary care provider, revealed that Mr. Smith was adopted, and he knew very little about his biological parents or his family medical history. Mrs. Smith is an only child. Her mother had a few miscarriages before and after she was born. Almost all of Mrs. Smith's relatives live several thousand miles away on the east coast of the United States, and she has a cousin in Florida (who she never met) who is "not right." In fact, unbeknownst to the Smiths, the cousin has Down syndrome. No one, not even their primary care provider, suggested to Mrs. Smith that she delve further into her family medical history. When she asked her primary care provider about her chance of having another child with Down syndrome, he responded "practically nil." Eighteen months later Mrs. Smith had another child with Down syndrome. Once again, prenatal testing and/or screening were not done. The Smiths were very angry and upset, especially with their primary care provider. If he had encouraged Mrs. Smith to obtain additional family medical history information, she easily would have found she has two maternal cousins, one living in Florida and the other in Pennsylvania, who have Down syndrome, and that several relatives on her mother's side of the family have had multiple miscarriages. This was all due to a 14/21 balanced translocation chromosome anomaly in Mrs. Smith's mother's side of the family. Both of the Smith children inherited an unbalanced 14/21 translocation form of Down syndrome! 1.Which of the competencies listed in Section One apply to this case report? 2.Should a chromosome study have been performed on the first Smith baby? 3.Would a complete three-generation family history have helped this family? 4.Did the Smiths ever receive standard of care genetic counseling? 5.Should options such as prenatal testing and/or screening have been offered to the Smiths? •Arguably, every competency (1-27) listed in Section One, with the possible exception of numbers 1 and 2. •Yes, a chromosome study on the baby's blood would have made the correct diagnosis and also suggested the need for additional chromosome studies in this family. •Yes, a complete three-generation family history would have strongly suggested that there is a balanced translocation running in Mrs. Smith's side of the family and also that there is a need to perform chromosome studies on Mrs. Smith and many of her relatives. •No. Yes

Music

Music has been shown to improve heart and respiratory rates, decrease blood pressure, decrease anxiety and pain and actually impact the structure of the brain. Nursing Implications: A study showed that music therapy instituted with a nurse present had a higher rate of success as an intervention for cancer patients. Nurses' presences matter!

Question 8

Nurses must understand cancer genetics because: A. They make up the largest number of direct care providers. B. There are insufficient genetic experts to translate cancer genetic information to patient and the public. C. They are the case finders for cancer predisposition. D. All of the above. Answer is D

Immunogenetics

Neuropeptides - neuroendocrine messengers that journey from brain to each cell in the body, binding to receptors Assist in functioning of the body's autonomic nervous system to regulate primary involuntary processes that include immune system and endocrine system as well as other bodily functions such as pulse, respiration, perspiration, digestion and blood circulation Single neuroendocrine system regulates: Internal state through nutrition, metabolism, excretion, water and salt balance, reaction to external stimuli, regulation of growth, development, reproduction and reduction or storage of energy Neuropeptides and neuroendocrine system: •Nerve endings are embedded in the tissues of the immune system, so it follows that changes in the central nervous system (brain and spinal cord) would alter immune responses. •Likewise, when an immune response is triggered, central nervous system activity is also altered. •Changes in hormone and neurotransmitter levels will similarly alter immune activity, and immune activity will alter hormone and neurotransmitter levels. •Lymphocytes can produce both hormones and neurotransmitters. •Activated lymphocytes produce neuropeptides recognized by the central nervous system. •Psychosocial factors alter the susceptibility to or progression of autoimmune and infectious diseases. •Immunologic reactivity can be influenced by stress. •Immunologic reactivity can be influenced by relaxation techniques, hypnosis, and biologically targeted imagery. •Immunologic reactivity can be modulated by classical conditioning. •Psychoactive drugs and drug abuse influence immune function. •Stress can interfere with the effectiveness of immunizations.

scope

Varies greatly in terms of incidence and symptom severity. Survivable forms: trisomy and monosomy. Tetrasomy: very rare. Nullisomy: generally not compatible with life and results in spontaneous abortions. Aneuploidy in general occurs in 1:160 live births.

Support Groups, Counseling & Journaling

Nurses should be familiar with available peer support groups for their patients. The nurse must be aware that genetics may cause guilt and anxiety in patients and be knowledgeable of counseling options available. Nurses should suggest journaling activities as a means for patients to clarify views, thoughts and feelings about genetics.

Activities to Strengthen the Immune System

Nutrition Eating right Taking care of our body Laughter Have been shown to strengthen the immune system. Music Music therapy Group Support Counseling Journaling Nutrition

The Family History

One of the most important tools used in diagnosing and assessing for common diseases. A positive family history for a heritable disease has been recognized as a risk factor for that disease in related individuals. It is the first step before genetic testing can be done. The genogram was developed by Murray Bowen.

Risks and cautions

Paternity Identification Helping the parents sort through science vs. sensationalism. Describing the difference between genotype and phenotype. Fetal Gender Pre-implantation testing to create a child who can serve as a donor to a sick child. See the movie My Sister's Keeper (https://en.wikipedia.org/wiki/My_Sister%27s_Keeper_(film))

Diagnostic Testing

Performed when there are indications that a condition may exist. The indicators may be due to the health history, screening tests, or environmental exposures. Ultrasound Can provide confirmation of congenital abnormalities. Can be used in conjunction with other procedures to guide instruments. Amniocentesis Withdrawal and analysis of amniotic fluid. Fetal cells are cultured and examined. Done in the second trimester. Fetal karyotyping is done. DNA and biochemical testing can be done. Dangerous Chorionic Villus Sampling Removal of tissue from the chorionic sac. Done during the first trimester. Fetal karyotyping is performed. Provides information earlier but does not give the depth of information that amniocentesis does. Carries a high risk of unintended spontaneous abortion. Pre-implantation Genetic Diagnosis Creates an embryo using IVF and then tests each embryo for conditions of concern. Theoretically it is possible to do this without the parents knowledge. This is extraordinarily expensive. Designer Babies

Question 7

Personal health care information: A. is not private. B. is not confidential. C. may never be revealed to another entity under any circumstances. D. may become known to others as the result of genetic testing. Answer is D

Personalized Medicine

Predisposition Genetic Testing Direct to Consumer Testing Like Ancestor DNA - 21 Me Biomarkers

Immunodeficiency Diseases

Primary: when one or more components of the immune system are missing or not functioning properly. (Hyper IgE Syndrome) Secondary: components of the immune system are destroyed by other factors. (HIV)

Oncogenes

Proto-oncogenes: normal genes whose protein products contribute to fundamental cellular processes such as cell division and differentiation. Everyone has it! Mutations in these genes result in oncogene formation. Proto-oncogenes (precancer) to oncogene (cancer) The presence of an oncogene is like having a gas pedal that is stuck to the floor board causing cells to continually grow and divide. Example: Gleevec® targets protein kinases in the BCR-ABL oncogene in chronic myeloid leukemia.

Education, Care and Support

Provide clients with interpretation of genetic information Can you explain it? Provide clients with credible genetic information to facilitate decision making Uses health promotion practices that consider genomic influences and incorporate genomic risk factors Uses genetic based interventions Collaborate with other healthcare providers to provide genomic health care Collaborates with insurance providers Performs interventions appropriate to clients' genomic health care needs Evaluates impact and effectiveness of genomic treatments. Above is for all of RNs

Tips

Purpose: to gather sound information to help develop diagnoses and assessments, screen for other existing or potential health problems, establish a relationship between the provider and the client and develop a health care plan. Choose a private location Use good lighting Use appropriate ye contact Acknowledge if other family members are present and whether it is appropriate Provide the purpose of the questions Start with open ended questions Go from general to specific Watch the use of euphemisms and heavy medical terminology Be aware of cultural differences Be respectful at all times For an example, if you are asking a group of people who are largely hispanic, do you have a history of major depression disorder. They will say no because they don't believe in it. Change the way you are asking.

