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Healthcare Ethics and Genetics explores the complex ethical issues arising from advances in genetic science and their application in healthcare settings. The course examines topics such as genetic testing, gene therapy, personalized medicine, reproductive technologies, and the use of genetic information in clinical practice and research. Students will analyze real-world dilemmas involving patient autonomy, privacy, discrimination, and informed consent, while considering the perspectives of patients, healthcare professionals, and society. Through case studies and ethical frameworks, the course encourages critical thinking about how genetic innovations intersect with moral values, legal standards, and cultural beliefs in the provision of equitable and responsible healthcare.
Recommended Textbook
Genetics and Genomics in Nursing and Health Care 2nd Edition by Theresa A. Beery
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Q1) Which condition or statement exemplifies the concept of genomics rather than genetics?
A)The gene for insulin is located on chromosome 11 in all people.
B)Expression of any single gene is dependent on inheriting two alleles.
C)Sex-linked recessive disorders affect males more often than females.
D)One allele for each gene is inherited from the mother, and one is inherited from the father.
Answer: A
Q2) Which of these complementary base pairs form the strongest or "tightest" association?
A)Adenine and thymine
B)Cytosine and guanine
C)Guanine and thymine
D)Cytosine and adenine
Answer: B
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Q1) What is the difference between DNA transcription for DNA synthesis and DNA transcription for protein synthesis?
A)Transcription for DNA synthesis is rapidly followed by the process of translation.
B)Transcription for protein synthesis has "greater fidelity" than does transcription for DNA synthesis.
C)Transcription for protein synthesis occurs only in cells undergoing mitosis, and transcription for DNA synthesis occurs in both dividing and nondividing cells.
D)Transcription for DNA synthesis occurs with both the "sense" and the "antisense" strands, while transcription for protein synthesis occurs with only the "antisense" strand.
Answer: D
Q2) How does the process of polyadenylation affect protein synthesis?
A)Binding to the antisense DNA strand to prevent inappropriate transcription
B)Promoting attachment of ribosomes to the correct end of messenger RNA
C)Linking the exons into the mature messenger RNA
D)Signaling the termination of mRNA translation
Answer: D
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Q1) Meiosis II of oocytes is completed at which developmental period?
A)At the ninth prenatal week
B)During puberty
C)At ovulation
D)At fertilization
Answer: A
Q2) What would be the expected response to a skin injury if the involved tissue had lost the normal cell characteristic of contact inhibition?
A)Failure of the wound to close
B)Excessive growth of replacement tissue
C)Replacement with scar tissue rather than skin
D)Displacement of skin cells into other body tissues
Answer: B
Q3) Which cell feature is common to normal human differentiated cells and to early embryonic human cells?
A)Growth by hypertrophy
B)Contact inhibition
C)Tight adhesion
D)Euploidy
Answer: D
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Q1) Which situation most closely represents an example of "regression to the mean"?
A)Two hearing-impaired parents produce a child who has normal hearing.
B)A 40-year-old man whose father developed type 2 diabetes mellitus at age 50 is diagnosed with the disorder.
C)The three children of a mother who has an intelligence quotient (IQ) of 170 all have IQs in the 110 to 120 range.
D)A child whose biologic parents are thin is adopted by a family whose members are obese and eventually becomes overweight.
Q2) What is the expected expression of a monogenic trait that has its locus on the Y chromosome?
A)Females never inherit the trait.
B)Females inheriting the trait will be carriers.
C)Males inherit the trait in a dominant pattern of expression; females inherit the trait in a recessive pattern of expression.
D)Females inherit the trait in a dominant pattern of expression; males inherit the trait in a recessive pattern of expression.
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Q1) In fragile X syndrome, only noncoding regions within the gene for a protein that directs and maintains brain development are heavily methylated, resulting indecreasedcognitive ability and behavioral problems. What is the most likely mechanism of this abnormal expression?
