Genomics in Health Care Test Questions
Course Introduction
This course explores the fundamental principles and practical applications of genomics in modern health care. Students will examine how genomic information is generated, interpreted, and integrated into clinical practice, including the roles of genetic testing, personalized medicine, and disease prevention. The course also addresses the ethical, legal, and social implications of genomic data usage in patient care. Through a combination of lectures, case studies, and hands-on activities, students will gain the knowledge and skills necessary to understand and apply genomic concepts in diverse health care settings.
Recommended Textbook
Genetics and Genomics in Nursing and Health Care 2nd Edition by Theresa A. Beery
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20 Chapters
432 Verified Questions
432 Flashcards
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Page 2
Chapter 1: DNA Structure and Function
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25 Verified Questions
25 Flashcards
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Sample Questions
Q1) What are the expected expressed blood types of children born to a mother who is B/O for blood type and a father who is A/B for blood type?
A)25% A, 25% B, 25% O, 25% AB
B)25% A, 50% B, 0% O, 25% AB
C)50% A, 25% B, 25% O, 0% AB
D)50% A, 25% B, 0% O, 25% AB
Answer: B
Q2) At what phase of the cell cycle are chromosomes visible as separate structures?
A)G<sub>1</sub>
B)G<sub>2</sub>
C)S
D)M
Answer: D
Q3) Which genetic process would be disrupted in one cell if it could not form chromosomes?
A)DNA replication
B)Gene-directed protein synthesis
C)Delivery of genetic information to new cells
D)Conversion of a nucleoside into a nucleotide
Answer: C
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Chapter 2: Protein Synthesis
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31 Verified Questions
31 Flashcards
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Sample Questions
Q1) What is the expected outcome when a person (twin A) experiences a large deletion of DNA in one of his noncoding regions and his monozygotic twin (twin B) doesnot?
A)DNA identification of each twin will be more specific.
B)Only their somatic cells will remain identical at all loci.
C)Only their germline cells will remain identical at all loci.
D)They will now be dizygotic twins instead of monozygotic twins.
Answer: A
Q2) How does replacement of thymine with uracil in messenger RNA help in the process of protein synthesis?
A)Allowing messenger RNA to leave the nucleus
B)Ensuring only the "antisense" strand of DNA is transcribed
C)Determining the placement of the "start" signal for translation
D)Promoting posttranslational modification for conversion to an active protein
Answer: A
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Chapter 3: Genetic Influence on Cell Division, Differentiation,
and
Gametogenesis
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32 Verified Questions
32 Flashcards
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Sample Questions
Q1) Which normal cell characteristic is represented by the production of insulin in the beta cells of the pancreas?
A)Performance of a differentiated function
B)Ability to undergo apoptosis on schedule
C)Tight regulation of cell division
D)Conservation of energy
Answer: A
Q2) How is apoptosis related to physiologic homeostasis?
A)The process prevents germline mutations.
B)The efficiency of organ/tissue functions is increased.
C)Replacement with scar tissue occurs more rapidly after cell damage.
D)Cells that are able to undergo apoptosis bypass restriction point controls for mitosis.
Answer: B
Q3) Normal cells spend most of their life spans in which phase?
A)G<sub>0</sub>
B)G<sub>1</sub>
C)S
D)M
Answer: A
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Chapter 4: Patterns of Inheritance
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36 Verified Questions
36 Flashcards
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Sample Questions
Q1) Which common health problem has the highest heritability estimate?
A)Hypertension
B)Peptic ulcer disease
C)Congenital heart disease
D)Schizophrenic behavior
Q2) What can be inferred about a genetic disorder that, when it occurs in monozygotic twins, affects one twin 80% of the time and affects both twins only 20% of the time?
A)Expression of homologous genes is influenced by the gender of the parent who contributed them.
B)Nongenetic factors can influence the expression of identical alleles.
C)The mutation occurred in a somatic cell rather than a germ cell.
D)Mutation repair is incompletely penetrant.
Q3) Which genetic disorder has both an autosomal-dominant and an autosomal-recessive form?
A)Syndactyly
B)Phenylketonuria
C)Long QT syndrome
D)Retinitis pigmentosa
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Chapter 5: Epigenetic Influences on Gene Expression
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11 Verified Questions
11 Flashcards
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Sample Questions
Q1) What would be the expected result when the area around an oncogene is hypomethylated?
A)Cell division increases; cancer risk increases.
B)Cell division increases; cancer risk decreases.