Processional Responsibilities

Recognize one's attitudes and values related to genetic science Advocate for clients' access to genetic servies Examine competency of practice Incorporate genetic technologies and information into practice. Demonstrate in practice the importance tailoring genetic information to clients' abilities Advocate for the rights of clients to make genetic related decisions.

Autoimmune Diseases

Research done through GWA scans Associated with the MHC (major histocompatibility) complex and a breakdown in self tolerance. Newly associated with the allele for intracellular tyrosine phosphatase (PTPN22). Example: rheumatoid arthritis, SLE, psoriasis and MS. "Hygiene theory"

Newborn Screening & Genetic Testing of Children

Routine newborn screening does not require parental consent. Why? Diseases screened for are not contagious so is this a threat to public health? Should screening wait until the child is of age to consent? Are parents made extremely aware that their child's DNA will be stored at the lab facility? Concerns: Use of test results to deny access to health insurance Unequal access to diagnostic and treatment facilities based on health care disparities Anxiety created by a positive result

Terms

Sensitivity: the test's ability to identify those who are at risk for the condition and require further testing Specificity: a test's ability to accurately predict those who are not at risk for a specific condition and therefore do not necessarily require further testing False positives and False negatives

Public Health & Newborn Screening Programs

Should we be screening people for diseases there are no known cure for? If we can't cure it, if it is not for the greater good? Why are we doing it? What are the inequities present? Forcing people who can't deal with it to make difficult decisions when people who can deal with it give them time to prepare it Autonomy vs. beneficence

Critical Thinking

T. J. is a 8-year-old male who presents with a small chin, round face with protruding tongue, an almond shape to his eyes, and shorter-than-expected extremities. His speech is halting and cognition appears impaired. His parents have brought him in for evaluation of a rapid heart rate with occasional pain behaviors centered on his chest (holding chest while rocking accompanied by moaning) over the past week. His mother reports that he often appears to experience heartburn after eating, and she is expressing concern about the possibility of long-term medical complications. His father reports that they have been thinking about having another child but are concerned about the possibility of having another child with significant deficits. 1. Which condition are these symptoms most compatible with? 2. What form of aneuploidy is Down syndrome associated with? 3. What are the most common risk factors associated with aneuploidy that may be relevant to this case? 4. How would you respond to the father regarding the possibility of having another child? •These symptoms are consistent with a history of Down syndrome. Cognitive deficits are often significant and occur concomitantly with congenital cardiac defects, gastroesophageal reflux disease (GERD), and sleep apnea. The presence of recurring chest pain could reflect the presence of GERD or problems associated with a congenital cardiac defect. In terms of physical characteristics, children with Down syndrome exhibit a particular set of facial characteristics that include a protruding tongue, upward slanting (almond shaped) eyes, and a smaller skull than expected for age. These children also display hypotonicity and excessive flexibility due to ligamental laxity. They often have short, stubby fingers and broad hands. •Down syndrome is associated with trisomy 21. Trisomy 21 is the presence of an extra 21st chromosome caused by nondisjunction. This can be associated with either an extra full chromosome or a chromosomal segment. •The inheritable risk of Down syndrome ranges from 3%-12%, dependent on paternal or maternal risk. The primary risk factor for Down syndrome is maternal age. At the age of 35, the maternal risk of having a child with Down syndrome is 1 in 400. At age 45, the risk rises to 1 in 24 (Resta, 2005). •The inheritable risk of Down syndrome ranges from 3%-12%, dependent on paternal or maternal risk. Paternal risk is approximately 3%, primarily due to translocation.

Genes and Chromosomes

The basic unit of heredity is a gene, a segment of DNA that contains the information necessary to create a specific protein. Genes are located on chromosomes in specific spots and in specific sequences. Each cell contains identical genetic material and the same DNA code but not all DNA code is active in all cells. Which code is active determines which type of cell it will become. Somatic cell - 46 chromosomes (23 from each parent) 44 Chromosomes are autosomal (22 pair) 2 chromosomes are sex linked chromosomes (1 pair) Totaling: 46 or 23 pairs Gametes - 23 chromosomes (22 chromosomes + 1 sex chromosomes either X or Y, X for mother and X or Y for fathers) Mothers can only give X but Fathers can give both X or Y and determine the gender of the baby.

Question 9

The environment may influence risk and progression of common diseases by: A. Affecting lifestyle choices. B. Influencing epigenetic changes in DNA. C. Having direct effects on DNA. D. All of the above.

Human Genome Project

The leaders of the HGP were proactive in addressing the policy issues that would arise from the genomic era of health care. A minimum of 5% of each year's budget was set aside for research that could help address the ethical, legal and social implications of genetic discoveries.

Monosomy

The loss of one chromosome 2n-1 Examples: Turner Syndrome, Klinefelter Syndrome

Nullisomy

The loss of two chromosomes 2n-2 Often not compatible with life, however some partial nullisomy is compatible with life and results in certain medical conditions. Example: studies on autism.

Question 1

The process by which genetic variation is created is called: A. nondisjunction B. cell division C. asexual reproduction D. crossing over Answer is crossing over

Meiosis

The process by which germ cells, eggs and sperm are formed. The result is 4 haploid daughter cells with 23 chromosomes each.

Psychoneuroimmunology

The study of stress interactions between psychological processes and the nervous and immune systems. This includes both the physical and social environments. Social Genomics Remember: the epigenome is flexible. Diseases related to stress - hypertension, heart disease (MI), GI problems

Critical thinking chapter 4

The two meiotic divisions in sperm cells occur during spermatogenesis. In oogenesis the first part of meiosis occurs during fetal development, and meiosis is completed after puberty. 1.Do you think that the amount of time between these events may have something to do with the fact that the rate of infants born with chromosomal abnormalities increases with maternal age? CRITICAL THINKING CHECKPOINT ANSWERS Spermatogenesis takes approximately 64 days for the entire process. Each phase takes 16 days, so the possibility of environmental insult during the time of meiosis is much less. Since oocytes spend a much longer time in meiosis, the chance of environmental insults is significantly greater and increases with maternal age. While there is some evidence that increasing paternal age plays a role in chromosomal abnormalities, the role is much smaller.

Presymptomatic Genetic Testing

The woman has the right to choose whether or not to undergo screening testing. We as practitioners must provide the women with concrete, correct, sound information regarding positive conditions so they can make informed decisions regarding their pregnancies. This is a highly charged, emotional issue.

Competencies for PCH RNs (Public or Community Health nurse only)

There are additional competencies for Public/Community Health nurses. These include but are not limited to: Cellular and molecular biology knowledge Knowledge of genomics Epidemiological and statistical method knowledge Financial planning and systems management Cultural awareness Structure and function of government Mobilizing community partnerships Support for research and training Efforts that ensure a workforce that is competent in genetic and genomic healthcare

Aneuploidy and Aging

There are strong relationships present between maternal age and incidence of aneuploidy. At 35: 1:400 At 45: 1:24 Operative premise: increased maternal age leads to increased incidence of nondisjunction. This could be due to increased levels of gonadotropin, increased levels of proteins that cause nondisjunction. Paternally it is thought that aging has adverse effects on sperm quality.

Epigenome: Histone Methylation

This is a second method for gene silencing involving modifications to histone tails after translation. In cancer, histones tighten and prevent a gene from being exposed to translation causing it to be silenced.