A)Increased microRNA molecules reducing the synthesis of the gene product
B)Failure of the methylated regions to undergo translation
C)Suppression of the "splicing out" action for introns
D)Suppression of promoter function
Q2) What part of a chromosome's DNA is altered by histone modification?
A)Complementary base pairing
B)Attachment of phosphate groups
C)Development of telomeric "caps"
D)The degree of tension in helical tightness
Q3) Which statement about the microbiome is true?
A)The microbiome does not undergo further changes after development is complete.
B)With aging, its influence on health is reduced.
C)The microbiome is necessary for good health.
D)Identical twins have identical microbiomes.
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Q1) Why does an embryo with a balanced translocation have the same chance for normal development that an embryo with a normal karyotype has?
A)The translocation stimulates DNA repair mechanisms to correct the problem before commitment occurs.
B)The embryo's somatic cells are unaffected, expressing a normal karyotype; only germline cells express the translocation.
C)Although the location of the genetic material is abnormal with a balanced translocation, there are no missing or extra alleles.
D)When a zygote with a balanced translocation reaches the embryo stage without a spontaneous abortion, the risk for abnormal development decreases.
Q2) What is the risk for a woman who had a retinoblastoma in early childhood as a result of a partial deletion on one number 13 chromosome to have a child who also develops the disorder?
A)100%
B)50%
C)25%
D)0%
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Q1) Which of the following definitions accurately represents the concept of expansion?
A)The phenotype of a genetic condition is expressed with greater severity and at earlier ages with succeeding generations.
B)The number of trinucleotide repeat sequences within the noncoding region of a specific gene allele is increased.
C)The number of copies of a specific gene allele is amplified on one chromosome of a homologous pair.
D)A specific gene allele has at least two copies of every exon within the gene.
Q2) Which type of problem results from mutations in mitochondrial DNA (mtDNA)?
A)Reduced cellular energy
B)Balanced translocations
C)Excessive "crossing over"
D)Single-nucleotide polymorphisms
Q3) Which single physical feature is most often associated with a 47,XXX karyotype?
A)Infertility
B)Large breasts
C)Female-pattern baldness
D)Height greater than siblings
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Q1) Which observations in a pedigree indicate a probable autosomal-dominant (AD) trait transmission?
A)Affected males and females appear in every generation.
B)The pedigree shows only one affected individual.
C)The trait appears to "skip" generations.
D)Only males are affected.
Q2) Why is a legend necessary when constructing a pedigree that includes a health history?
A)Gender-altering surgeries require either the drawing of both male and female symbols for the same person or the use of a diamond instead of a circle or square.
B)When a pedigree includes more than three generations, the relationships of members in older (more remote) generations are less clear and must be explained.
C)The gender of individuals lost in the first trimester of pregnancy cannot be established. D)Health problems do not have standard symbols.
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Q1) Which anomaly constitutes clinodactyly?
A)An extra toe on one foot
B)A laterally curved fifth finger
C)Complete absence of fingers and toes
D)Fusion of two fingers on the right hand
Q2) What is the best action to take when you observe the presence of a smooth philtrum on a young child?
A)Obtain a genetics referral as soon as possible.
B)Assess for the presence of any other dysmorphic features.
C)Document the finding in the medical record as the only action.
D)Gently explain to the parents that this finding is cause for concern.
Q3) Which ear location is considered "low set"?
A)The earlobes are aligned with the highest point of the upper lip.
B)The earlobes are aligned with the highest point of the bottom lip.
C)The roots of the ears are aligned with the outer canthus of the eyes.
D)The roots of the ears are aligned an inch below the outer canthus of the eyes.
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Q1) How does intravenous enzyme-replacement therapy for Gaucher disease reduce the organ storage of glucosylceramide?
A)The enzyme increases the destruction of glucosamine-filled macrophages.
B)The drug acts as a cofactor, increasing the activity of the mutated enzyme.
C)The drug increases production of all blood cells in the bone marrow, including white blood cells, which have not stored glucosylceramide.