C)Cell division decreases; cancer risk decreases.
D)Cell division decreases; cancer risk increases.
Q2) How does histone modification alter gene expression?
A)Modified histones result in increased DNA methylation, which increases the transcription of genes in that area.
B)In areas where histones are modified, the DNA is more tightly wound, and genes are not transcribed.
C)Histone modification results in an increase in microRNA production, which inhibits gene expression by preventing translation.
D)Histone modification results in an increase in microRNA production, which promotes gene expression by enhancing translation.
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7
Chapter 6: Autosomal Inheritance and Disorders
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Sample Questions
Q1) Which statement regarding partial chromosomal deletions or duplications reflects the cause of manifestations?
A)They result in either a triple dose of some gene alleles or a single dose of some alleles.
B)They usually result in fewer or milder manifestations than do trisomies or monosomies.
C)The manifestations are unpredictable because they commonly vary depending on parental origin.
D)General prenatal chromosomal analysis has resulted in fewer children being born with these problems.
Q2) What is the risk for a man who has Down syndrome to produce a child with Down syndrome with a woman who has a normal karyotype?
A)100%
B)50%
C)5%
D)0%
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8
Chapter 7: Sex Chromosome and Mitochondrial Inheritance and Disorders
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20 Verified Questions
20 Flashcards
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Sample Questions
Q1) Which of the following mechanisms in fragile X syndrome (FXS) leads to expression of the disorder?
A)Trinucleotide repeat sequences interspersed with the exons of the FMR1 gene, resulting in the production of an abnormal protein
B)Trinucleotide repeat sequences causing methylation of the FMR1 gene, thus silencing its expression
C)Increased production of microRNA molecules that interfere with the transcription of the FMR1 gene
D)Increased production of microRNA molecules that interfere with the translation of the FMR1 gene
Q2) Which health screening activity is most important for girls and women with Turner syndrome?
A)Mammography
B)Test for osteoarthritis
C)Blood pressure screening
D)Pulmonary function testing
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Chapter 8: Family History and Pedigree Construction
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Sample Questions
Q1) Marjory tells a nurse that she has three aunts with cancer. The two on her father's side were diagnosed with breast and ovarian cancers at ages 42 and 36. Shealsohasone aunt on her mother's side who was diagnosed with breast cancer at age 70. Marjory asks if she should have genetic testing. What should the nurse tell her?
A)"Your family history indicates a high risk, and you should definitely have genetic testing."
B)"Because no men in your family are affected, it is not inherited cancer, so you don't need mammograms or any special screening practices."
C)"Because your aunts were older when they got breast cancer, it was probably sporadic, and you should just have regular mammograms like everyone else."
D)"Your family history may indicate an increased risk for breast cancer, and a genetic counselor could help determine whether you could benefit from genetic testing."
Q2) Why is a pedigree considered an "unstable" product?
A)The person collecting the information may not be a genetics professional.
B)Some family members may have lied about their reproductive history.
C)The memories of older family members may be inaccurate.
D)The health of living family members continues to evolve.
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Chapter 9: Congenital Anomalies, Basic Dysmorphology, and
Genetic Assessment
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Sample Questions
Q1) What is the significance of the presence of frontal bossing in one parent and two children within a family as the only physical or developmental abnormality?
A)It is an inherited normal variation of an anatomical feature.
B)All three family members should be referred to a geneticist for a formal evaluation.
C)The family is most likely descended from Neanderthal ancestors rather than from Cro-Magnon ancestors.
D)This physical anatomical malformation is a type of deformation caused by prenatal compression of soft skull areas.
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.
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Chapter 10: Enzyme and Collagen Disorders
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30 Verified Questions
30 Flashcards
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Sample Questions
Q1) Which assessment finding in a 6-month-old child suggests a possible lysosomal storage disease?
A)Enlarged, palpable liver
B)Weight in the 95th percentile
C)Does not yet say "mama" or "dada"
D)Skin tone appears slightly lighter than that of either parent
Q2) Which substance fails to form normally in individuals with Marfan syndrome?
A)Elastin
B)Glycogen
C)Collagen
D)Fibrillin
Q3) What is the expected outcome of pregnancy for women with phenylketonuria (PKU) when the blood levels of phenylalanine are high throughout the pregnancy?
A)Most births are post-mature.
B)There is a high incidence of infertility.
C)The infant develops PKU.
D)There is a high incidence of cardiovascular birth defects.