Interphase

This is the longest phase of the cell cycle Gap 1 Begins immediately after mitosis RNA, protein, and other molecules are synthesized Synthesis DNA is replicated Chromosomes become double stranded Gap 2 Mitochondria divide Precursors of spindle fibers are synthesized

Common diseases

Those with high prevalence and mortality. Mostly defined by phenotype. Genetic markers have been difficult to identify as different genotypes can give rise to the same overall pathologic changes and disease manifestations. D

Diabetes

To date 40 genes have been linked to increased risk for NIDDM however, these account for only 10% of heritable risk. Most genes that have been identified have roles in beta cells, pancreas, or pancreatic functioning. Very few genes have been identified that are linked to NIDDM pathophysiology (insulin resistance, glucose metabolism). Little supporting evidence of epigenetic factors is available at this time.

DNA Repair

Two major types The first repairs DNA damage caused from external sources and includes the BER (base excision repair) pathway. (UV rays) The second repairs mistakes made during DNA replication and includes the MMR (mismatch repair) pathway.

Ultrasound

Ultrasound: may identify areas of concern Example: a large area of fetal nuchal translucency may indicate Down Syndrome and indicate the need to perform karyotype testing

Laughter

Vascular research shows that laughter increased blood flow via vasodilation by 22% whereas stress decreased it by 35%. Nursing Implications: Laughter history documentation is now being encouraged as a measure of emotional well being. We can assist patients in reducing stress by being pleasant and sincere always. Or practice laughter yoga with your patients

Implications for Practice

Vidaza ® and Dacogen ® are DNA methyltransferase inhibitors. Istodax ® and Valproic Acid (for Bipolar Disorder - Depakote) are histone deacetylase inhibitors.

Dr. Jose Ordovas: The DNA Diet

We should be screened genetically for hypertension, heart disease so at a young age, we can custom fit our diet to fit what our genome need Nursing Implications: We can encourage patients to keep a food diary to chronical what they eat, when and why. This will help us to collaborate with the patient to make changes specific to the patient's needs.

Immune cells 2

What are the cells involved and what is special thing about each cell (this will help you recognize it on a test.) 1. Granulocytes - characterized by the present of granules in their cytoplasm. Also they are called Polymorphonuclear leuokcytes (PMNL) because their nucleus have three or five lobes of the nucleus 2. Agranulocytes - they do not have granules in their cytoplasm. They only have one lobe for their nucleus. Name of Cell Granulocytes or Agranulocytes? What does it do? Location Apply to nursing care Endothelial cells None helped to separate from intravascular and the extravascular spaces - they provide a selective permeability barrier to exogenous (microbial) and endogenous inflammatory stimuli; regulate leukocyte extravasation by expression of adhesion molecules and receptor activation; contribute to the regulation and modulation of immune responses through synthesis and release of inflammatory mediators; and regulate immune cell proliferation through secretion of hematopoietic colony-stimulating factors (CSFs). Endothelial cells also participate in the repair process that accompanies inflammation through the production of growth factors that stimulate angiogenesis and extracellular matrix synthesis. Form the lining of the blood vessels - single cell thick - known as simple squamous cell Important to maintain good wound care to allow the endothelial cell to perform vasodilation to allow the blood flow and the increase permeability to fight off the infections and repair the wound. neutrophils Granulocytes Also known as PMN - polymorphonuclear neutrophils due to having a nuclei that is divided into 3 or 5 lobes. Account for 60-70% of the immunity. Neutrophils are scavenger cells capable of engulfing bacteria and other cellular debris through phagocytosis. Their cytoplasmic granules, which resist staining and remain a neutral color, contain enzymes and other antibacterial substances that are used in destroying and degrading engulfed microbes and dead tissue. Neutrophils also have oxygen-dependent metabolic pathways that generate toxic reactive oxygen (e.g., hydrogen peroxide) and nitrogen (e.g., nitric oxide) species that aid in the destruction of engulfed pathogens. They have pseudopods used in amoeboid movement (like amoeba) and are highly mobile. Arrived within 90 minutes of infections. Have short life span - 24 or 48 hours. Appears at acute inflammation Produced in bone marrow Elevated WBC with neutrophils indicate the beginning stage of infections eosinophils Granulocytes account for 2% to 3% of circulating leukocytes and are recruited to tissues in a similar way as the neutrophils. Eosinophils also play an important role in allergic reactions by controlling the release of specific chemical mediators. They interact with basophils and are prominent in allergic reactions such as hay fever and bronchial asthma. Eosinophils have a longer life span than neutrophils and therefore are present in chronic inflammation. Their appearance at the site of inflammation occurs 2 to 3 hours after the neutrophils. This is, in part, because of their slower mobility and comparatively slower reaction to chemotactic stimuli. Produced in bone marrow Elevated WBC for eosinophils may indicate allergies reactions and chronic inflammation Monocytes/macrophages agranulocytes Account 3 to 8% of WBC. Largest of the WBC. Monocyte/macrophages produce potent vasoactive mediators including prostaglandins and leukotrienes, platelet-activating factor (PAF), inflammatory cytokines, and growth factors that promote regeneration of tissues.8,9 As their name implies, macrophages are capable of phagocytosis and are active in bacterial killing. They engulf larger and greater quantities of foreign material than the neutrophils, and their circulating life span is three to four times longer than that of any granulocyte. These longer-lived phagocytes help to destroy the causative agent, aid in the signaling processes of immunity, serve to resolve the inflammatory process, and contribute to initiation of the healing processes. Monocytes are produced in the bone marrow but macrophages are produced by monocytes when entering the blood stream Help to maintain chronic inflammation - macrophages lymphocytes agranulocytes They participate in immune-mediated inflammation caused by infectious agents as well as non-immune-mediated inflammation associated with cell injury and death. Both T and B lymphocytes (T and B cells) migrate into inflammatory sites using some of the same adhesion molecules and chemokines that recruit neutrophils and other leukocytes. In the inflammatory site, they produce antibodies directed against persistent antigens and altered tissue components. In some intense, chronic inflammatory reactions, plasma cells and other lymphocytes may accumulate to form geminal centers that resemble lymph nodes Plasma cells developed into B lymphocytes They produced the antibodies such as IgG which would show up in lab results for a serum titer. Such as having either the disease or been immunized against it. Basophils/mast cells granulocytes Account for less than 1% of the circulating leukocytes. They are important in allergic reactions. Binding of IgE triggers release of histamine and vasoactive agents from the basophil granules. Mast cells derive from the same hematopoietic stem cells as basophils but do not develop until they leave the circulation and lodge in tissue sites. They are particularly prevalent along mucosal surfaces of the lung, gastrointestinal tract, and dermis of the skin.2,10 This distribution places them in a sentinel position between environmental antigens and the host for a variety of acute and chronic inflammatory conditions. Activation of mast cells results in release of the preformed contents of their granules (e.g., histamine, proteases, cytokines such as tumor necrosis factor-α [TNF-α] and interleukin-16 [IL-16], growth factors such as vascular endothelial growth factor [VEGF]) and synthesis of lipid mediators derived from cell membrane precursors (arachidonic acid metabolites, such as prostaglandins, and platelet-activating factor).