D)The enzyme is absorbed through the plasma membranes of affected cells and converts the stored glucosylceramide into its constituent molecules.
Q2) Which dietary alterations are necessary to help reduce the complications of phenylketonuria (PKU)?
A)Increased intake of phenylalanine; decreased intake of tyrosine
B)Increased intake of phenylalanine; increased intake of tyrosine
C)Decreased intake of phenylalanine; decreased intake of tyrosine
D)Decreased intake of phenylalanine; increased intake of tyrosine
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Q1) Which type of testing is most commonly used to diagnose classic hemophilia?
A)Hematocrit and hemoglobin levels
B)X-chromosome inactivation
C)Genetic mutation analysis
D)Factor VIII levels
Q2) For individuals who have increased genetic susceptibility for type 1 diabetes, what is the most common environmental trigger for disease expression?
A)Obesity and a sedentary lifestyle
B)Exposure to radiation
C)Premature birth
D)Viral infection
Q3) What is the most likely explanation for the variability in expression of disease severity for cystic fibrosis?
A)The ethnicity of the patient
B)The specific CFTR gene mutation inherited
C)The presence of other nongenetic lung or pancreatic problems
D)The length of trinucleotide repeat sequences in the first exon of the CFTR gene
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Q1) Multiple sclerosis is more common in people from what geographic area?
A)Western Africa
B)Southeast Asia
C)Mediterranean region
D)Northern Europe
Q2) What do each of the genes involved in maturity-onset diabetes of the young (MODY) have in common?
A)They are all located on the long arm of chromosome 6.
B)They each play a role in the metabolism of glucose, or insulin action and release.
C)Although they are of different sizes, they all contain the same exon and intron sequences.
D)The genes that cause MODY are expressed only in the young and suppressed during adulthood.
Q3) Which relatively common adult-onset disorder or health problem is the result of a mutation in a single gene?
A)Type 2 diabetes
B)Multiple sclerosis
C)Hereditary hemochromatosis
D)Age-related macular degeneration
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Q1) What do the known monogenic disorders that result in the expression of hypertension have in common?
A)An error in the ability of vascular smooth muscle to contract
B)An error in the ability of vascular smooth muscle to relax
C)Excessive kidney reabsorption of sodium
D)Excessive kidney excretion of potassium
Q2) Which ethnic group is at higher risk for stroke caused by factor V Leiden?
A)Ashkenazi Jews
B)African Americans
C)Caucasians from Northern Europe
D)French Canadians from the Quebec area
Q3) How does factor V Leiden increase the likelihood of stroke?
A)Factor V Leiden activates protein C.
B)Factor V Leiden increases thrombin formation.
C)People affected with factor V Leiden have increased blood viscosity.
D)Affected people have a type of factor V that is resistant to activated protein C.
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Q1) A 22-year-old college student tells his nurse practitioner in the student health center that his mother died of colon cancer at age 32. He asks if this couldhave an impact on his health. What is your best response?
A)"Yes, you need to have yearly stool tests for occult blood."
B)"Yes, it would be good for you to talk with a genetics counselor."
C)"No, because colon cancer is considered a type of sporadic cancer."
D)"No, your risk would only be increased if your father had the colon cancer."
Q2) Which statement about a "germline" mutation in either a cancer suppressor gene or an oncogene is accurate?
A)Cancer risk is increased only in sex hormone-sensitive tissues.
B)The gene now has expressive potential but not penetrant potential.
C)Cancer risk increases, but additional mutations are required for cancer development.
D)A person inheriting such a mutation has a 100% risk for developing a specific cancer type.
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Q1) Which statement regarding behavioral genetics is accurate?
A)Genes and gene products have been discovered that directly control behavior.
B)A genetic predisposition toward a specific behavior can be modified by altering environmental influences.
C)The genotypes and phenotypes of behavioral problems or deviations follow Mendelian autosomal-recessive inheritance patterns.