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12
Chapter 11: Common Childhood-Onset Genetic Disorders
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34 Verified Questions
34 Flashcards
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Sample Questions
Q1) Which statement about achondroplasia is true?
A)Females are affected twice as often as males.
B)The affected infant's appearance at birth is normal.
C)The protein impaired by the mutation is the receptor for fibroblast growth factor.
D)Transmission is less of a problem among males with achondroplasia because they are usually infertile.
Q2) Which type of testing is most commonly used to diagnose cystic fibrosis (CF)?
A)Mucus protein electrophoresis
B)Genetic mutation analysis
C)Sweat chloride analysis
D)Stool analysis
Q3) A son with achondroplasia is born to parents with no family history of the disease. What is the most likely explanation for the son's disorder?
A)The son is not biologically related to the mother.
B)The son is not biologically related to the father.
C)The gamete of one parent had a spontaneous mutation.
D)The son's DNA underwent a spontaneous mutation during the second trimester of pregnancy.
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Page 13
Chapter 12: Common Adult-Onset Disorders
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25 Verified Questions
25 Flashcards
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Sample Questions
Q1) What can be interpreted about type 2 diabetes mellitus in monozygotic twins when it affects only one twin 70% of the time and affects both twins 30% of the time?
A)The trait is recessive.
B)Mutation repair is incompletely penetrant.
C)Nongenetic factors can influence expression.
D)Homologous genes can undergo chromatid exchanges.
Q2) Which factor is consistent with multifactorial (complex) genetic disease?
A)Expression of the trait often involves mutations in several genes.
B)Monozygotic (identical) twin concordance is 100%.
C)Genotype consistently predicts phenotype.
D)It tends to be autosomal dominant.
Q3) Your patient's family comes from Ireland. Both her parents are carriers of gene mutations causing hereditary hemochromatosis (HFE-HHC). What is your patient'srisk of having the clinical signs of this disorder?
A)HHC is an autosomal-recessive condition; the risk is 25%.
B)HHC has incomplete penetrance; we cannot accurately predict the clinical risk.
C)HHC is a complex trait; we cannot accurately predict the clinical risk.
D)HHC is an autosomal-dominant trait; the risk is 50%.
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14
Chapter 13: Cardiovascular Disorders
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23 Verified Questions
23 Flashcards
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Sample Questions
Q1) Your patient has been diagnosed with long QT syndrome (LQTS). What do you know about this heart rhythm problem?
A)LQTS is a congenital genetic disease that will be evident during the first 2 years of life.
B)It is relatively rare and often caused by private mutations.
C)LQTS is treated in the same way, no matter the cause.
D)Deafness always accompanies LQTS.
Q2) What is true about the gene variants that cause hypertension?
A)A few genes with major contributions have been identified.
B)Genes that code for proteins in the RAAS pathways are often involved.
C)Hypertension is always secondary to another genetic disease.
D)Polymorphisms have little or no impact on the hypertensive phenotype.
Q3) The process in which gene variants interact with other gene variants to cause disease can be described by what word/phrase?
A)Phenotype variation
B)Reduced penetrance
C)Epistasis
D)Variable expressivity
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Chapter 14: The Genetics of Cancer
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30 Verified Questions
30 Flashcards
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Sample Questions
Q1) Which characteristic(s) is/are associated with an inherited predisposition for a cancer type?
A)Cancers tend to appear at an earlier age than do "sporadic" cancers.
B)These cancers are not picked up by routine cancer screening methods.
C)The carcinogenesis stage of "promotion" is not required for cancer development.
D)They are passed on only to the children of the same gender as the parent with the predisposition.
Q2) Which feature is associated exclusively with sporadic cancer?
A)The cause is unknown.
B)It usually affects both bilateral organs.
C)It occurs at the same frequency within a kindred as in the general population.
D)It is more likely to occur in younger people with few environmental risks than in older people.
Q3) What percentage of common cancers appears to be hereditary?
A)1% to 3%
B)5% to 15%
C)20% to 25%
D)About 35%
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Chapter 15: Genetic Contributions to Psychiatric and Behavioral Disorders
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15 Verified Questions
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Sample Questions
Q1) Why is direct-to-consumer marketing of diagnostic tests for mental illness and behavioral problems a dangerous practice?
A)Because the tests are expensive and not ordered by a health-care provider, they are not covered by insurance.
B)The tests are not predictive of which psychiatric medications are most likely to be beneficial to a specific individual.
C)People using such tests may not receive professional counseling for interpretation of results and accurate risk assessment.