Question 3

Which of the following are determinants of health and illness? A. Genetic/ genomic factors B. Environmental factors C. Behavioral Factors D. All of the above E. A and B only Answer is D

Question 7

Which of the following describes the essential cause of autoimmunity? A. Too many antigenic determinants. B. Lack of antibody formation. C. Breakdown in self- tolerance. D. Lack of macrophages. Answer is C

Question 2

Which of the following is a reliable risk factor for the development of aneuploidy? A. Cigarette smoking B. Maternal Age C. Paternal age D. Smog Answer is B

Question 5

While genetic testing can identify the genetic composition of an individual, also known as the ________; it may not be able to accurately determine what a person actually will look like, which is known as the _________. A. genotype, phenotype B. phenotype, genotype C. phenotype, allele D. genotype, allele Answer is A

Critical Thinking

Zoe is a 38-year-old, Caucasian woman who is pregnant for the first time. She and her husband are excited about the pregnancy. Her husband appears to be scared and states that both sides of the family have experienced pregnancy losses. The pregnancy is approximately 12 weeks along. 1. What prenatal testing and screening would be appropriate for this woman? 2. Is a family history important in this case? 3. Are there any factors that put this woman at risk for a genetic problem? 4. What is the role of the nurse before and after the prenatal tests are done? 5. What follow-up care would be necessary? •This woman would undergo normal prenatal testing and screening but in addition she may want to consider chorionic villus sampling and/or an amniocentesis. •A family history is always important to see what might be revealed about the offspring. In this case it is particularly important as there has been a report of pregnancy losses on both sides of the family. •Any woman who is pregnant after the age of 35, especially for the first time, is considered at risk for genetic problems. The other red flag for this woman is the history of pregnancy losses on both sides of the family. •The nurse must ensure that the woman and her husband understand what the nurse midwife, nurse practitioner, or physician has told them regarding the need for routine as well as specific prenatal testing and screening. After the tests are done, the nurse must confirm the couple's understanding of the test results and help them to voice any questions or concerns they might have. Even if the test results are fine, the family may need reassurance as they have mostly likely been anxious about the results and may still be anxious about the pregnancy outcome due to the family history of pregnancy losses. •The type of follow-up care depends on the test results and the family's needs. This follow-up must be tailored to each individual family.

Pretest chapter 13

•1. A family history can do all of the following, EXCEPT 1.help to establish a pattern of inherited disorders. 2.assist in identification of individuals who are at risk for genetic diseases. 3.determine who is a carrier of a genetic disease. 4.determine when someone will develop symptoms for a genetic disease. •2. The primary purpose of an individual's health history is to 1.gather sound information to help develop diagnoses and assessments. 2.establish a pattern of disease. 3.assist in identifying individuals at risk for developing inherited disorders. 4.determine how an individual responds to treatment. 1.1 and 2 2.1, 2, and 3 3.All of the above 4.None of the above •3. What is not considered a cultural factor? 1.Language 2.Health beliefs 3.Skin color 4.Religion •4. A health history on a 2-year-old child should include 1.mother's menstrual history. 2.father's surgical history. 3.prenatal and birth history. 4.mother's infertility history. •5. An example of consanguinity is when a child is born to a woman who is married to her uncle. A.True B.False •6. A pedigree is a graphic presentation of a family history using the following EXCEPT 1.pictures. 2.words and numbers. 3.abbreviations. 4.symbols. •7. The occurrence of affected individuals in every generation in a family suggests a trait. 1.autosomal dominant 2.autosomal recessive 3.random assortment 4.sex-linked •8. A family pedigree is considered a confidential and private document that must be protected. A.True B.False •9. A Punnett square is 1.a symbol used in a pedigree that indicates a female. 2.a mathematical tool used to predict the due date in a pregnancy. 3.a diagram that shows all possible genetic combinations of two parents. 4.a tool used to predict height of children based on their parents' stature. •10. A professional nurse with specialized education and training in genetics may be credential as a genetic clinical nurse (GCN). A.True B.False 1. C; 2. B; 3. C; 4. C; 5. A; 6. A; 7. A; 8. A; 9. C; 10. A

Posttest for chapter 10

•1. A recessive condition occurs when 1.one parent has a copy of abnormal gene. 2.both parents have a copy of the same abnormal gene. 3.neither parent has a copy of an abnormal gene. 4.a mutation in the genes occurs. •2. Prenatal screening is used for 1.only women who are at risk for a genetic condition. 2.only women who are advanced maternal age. 3.only women who request the screening. 4.all women who are pregnant. •3. Preconceptual screening is 1.useful to promote health and disease prevention. 2.a waste of time and money. 3.reserved for high risk childbearing women. 4.not recommended by any professional organizations. •4. Screening tests are used to 1.determine risk. 2.diagnosis a disease. 3.make a treatment plan. 4.teach women about genetics. •5. A woman who is at risk for producing a baby with a neural tube defect 1.should undergo prenatal screening and testing for alpha fetoprotein and have an amniocentesis. 2.must undergo prenatal screening and testing for alpha fetoprotein and have an amniocentesis. 3.should wait until the baby is born to determine what diagnostic tests should be done. 4.must wait until the baby is born to determine what diagnostic tests should be done. •6. Diagnostic tests are used to 1.determine risk. 2.diagnose a disease. 3.make a treatment plan. 4.teach women about genetics. •7. While genetic testing can identify the genetic composition of an individual, also known as the , it may not be able to accurately determine what a person actually will look like, which is known as the . 1.genotype; phenotype 2.phenotype; genotype 3.phenotype; allele 4.genotype; allele •8. Interconceptual education is important because 1.many pregnancies are unplanned; therefore, risks are undetermined. 2.a woman needs to know about genetic risks prior to pregnancy. 3.the time between pregnancies is when women tend to see their provider. 4.All of the above •9. Genetic testing is a new concept. A.True B.False •10. The family history tool is used 1.only when a woman is pregnant. 2.only when a woman is at risk for a genetic condition. 3.throughout the lifespan for any person. 4.throughout the lifespan for any person at risk for a genetic condition. 1. B; 2. D; 3. A; 4. A; 5. A; 6. B; 7. A; 8. D; 9. B; 10. C

Pretest for Chapter 5

•1. Aneuploidy is the presence of 1.telomere shortening. 2.telomere lengthening. 3.an abnormal number of chromosomes. 4.a lack of normative nullisomy. •2. Aneuploidy is believed to be caused by 1.low levels of steroidal hormones. 2.carcinogens. 3.maternal age under 18. 4.paternal age under 18. •3. Nullisomy is the 1.loss of one chromosome. 2.loss of two chromosomes. 3.addition of one chromosome. 4.addition of two chromosomes. •4. Monosomy is the 1.loss of one chromosome. 2.loss of two chromosomes. 3.addition of one chromosome. 4.addition of two chromosomes. •5. Down syndrome is an example of 1.nullisomy. 2.monosomy. 3.tetrasomy. 4.trisomy. •6. Autosomes are best described as 1.sex chromosomes. 2.chromosomes related to autoimmune processes. 3.chromosomes associated with brain and spinal cord development. 4.those chromosomes responsible for aneuploidy. •7. Disjunction refers to a process that occurs during cell 1.apoptosis. 2.meiosis. 3.nullisomy. 4.trisomy. •8. Humans normally have how many chromosomal pairs? 1.8 2.19 3.23 4.46 •9. Trisomy is the 1.loss of one chromosome. 2.loss of two chromosomes. 3.addition of one chromosome. 4.addition of two chromosomes. •10. The development of cancer could be considered a form of 1.nonrandom aneuploidy. 2.random aneuploidy. 3.parsimony. 4.tetrasomy. 1. C; 2. B; 3. B; 4. A; 5. D; 6. C; 7. B; 8. C; 9. C; 10. A