D)The genetic susceptibility to or predisposition toward a behavioral disorder requires the trigger of an infectious disease for expression.
Q2) Why are single-nucleotide polymorphisms (SNPs), which have been associated with schizophrenia and bipolar disorder, currently not used to diagnose either of these disorders?
A)The changes in gene activity caused by the SNPs is not sufficient to cause disease expression.
B)SNPs are associated with nicotine dependence but not with schizophrenia or bipolar disorder.
C)The SNPs are too small to result in either a frameshift mutation or a point mutation.
D)These SNP-induced gene changes cannot be altered by pharmacologic therapy.
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Q1) Genetic testing of an asymptomatic woman whose sister is positive for the mutation that is responsible for an autosomal-dominant disorder that has a 70% penetrance ratewould fall into which testing category?
A)Diagnostic predisposition
B)Diagnostic presymptomatic
C)Predictive predisposition
D)Predictive presymptomatic
Q2) Which genetic-based disorders can be initially identified by the most common types of newborn blood screening? Select all that apply.
A)Congenital hypothyroidism
B)Cystic fibrosis
C)Galactosemia
D)Hereditary hemochromatosis
E)Phenylketonuria
F)Sickle cell disease
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Q1) What is the most likely outcome for a patient with glucose-6-phosphate dehydrogenase (G6PD) deficiency when he or she takes aspirin or an antimalarial drug?
A)Rapid elimination of the drug with no benefit
B)Liver damage or failure
C)Hemolytic anemia
D)Fluid retention
Q2) A patient with a fractured elbow in the emergency department states that he needs morphine for pain rather than codeine because the last time he had a painfulinjury,codeine was not effective in managing his pain. What is the nurse's best response or action?
A)Ask the patient how much alcohol he ingests daily.
B)Communicate this information to the admitting physician.
C)Alert the health-care provider that this patient is "drug-seeking."
D)Reassure the patient that he will receive progressively higher dosages of codeine until his pain is controlled.
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Q1) Which genetics professional has the defined responsibility for overseeing the work in a cytogenetic laboratory?
A)Clinical laboratory geneticist
B)Genetic laboratory technician
C)Cytogenetics technician
D)Medical geneticist
Q2) Awoman's family history for breast cancer includes two paternal aunts who developed breast cancer before age 45. Which genetics professional would be most appropriatefor assistance in helping this patient understand the health risk posed by this family history?
A)Medical geneticist
B)Genetic counselor
C)Clinical geneticist
D)Clinical laboratory geneticist
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Q1) Sometimes health-care providers with information about family members' genetic risk are confronted by conflicting ethical principles. Which principle is leastlikelytoconflict with the health-care provider's "duty to warn"?
A)Autonomy
B)Beneficence
C)Right to privacy
D)Genetic discrimination
Q2) Ascientist is working to develop a genetic test that will screen embryos so that only those producing tall children with beautiful features will be implanted.Whatarea of genetic work or studies does this example represent?
A)Eugenics
B)Cybernetics
C)Cytogenetics
D)Genetic imprinting
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Q1) What criteria must a population meet in order to stay in Hardy-Weinberg equilibrium?
A)Random mating, no migration, and no mutation
B)Founding commonalities and no haplotype differences
C)Assortative mating, migration, and frequent mutation
D)Limited procreation, no diet change
Q2) The Black Death was a pandemic spreading across Europe between 1348 and 1350. Estimates state that 30% to 60% of Europe's population died from the Black Death.If welook at Europe's population before the pandemic and compare it to the population several generations later, what are we likely to find?
A)More genetic diversity in later generations
B)Less genetic diversity in later generations
C)Less genetic diversity in earlier generations
D)The same degree of genetic diversity in later as in earlier generations
Q3) Which term refers to a random change in allele frequencies, not based on natural selection?
A)Population bottleneck
B)Genetic drift
C)Founder effect
D)Migration effect
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