D)These tests are often misused by employers to support the dismissal of employees who express opinions that are different from those of the company.
Q2) Which assessment finding in a 3-year-old child increases the suspicion for a possible diagnosis of autism spectrum disorder?
A)Language skills are delayed.
B)The child is very near-sighted.
C)Height is below the 5th percentile.
D)The child does not sit still during the assessment interview.
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17
Chapter 16: Genetic and Genomic Testing
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Sample Questions
Q1) Under which condition can preimplantation genetic testing be performed?
A)During in vitro fertilization
B)Between 4 to 6 weeks' gestation
C)When paternity is unknown
D)When an ultrasound indicates the fetus has a structural abnormality
Q2) 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
Q3) Which tissue is most likely to provide an adequate DNA sample for genetic testing?
A)Distal ends of hair shafts
B)Mature red blood cells
C)Nasal epithelial cells
D)A mummy's tooth
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18
Chapter 17: Assessing Genomic Variation in Drug Response
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Sample Questions
Q1) Which statement about agonist and antagonist drugs is true?
A)Both drugs types must interact with receptors to produce their intended responses.
B)The primary target tissues for these types of drugs are invading bacteria and viruses.
C)Antagonists drugs produce only intended responses, and agonist drugs produce both intended responses and side effects.
D)These types of drugs are less likely to cause allergic responses than drugs that are neither agonists nor antagonists.
Q2) Which of the following is a goal of pharmacogenetics?
A)Producing "blockbuster drugs" that will work equally well for everyone
B)Bringing down the cost of pharmaceutical manufacturing
C)Developing drugs that will treat very rare diseases
D)Reducing adverse reactions
Q3) Which processes of drug response are most subject to genetic variation?
A)Drug dissolution in body fluids and drug binding to plasma proteins
B)Rates of drug movement into and through the gastrointestinal tract
C)Drug activation or deactivation and duration of drug actions
D)Drug binding with receptors and drug blocking of receptors
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Page 19
Chapter 18: Health Professionals and Genomic Care
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Sample Questions
Q1) Why do genetic counseling programs include extensive courses on laboratory methods in genetics?
A)So that the certified genetics counselor can serve as a backup genetics technician in small laboratories
B)So that the certified genetics counselor can perform standard karyotyping on routine blood specimens
C)So that the certified genetics counselor can help patients understand testing procedures and results
D)So that the certified genetics counselor is able to draw blood proficiently and safely
Q2) The patient who has been found to have a mutation in a gene allele that greatly increases her risk for a serious health problem has asked a generalist nurse tobe present when she discloses this information to her family. What is the nurse's role in this situation?
A)Primary health-care provider
B)Genetic counselor
C)Patient advocate
D)Patient support
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Chapter
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Sample Questions
Q1) Your patient, Maggie, insists that her mother have genetic testing to determine if her breast cancer is connected to a mutation in the BRCA1/2 genes. Maggie isconcerned about her own risk for getting breast cancer and that of her children, but Maggie's mom does not want to be tested. What ethical principle is one of several that must be considered in evaluating this case?
A)Maggie's "autonomy"
B)Maggie's mother's "right to know"
C)The nurse's "duty to warn"
D)Maggie's mother's "right to privacy"
Q2) Preimplantation genetic diagnosis provides parents with which options?
A)The ability to screen normally fertilized embryos for genetic traits after the first trimester
B)The ability to select embryos for implantation that test negative for a familial disease mutation
C)The opportunity to determine how many children they will conceive
D)The ability to guarantee that they will have a healthy baby
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21
Chapter 20: Genetic and Genomic Variation
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Sample Questions
Q1) What pieces of genetic information tend to be passed down from generation to generation with the least variation?
A)Mitochondrial DNA
B)Nuclear DNA
C)Ribosomal DNA
D)Histone proteins
Q2) Which statement regarding genetic diversity is most accurate?
A)Larger genes are more likely to display diversity than small genes.
B)Genetic diversity is significant only when a population is isolated.
C)Genetic disorders are more common in populations that have greater genetic diversity.
D)Population bottlenecks result in loss of alleles that provide minimal selection advantage.
Q3) Which practice is most likely to result in a change in the Hardy-Weinberg equilibrium of a population or geographic area?
A)Random mating from within the established population
B)Geographic isolation of the established population
C)Assimilation of immigrants into the existing population
D)Preponderance of autosomal-dominant traits in the existing population
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Page 22