Pre test for chapter 10

•1. Autosomal refers to the 1.chromosomes that are not related to sex/gender. 2.chromosomes that are responsible for sex/gender. 3.chromosomes that are broken. 4.chromosomes that are X-linked. •2. Prenatal testing is 1.required only for women who are at risk for producing an infant with a genetic problem. 2.required for all women who are pregnant. 3.recommended for all women planning a pregnancy. 4.recommended for all women who are pregnant. •3. The ideal time to consider perinatal health is 1.prenatally once pregnancy is confirmed. 2.antepartally before the third trimester. 3.intrapartally before the delivery. 4.preconceptually before the pregnancy begins. •4. Chorionic villus sampling is usually done 1.during the first trimester. 2.during the second trimester. 3.during the third trimester. 4.at any time. •5. Mendelian inheritance patterns include 1.autosomal dominant. 2.autosomal recessive. 3.mutations. 4.Both A and B •6. A woman of advanced maternal age is one who is 1.over the age of 30. 2.over the age of 35. 3.over the age of 40. 4.over the age of 45. •7. A woman of advanced maternal age is at 1.greater risk for producing an infant with a genetic problem than a younger woman. 2.equal risk for producing an infant with a genetic problem than a younger woman. 3.less risk for producing an infant with a genetic problem than a younger woman. 4.unknown risk for producing an infant with a genetic problem. •8. X-linked conditions can be passed from fathers to their 1.daughters. 2.sons. 3.Both A and B 4.Neither •9. 9. A screening test can be used to make a definitive diagnosis of a genetic condition. A.True B.False •10. 10. Cultural beliefs and values affect the attitude towards prenatal testing and screening. A.True B.False 1. A; 2. D; 3. D; 4. A; 5. D; 6. B; 7. A; 8. A; 9. B; 10. A

Pretest for chapter 11

•1. Civilians organized Boards of Health to address rampant spread of diseases to maintain healthy populations. A.True B.False •2. Which statement is true about a false positive screen? 1.The individual has the disease or illness but the screen is negative. 2.Further testing is not needed. 3.The screen is positive and the individual has the disease or illness. 4.The screen is positive but the individual does not have the disease or illness. •3. Which of the following statements is true about validity? 1.It refers to whether or not an instrument, test, or screen accurately measures what it is supposed to measure. 2.It refers to whether or not an instrument, test, or screen consistently measures what it is supposed to measure. •4. Mass spectrometry (MS/MS) has become the primary instrument for analyzing blood samples obtained from infants following birth. A.True B.False •5. Ethics is 1.the examination of moral reasoning. 2.guided by a set of longstanding principles that have served as the foundation for ethical decision making. 3.categorized by profession (medicine, nursing, teaching) and by specialty (bioethics, biotechnology). 4.All of the above •6. Cystic fibrosis 1.usually presents in infancy. 2.is a hereditary disease that primarily affects the lungs, pancreas, intestine, liver, sweat glands, and male reproductive tract. 3.can be treated with a pancreatic enzyme, fat soluble vitamin, and salt supplementation, if detected by newborn screen. 4.All of the above •7. Congenital hypothyroidism is 1.not detected by newborn screen. 2.a disabling and untreatable condition. 3.associated with significant neurologic impairment. 4.treated with human insulin. •8. The method used to ensure the voluntary participation of subjects is 1.justice. 2.beneficence. 3.informed consent. 4.fidelity. •9. If the parent declines the newborn screen after they have been thoroughly educated 1.a refusal form may need to be completed depending upon the state or hospital of birth. 2.the nurse will need to contact social services to report neglect. 3.the nurse will obtain the newborn screen regardless of parental wishes because it is state law. 4.None of the above •10. Some advocate for newborn screening of prenatal exposure to which of the following substances? 1.Drugs 2.Alcohol 3.Nicotine 4.All of the above 1. A; 2. D; 3. A; 4. A; 5. D; 6. D; 7. C; 8. C; 9. A; 10. D

Posttest for chapter 9

•1. Genetic testing can be used for 1.determining insurability. 2.determining whether a person will definitely develop a genetic condition later in life. 3.providing services to individuals with disabilities. 4.denying employment. •2. The branch of the Human Genome Project that studies ethical and social concerns is 1.ELSI. 2.AHRQ. 3.CDC. 4.FDA. •3. The federal prohibition on genetic discrimination is a part of 1.ELSI. 2.the FDA. 3.GINA. 4.the CDC. 1. B; 2. A; 3. C

Pretest for chapter 2

•1. Genetic/genomic bio-banking refers to the collection and storage of biological materials for research and other purposes including, but not limited to, clinical diagnosis, treatment and/or the prognosis of genetic diseases, and other genetic health-related issues. A.True B.False •2. Community health nurse practice refers to nursing practice that emphasizes both personal health care practice and public health nurse practice. A.True B.False •3. The [three words] refers to a multiyear, multibillion dollar, international research project, completed in 2003, whose primary aim was to determine the sequence of the chemical base pairs that make up human DNA, and to identify and map the approximately 25,000 genes in the human genome from a physical and functional standpoint. What are three words are missing from the preceding sentence? •4. Epidemiology refers to the A.study of the distribution of health-related events and states. B.frequency of health-related events and states. C.determinants of health-related events and states. D.control and/or prevention of health-related problems. E.All of the above •5. Essential competencies, curricula guidelines, and outcome indicators for all registered nurses in the United States have been developed by an independent panel of nurse leaders from clinical, research, and academic settings whose goal was to establish the minimum basis by which to prepare the nursing workforce to deliver competent genetic- and genomic-focused nursing care. A.True B.False •6. Primary prevention refers to efforts aimed at A.reducing the incidence of specific disorders, injury, and disability, including birth defects. B. minimizing the clinical manifestations of specific disorders, injury, and/or disability, including birth defects, through disease management. C.averting and/or preventing social, financial, ethical, and legal burdens and situations including, for example, stigmatization, discrimination, and/or bias against affected patients, families, and communities. D.All of the above •7. Registered nurses treat and educate patients, families, and communities; record medical histories; perform physical examinations; order tests and analyze their results; utilize equipment; administer treatments including medications; and help patients and families with follow-up care. A.True B.False •8. Genetic counseling refers to a communication process that helps individuals, families, and communities understand and adapt to which of the following implications of the genetic contributions to disease? A.Biological B.Medical C.Psychological D.Financial E.Ethical F.Legal G.Social H.All of the above •9. Genetic testing refers to A.a diagnostic evaluation to determine if a genetic condition is present. B.analyzing a population to determine which individuals are at risk for a genetic disease or for transmitting one C.Both A and B •10. Health literacy refers to which of the following? A.Cultural and conceptual knowledge B.Listening and speaking skills C.Writing and reading skills D.The ability to understand and work with numbers (numeracy), as they pertain to health and health care E.All of the above F.B and C, above 1. A; 2. A; 3. Human Genome Project; 4. E; 5. A; 6. A; 7. A; 8. H; 9. A; 10. E

Pretest for chapter 9

•1. Professional nursing has a code of 1.social policy. 2.legal regulations. 3.financial rules. 4.ethics. •2. Nurses have a social contract with 1.doctors. 2.hospitals. 3.each other. 4.society. •3. An example of a specialty that developed technical advances without concurrent ethical guidelines is 1.assisted reproductive technology. 2.pharmacology. 3.surgery. 4.orthopedics. •4. The regulations that mandate the privacy of personal health care information are known as 1.GINA. 2.HIPAA. 3.Dodd-Frank. 4.the Affordable Health Care Act. •5. Public policy implications of the Human Genome Project are 1.mandated by law. 2.promulgated by regulation. 3.unique to genetics. 4.important sequelae of the scientific genetic discoveries. •6. Genetic testing on newborns 1.is standardized across the country. 2.is universal across the globe. 3.varies from state to state. 4.is covered by all forms of health insurance. •7. Nurses' actions related to patient confidentiality 1.are directed by individual institutional policy. 2.are discussed in the Code of Ethics. 3.are regulated by the State Boards of Nursing. 4.is based on the individual nurse's understanding of the specific situation. •8. Testing of children for definitive diagnosis of a genetic condition 1.requires informed parental consent. 2.is a routine practice that does not require informed parental consent. 3.can be performed if the child agrees to the procedure. 4.is not allowed under any condition. •9. Women consenting to prenatal genetic testing 1.use the information from testing to make informed decisions related to the future course of the pregnancy. 2.always terminate the pregnancy if they learn that the fetus is affected with a genetic condition. 3.always need to have the consent of the father of the baby before making the decision to terminate a pregnancy. 4.always need to have the consent of the father of the baby before undergoing genetic testing. •10. People who have a family history of an adult-onset genetic condition 1.are required to have genetic testing before they can purchase health or life insurance. 2.face significant discrimination in the workplace unless they can document they are not at risk for the condition. 3.should be required to have genetic testing before they attempt to become pregnant. 4.should be encouraged to make an informed decision about whether or not to be tested for the condition. 1. D; 2. D; 3. A; 4. B; 5. D; 6. C; 7. B; 8. A; 9. A; 10. D

Posttest chapter 11

•1. Results of a screen are considered to be false positive when 1.results are interpreted as negative when actually positive. 2.results are interpreted as positive when actually negative. 3.results are interpreted as positive when actually positive. 4.results are interpreted as negative when actually negative. •2. The degree to which a test measures what it claims to measure is called 1.validity. 2.reliability. 3.accuracy. 4.specificity. •3. In most newborn screens blood is taken from the infant by a(n) 1.antecubital stick. 2.heel stick. 3.finger stick. 4.arterial stick. •4. Ethics is the branch of philosophy that all includes of the following EXCEPT 1.values that pertain to human conduct. 2.moral reasoning about what is right actions. 3.determination of punishment for immoral actions. 4.correctness of personal and social actions. •5. Cystic fibrosis is an autosomal recessive disorder. A.True B.False •6. Congenital hypothyroidism falls into which of the following category of disorders? 1.Endocrine 2.Hematology 3.Metabolic 4.Other •7. Newborn screening programs fall under which level of governmental oversight? 1.Federal 2.State •8. The primary type of test used to analyze newborn screening results is 1.Acumeter. 2.MS/MS. 3.Polymerase chain reaction (PCR). 4.Radioallergosorbent test (RAST). •9. The only newborn screen not accomplished through a blood test is hearing. A.True B.False •10. A newborn disorder that is categorized in the core conditions as genetic is 1.congenital adrenal hypoplasia. 2.cystic fibrosis. 3.homocystinuria. 4.citrullinemia. 1. B; 2. A; 3. B; 4. C; 5. A; 6. A; 7. B; 8. B; 9. A; 10. B

Pretest for chapter 15

•1. The first line of defense in protecting the body from infection includes all the following components EXCEPT 1.unbroken skin. 2.normal microbial flora. 3.phagocytic leukocytes. 4.secretions such as mucus. •2. Natural immunity is characterized as being 1.innate or inborn. 2.able specifically to recognize exogenous or endogenous agents. 3.able selectively to eliminate exogenous or endogenous agents. 4.part of the first line of body defenses against microbial organisms. •3. Delayed hypersensitivity is also referred to as 1.humoral immunity. 2.cell-mediated immunity. 3.B-cell hypersensitivity. 4.cytotoxic hypersensitivity. •4. The most immediate and severe manifestation of immediate hypersensitivity reaction is 1.anaphylaxis. 2.anaphylactoid. 3.itching. 4.sneezing. •5. Immediate hypersensitivity consists of the reactions primarily mediated by the class of immunoglobulins. 1.IgM 2.IgG 3.IgE 4.IgA •6. Components of the cellular natural immune system include 1.mast cells, neutrophils, and lymphocytes. 2.macrophages, mast cells, and neutrophils. 3.neutrophils, mucus, and mast cells. 4.mast cells, interferons, and neutrophils. •7. Components of the humoral natural immune system include 1.complement, lysozyme, and interferons. 2.lysozyme, mucus, and complement. 3.macrophages, complement, and lysozyme. 4.complement, lymphocytes, and lysozyme. •8. Another term for adaptive immunity is 1.antigenic immunity. 2.acquired immunity. 3.lymphocyte reactive immunity. 4.phagocytosis. •9. Humoral components of the adaptive immune system include 1.T lymphocytes. 2.B lymphocytes. 3.antibodies. 4.saliva. •10. Which type of antibody is capable of placental transfer? 1.IgM 2.IgG 3.IgA 4.IgD 1. C; 2. A; 3. B; 4. A; 5. C; 6. B; 7. A; 8. B; 9. B; 10. B

Posttest chapter 15

•1. The strength of a bond between a single antigenic determinant and an individual combining site is called 1.specificity. 2.affinity. 3.avidity. 4.immune complex. •2. The ability of an antibody to combine with one antigen instead of another is referred to as 1.immune complex. 2.affinity. 3.specificity. 4.avidity. •3. Antigens are characterized by all of the following EXCEPT 1.they are usually large organic molecules. 2.they are usually lipids. 3.they can be glycolipids or glycoproteins. 4.they are also called immunogens. •4. Antibodies are also referred to as 1.immunoglobulins. 2.haptens. 3.epitopes. 4.gamma globulins. •5. The strongest bond of antigen and antibody chiefly results from the 1.type of bonding. 2.goodness of fit. 3.antibody type. 4.quantity of antibody. •6. Immediate hypersensitivity consists of the reactions primarily mediated by the class of immunoglobulins. 1.IgM 2.IgG 3.IgE 4.IgA •7. This immunoglobulin is found in tears, saliva, colostrum, milk, and intestinal secretions. 1.IgM 2.IgG 3.IgE 4.IgA •8. Antigen presenting cells are typically . 1.T cells 2.macrophages 3.B cells 4.mast cells •9. The identification proteins on the surface of cells belong to a class of molecules called the 1.cytokines. 2.major histocompatibility complex. 3.interleukins. 4.interferons. •10. are cytokines that cause fever, temporarily maintaining a higher body temperature. 1.Interferons 2.Interleukins 3.Tumor necrosis factors 4.Collectins 1. B; 2. C; 3. B; 4. A; 5. B; 6. C; 7. D; 8. B; 9. B; 10. B

Posttest for chapter 13

•1. Tips for obtaining a comprehensive family health history include which of the following? 1.Ask specific questions of the individual and family. 2.Use leading questions to help the client remember the information. 3.Explain the purpose of the questions to the client. 4.Do not waste time socializing with the client before the interview. •2. A red flag in a family health history includes all of the following EXCEPT 1.several relatives who are affected with the same disease. 2.early sudden death of an individual. 3.a disorder that occurs later in life. 4.a child whose parents are closely related. •3. An example of a second-degree relative is a 1.mother. 2.grandfather. 3.cousin. 4.daughter. •4. The family history is considered the first risk assessment or genetic screen in primary care. A.True B.False •5. Barriers to obtaining a family health history include the following EXCEPT 1.many people do not know their family history. 2.multiple family members may want to contribute to the history. 3.family members may not want to reveal sensitive information such as alcoholism. 4.it may be difficult to identify disease patterns in small families. •6. In the pedigree of an individual with an autosomal dominant trait, one would observe 1.it is always inherited from the mother. 2.it does not skip generation. 3.it only affects females. 4.it only affects males. •7. Related individuals who have children together have a higher risk of having a child who is affected with a(n) condition. 1.mosaic 2.autosomal dominant 3.autosomal recessive 4.None of the above •8. A couple who are both carriers for sickle cell disease, an autosomal recessive disorder, is pregnant. What is the probability that their unborn child will be affected? 1.0% 2.25% 3.50% 4.100% •9. Consanguinity is displayed in a pedigree by 1.a double vertical line. 2.a double forward slash. 3.a double horizontal line. 4.a single back slash. •10. A pedigree that has only male family members (squares) who are affected is probably displaying a(n) disorder. 1.autosomal dominant 2.autosomal recessive 3.Y-linked 4.X-linked 1. C; 2. C; 3. B; 4. A; 5. B; 6. B; 7. C; 8. B; 9. C; 10. D

Pretest for chapter 18

•1. Which disease consistently accounts for highest mortality in the United States? 1.HIV infection 2.Cardiovascular disease 3.Diabetes mellitus 4.Cancer •2. Family history can provide information about 1.shared genetic risks for disease. 2.shared environmental risks for disease. 3.both shared genetic and environmental risks for disease. •3. Race is a very good indicator of an individual's genotype. A.True B.False •4. Candidate gene studies 1.select a gene for study based on a hypothesis about the gene's role in a disease. 2.do not require any prior knowledge about the gene. 3.are done by examining large families. 4.are no longer useful. •5. Most common diseases are 1.monogenetic. 2.polygenetic. 3.epigenetic 4.heritable •6. Epigenetic changes 1.are always permanent. 2.cannot be identified. 3.modify DNA to turn genes on or off. 4.All of the above •7. Most of the genetic linkages to Type 2 diabetes mellitus found in genome-wide association studies have involved genes associated with 1.insulin resistance. 2.obesity. 3.glucose metabolism. 4.development of pancreatic beta cells. •8. Which of the following common diseases can have a monogenetic cause? 1.Type 2 diabetes mellitus 2.Chronic Obstructive Pulmonary Disease 3.Hyperlipidemia 4.All of the above •9. In some cases, the same genes are associated with more than one common disease. A.True B.False •10. Better knowledge about genetic linkages to common diseases could improve care by 1.identifying ethnic groups with specific disease-associated genes. 2.improving the ability to tailor interventions. 3.enabling providers to select which patients to treat. 4.reducing costs for diagnostic tests. 1. B; 2. C; 3. B; 4. A; 5. B; 6. C; 7. D; 8. D; 9. A; 10. B

Posttest for chapter 16

•1. Which of the following best describes the cause(s) of cancer? 1.A "critical gene" mutation 2.The accumulation of DNA mutations as well as changes in epigenetic processes 3.An inherited genetic condition 4.A complex, multistep process •2. Which of the following is NOT a hallmark capability of cancer according to Hanahan & Weinstein (2011)? 1.Ability to sustain chronic proliferation 2.Ability to evade growth suppressors 3.Ability to generate germline mutations 4.Ability to resist cell death 5.Ability to activate invasion and metastasis •3. Which of the following best describes a proto oncogene? 1.A subset of tumor suppressor genes 2.A gene that when mutated can become an oncogene 3.A gene with a point mutation that is common in many cancers 4.A gene that makes proteins that inhibit normal cell division 5.A major cause of chronic myelogenous leukemia •4. Which of the following best describes why viruses like Epstein Barr and hepatitis B can contribute to cancer development? 1.Infection with these viruses leads to clonal expansion of infected cells with loss of normal function. 2.Infection with these viruses can activate invasion and metastasis. 3.Viral DNA are inserted into cellular DNA during replication. •5. The development of drugs that target angiogenesis are a promising new model for treating cancer. A.True B.False •6. Which of the following has NOT been described as an effect of epigenetics? 1.Epigenetics has the ability to chemically program cellular behavior. 2.Epigenetic changes in tumor cells are potentially reversible. 3.Epigenetic functions are heritable. 4.Epigenetics can turn a particular gene on as well as off. 5.Cancer drugs do not influence epigenetic function. •7. How will an improved understanding of the molecular genetics of a particular type of cancer contribute to personalized medicine? 1.Treatment can be targeted to the particular gene, gene product, or molecular pathway that triggers a cancer. 2.The genetic signature of a cancer can be used to predict prognosis. 3.Biomarkers can monitor the effect(s) of cancer treatment. 4.All of the above •8.Nurses must understand cancer genetics because 1.they make up the largest number of direct care providers. 2.there are insufficient genetic experts to translate cancer genetic information to patients and the public. 3.they are the case finders for cancer predisposition. 4.All of the above •9. Red flags that suggest inherited predisposition for cancer include all of the following EXCEPT 1.multifocal or bilateral disease. 2.early age of cancer onset, typically before age 50 years. 3.multiple, affected family members. 4.evidence for rapid metastasis among multiple individuals with cancer. 5.occurrence of similar cancers across multiple generations. •10. Cancer treatment is evolving and new drugs are being developed to target very specific gene functions and or cancer development pathways. Which of the following skills or competencies is most important for a nurse? 1.History taking and physical assessment skills 2.Initiation and participation in systems processes that enable continuous monitoring for and recording of adverse events 3.Collaboration with other providers to develop patient care guidelines for the management and prevention of unanticipated events 4.Patient education about the drug effects, interactions, and the need to report unexpected drug effects 5.All of the above 1. B; 2. C; 3. B; 4. C; 5. A; 6. E; 7. D; 8. D; 9. D; 10. E

Pretest for chapter 16

•1. Which of the following best describes the cause(s) of cancer? 1.A critical gene mutation 2.The accumulation of DNA mutations as well as changes in epigenetic processes 3.An inherited genetic condition 4.A complex, multistep process •2. Which of the following is NOT a hallmark capability of cancer according to Hanahan and Weinstein (2011)? 1.Ability to sustain chronic proliferation 2.Ability to evade growth suppressors 3.Ability to generate germ line mutations 4.Ability to resist cell death 5.Ability to activate invasion and metastasis •3. Which of the following best describes a proto oncogene? 1.A subset of tumor suppressor genes. 2.A gene that when mutated can become an oncogene. 3.A gene with a point mutation that is common in many cancers. 4.A gene that makes proteins that inhibit normal cell division. 5.A major cause of chronic myelogenous leukemia. •4. Which of the following best describes why viruses like Epstein Barr and hepatitis B can contribute to cancer development? 1.Infection with these viruses leads to clonal expansion of infected cells with loss of normal function. 2.Infection with these viruses can activate invasion and metastasis. 3.Viral DNA are inserted into cellular DNA during replication. •5. The development of drugs that targets angiogenesis are a promising new model for treating cancer. A.True B.False •6. Which of the following has NOT been described as an effect of epigenetics? 1.Epigenetics has the ability to chemically program cellular behavior. 2.Epigenetic changes in tumor cells are potentially reversible. 3.Epigenetic functions are heritable. 4.Epigenetics can turn a particular gene on as well as off. 5.Cancer drugs do not influence epigenetic function. •7. How will an improved understanding of the molecular genetics of a particular type of cancer contribute to personalized medicine? 1.Treatment can be targeted to the particular gene, gene product, or molecular pathway that triggers a cancer. 2.The genetic signature of a cancer can be used to predict prognosis. 3. Biomarkers can monitor the effect(s) of cancer treatment. 4.All of the above •8. Nurses must understand cancer genetics because 1.They make up the largest number of direct care providers. 2.There are insufficient genetic experts to translate cancer genetic information to patients and the public. 3.They are the case finders for cancer predisposition. 4.All of the above •9. Red flags that suggest inherited predisposition for cancer include all of the following EXCEPT 1.multifocal or bilateral disease. 2.early age of cancer onset, typically before age 50 years. 3.multiple affected family members. 4.evidence for rapid metastasis among multiple individuals with cancer. 5.occurrence of similar cancers across multiple generations. •10. Cancer treatment is evolving and new drugs are being developed to target very specific gene functions and or cancer development pathways. Which of the following skills or competencies is most important for a nurse? 1.History taking and physical assessment skills 2.Initiation and participation in systems processes that enable continuous monitoring for and recording of adverse events. 3.Collaboration with other providers to develop patient care guidelines for the management and prevention of unanticipated events. 4.Patient education about the drug effects, interactions, and the need to report unexpected drug effects. 5.All of the above 1. B; 2. C; 3. B; 4. C; 5. A; 6. E; 7. D; 8. D; 9. D; 10. E

Posttest for chapter 5

•1. Which of the following is a reliable risk factor for the development of aneuploidy? 1.Cigarette smoking 2.Maternal age 3.Paternal age 4.Smog •2. How many chromosomes would be found in a patient with tetrasomy? 1.44 2.46 3.48 4.50 •3. Aneuploidy has relevance for human health due to the potential to 1.be an inheritable condition. 2.be difficult to detect prenatally. 3.lead to congenital defects that result in spontaneous abortion. 4.lead to a loss or excess of gene production. •4. The addition of two chromosomes is referred to as 1.trisomy. 2.monosomy. 3.tetrasomy. 4.mosaicism. •5. Which of the following forms of aneuploidy is most likely to result in survival of the fetus? 1.Nullisomy 2.Trisomy 3.Tetrasomy 4.Tetrasomy 9p •6. Nondisjunction is most likely to occur during 1.Meiosis I. 2.Meiosis II. 3.mitosis. •7. Which of the following is a syndrome associated with sex chromosomal aneuploidy? 1.Down syndrome 2.Edwards syndrome 3.Klinefelter syndrome 4.Patau syndrome •8. Nullisomy is the 1.loss of one chromosome. 2.loss of two chromosomes. 3.addition of one chromosome. 4.addition of two chromosomes. •9. The most common form of trisomy encountered in clinical practice is most likely to be 1.Down syndrome 2.Edwards syndrome 3.Patau syndrome 4.Turner syndrome •10. The development of cancer could be considered a form of 1.nonrandom aneuploidy. 2.random aneuploidy. 3.parsimony. 4.tetrasomy. 1. B; 2. C; 3. D; 4. C; 5. B; 6. A; 7. C; 8. A; 9. A; 10. A

Posttest for chapter 18

•1. Which of the following suggest that genetic linkages are important in common diseases? 1.There is phenotypic variation within common diseases. 2.Prevalence of disease does not differ among racial or ethnic groups. 3.Family history is a strong risk factor. 4.No candidate genes have been identified. •2. GWAS are a form of 1.candidate gene studies. 2.association studies. 3.novel genetic studies. D. linkage analysis. •3. Candidate gene studies 1.are best suited to identifying novel genetic associations with a disease. 2.can only be conducted following GWAS. 3.test hypotheses about the involvement of specific genes in a disease. 4.can only be done in humans. •4. Having a sibling who suffered from an early heart attack increases the risk of heart attack by 1.Twofold. 2.Fourfold. 3.Tenfold. 4.The risk is only increased if one's parent had a heart attack also. •5. Monogenetic forms of common diseases are common than polygenetic forms. 1.less 2.more 3.equally •6. Current well-developed risk calculators for common diseases already incorporate genetic testing into risk calculations. A.True B.False •7. Epigenetic changes 1.may be influenced by environmental factors. 2.may directly influence disease occurrence and progression. 3.may reflect factors causing disease. 4.All of the above •8. Testing for genotype is most feasible in forms of common diseases. 1.monogenetic 2.polygenetic •9. In most cases, risk for common diseases is 1.inherited in a Mendellian pattern. 2.increased by genetic susceptibility. 3.not associated with environmental factors. 4.unpredictable. •10. Whole genome sequencing of individuals may enable 1.detection of rare genetic variants in individuals. 2.determination of epigenetic influences. 3.refinement in racial and ethnic groupings. 4.examination of the influences of environment on genetics. 1. C; 2. B; 3. C; 4. A; 5. A; 6. B; 7. D; 8. A; 9. B; 10. A

Punnett Squares Dominant Criteria for Autosomal dominant trait

•A dominant trait is expressed when only one copy (heterozygosity) of an autosomal allele is present. •Males and females transmit the trait with equal frequency. •A dominant trait does not skip generations. •If no one in a generation is affected, the transmission of the trait stops. •Affected individuals have a 50% chance of passing the gene to each of their children.

Punnett Squares Recessive Criteria for an autosomal recessive trait:

•A recessive trait is expressed when two copies (homozygosity) of an autosomal allele is present. •Individuals who are heterogyotes (having two different alleles of a gene) for the gene are carriers of that trait. •Children born to parents who are carriers of the gene (heterozygous) have a 25% chance of having the disease, a 25% chance of not having the disease and not being a carrier, and a 50% chance of being a carrier. •Males and females can be affected. •Affected males and females can transmit the disease if they live long enough to reproduce. •The trait can skip generations.

Consanguinity

•Consanguinity is the mating of individuals who are "blood" relatives. •This increases the likelihood that harmful recessive traits will be combined and passed on to children. •Genetic diversity is decreased in a population that practices consanguinity.

Posttest for chapter 2

•The public health core functions include three specific types of activities. Name them. •Which of the following are considered to be essential public health services? A.Monitor health status to identify community health problems. B.Inform, educate, and empower people about health issues. C.Diagnose and investigate health problems in a community. D.Develop policies and practices that support individual and community health efforts. E.Evaluate effectiveness, accessibility, and quality of personal and population-based health services. F.All of the above •The human genome contains approximately A.15,000 genes B.25,000 genes C.50,000 genes D.100,000 genes •Which of the following are determinants of health and illness? A.Genetic/genomic factors B.Environmental factors C.Behavioral factors D.All of the above E.A and B, above •Systems development/program planning, implementation, and evaluation could include which of the following? A.Collecting, analyzing, and summarizing data relevant to genetic/genomic health care issues or problems B.Understanding relevant local, state, and federal laws and regulations C.Identifying policy and/or legislative options D.Articulating the economic, ethical, legal, social, political, and administrative implications of policy decisions; e.g., legislative and executive options/actions E.Utilizing methods of monitoring and evaluating quality and effectiveness of health care systems and/or programs (quality assurance) F.All of the above • Diversity refers to differences that distinguish individuals and/or groups from one another. A.True B.False • When performing a nursing assessment, registered nurses should be able to elicit a minimum, three-generation family health history and also construct a pedigree from that information using standardized symbols and terminology. A.True B.False •Financial planning and systems management could include which of the following? A.Development and dissemination of budget information B.Managing problems and/or issues within budgetary constraints C.Creating, implementing, and analyzing program performance measures D.Writing and overseeing grant proposals and contracts E.Hiring, managing (including team building, scheduling, and conflict resolution) and evaluating personnel F.All of the above • Registered nurses need not recognize their own attitudes and values related to genetic and genomic services and information when providing care to clients. A.True B.False • Regardless of academic preparation, practice setting, role, or specialty, there are numerous opportunities for registered nurses to utilize genetics/genomics services and information to understand and promote health and well- being, lower morbidity and mortality, and prevent diseases and disability. A.True B.False 1. Assessment; Policy Development; and Assurance; 2. F; 3. B; 4. D; 5. F; 6. A; 7. A; 8. F; 9. B; 10. A

Criteria for an x linked dominant trait:

•X-linked dominant traits are rare. •These are characterized by disorders whose causative genes are carried on the X chromosome. •These are seen more often in males because they have only one copy of the gene. •These may be more severe or fatal in males. •These pass from father to all daughters but not to sons.

Criteria for an x linked recessive trait:

•X-linked recessive traits are almost always expressed in the male. •An affected father and a mother who is affected or is a carrier can pass the trait to a daughter. •Females would need two copies of the gene (homozygous) to express the X-linked trait. •The trait is passes from a heterozygous or homozygous mother to son