Translational Genomics in Healthcare Practice Exam
Course Introduction
Translational Genomics in Healthcare explores the application of genomic discoveries and technologies to clinical practice, bridging the gap between laboratory research and patient care. This course covers foundational principles in genomics, high-throughput sequencing, and bioinformatics, emphasizing how genetic and genomic data inform disease diagnosis, risk assessment, and personalized treatment strategies. Students will examine ethical, legal, and social implications, as well as advances in precision medicine, genetic testing, and gene therapies. Through case studies and discussions, learners gain insights into current challenges and future directions in integrating genomics into routine healthcare, preparing them to contribute to interdisciplinary teams at the forefront of modern medicine.
Recommended Textbook
Genetics and Genomics in Nursing and Health Care 2nd Edition by Theresa A. Beery
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432 Verified Questions
432 Flashcards
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Chapter 1: DNA Structure and Function
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Sample Questions
Q1) 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
Q2) How does the DNA enzyme topoisomerase contribute to DNA replication?
A)Unwinds the double helix and separates the double-stranded DNA
B)Creates a "nick" in the DNA supercoils, allowing them to straighten before replication
C)Initiates DNA synthesis in multiple sites down the strand, making the process more efficient
D)Connects and links the individual pieces of newly synthesized DNA to form a single strand
Answer: B
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3
Chapter 2: Protein Synthesis
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Sample Questions
Q1) Which process would be directly inhibited by a lack of conversion of thymine to uracil?
A)Translation
B)Transcription
C)MicroRNA silencing
D)Posttranscriptional modification
Answer: A
Q2) Which feature or characteristic is most critical for protein function or activity?
A)The number of amino acids
B)The sequence of amino acids
C)Deletion of all active exons
D)Transcription occurring after translation
Answer: B
Q3) How does a "codon" participate in protein synthesis?
A)Carrying amino acid for peptide bond attachment
B)Ensuring that ribosomal RNA is securely wrapped around the mature mRNA
C)Preventing microRNA from binding to mRNA and prematurely degrading it
D)Indicating which amino acid is to be placed within the growing protein chain
Answer: D
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Chapter 3: Genetic Influence on Cell Division, Differentiation,
and
Gametogenesis
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Sample Questions
Q1) What is the expected result when two homologous chromosomes fail to separate during meiosis I of spermatogenesis?
A)Fertilization of this gamete may result in a zygote that is 48, XXYY.
B)One gamete will have two of these chromosomes, and one will have neither of these chromosomes.
C)The risk for development of polygenic disorders is increased with fertilization of the polar body associated with this mature gamete.
D)Increased genetic diversity is possible with fertilization of any of these four gametes because of an increased number of possible gene alleles.
Answer: B
Q2) What is the consequence of synapsis and crossing over?
A)Pure segregation of alleles along the metaphase plate
B)Tetraploidy, in which there are four copies of each chromatid
C)Diploidy of chromosome number and haploidy for DNA content
D)Random recombination of genetic material between paternal and maternal chromatids
Answer: D
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Page 5
Chapter 4: Patterns of Inheritance
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Q1) Which statement or factor is a criterion for autosomal-recessive transmission of single-gene traits?
A)About 25% of the members of a large kindred with an autosomal-recessive trait will express the trait.
B)There is no carrier status; if the allele for the trait is present, it is expressed, although the degree of expression can be variable.
C)Individuals who are heterozygous for an autosomal-recessive trait have minimal risk for transmitting the allele to their offspring.
D)The degree of expression of an autosomal-recessive trait or disorder in a homozygous individual is directly related to the penetrance of the trait.
Q2) Which factor allows inheritance patterns for a specific trait or health problem to be traced from one family generation to another?
A)Pleiotropy
B)Allele segregation
C)Regression to the mean
D)Gene-environment interaction
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Chapter 5: Epigenetic Influences on Gene Expression
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Q1) 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.
Q2) How is alcohol consumption thought to increase methylation in cancer suppressor genes to increase the risk for head and neck cancer?
A)Preventing DNA repair
B)Enhancing cell division
C)Acting as a methyl donor
D)Activating select oncogenes
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Chapter 6: Autosomal Inheritance and Disorders
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Sample Questions
Q1) 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%
Q2) Which reproductive consequence is possible for a man who has a 13;15 Robertsonian translocation when his wife has a normal karyotype?
A)He is unlikely to ever impregnate his wife.
B)Because his wife has a normal karyotype, there are no reproductive consequences.
C)He has an increased risk for having a child born with either trisomy 13 or trisomy 15.
D)He has an increased risk for having a child born with either monosomy 13 or monosomy 15.
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Chapter 7: Sex Chromosome and Mitochondrial Inheritance and Disorders
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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) What is the risk for a man with a 47,XYY karyotype to produce a child with a 47,XYY karyotype?
A)100%
B)50%
C)25%
D)0%
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Chapter 8: Family History and Pedigree Construction
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Sample Questions
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) What is the significance of a horizontal dashed line drawn between a male and a female?
A)The two siblings are both adopted.
B)The individuals have a casual sexual relationship and are not married.
C)The individuals have a third-degree (or later) blood relationship with each other.
D)Neither of the two individuals is a first- or second-degree relative of the proband.
Q3) What is the significance of a pedigree symbol consisting of a square with a diagonal slash mark through it?
A)Affected female
B)Affected male
C)Deceased female
D)Deceased male
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Chapter 9: Congenital Anomalies, Basic Dysmorphology, and
Genetic Assessment
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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) 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
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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Chapter 10: Enzyme and Collagen Disorders
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Sample Questions
Q1) A 12-year-old boy with Marfan syndrome complains to his nurse-practitioner, "My mother won't let me play football or do anything else. Isn't there something Ican do besides sitting and playing video games?" Which of the following activities may be considered less risky for this child to perform? Select all that apply.
A) Soccer (not the goalie position)
B) Riding his bike with his friends
C) Playing table tennis
D) Competitive swimming
E) Archery
F) Recreational ice-skating
G) Hiking low- to moderate-difficulty trails
H) Basketball
Q2) 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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Chapter 11: Common Childhood-Onset Genetic Disorders
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Sample Questions
Q1) 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.
Q2) How is hemophilia A (classical hemophilia) different from hemophilia B?
A)Symptoms of hemophilia B are not present at birth, but those of hemophilia A are.
B)In hemophilia B, the affected gene is on an autosome instead of the X chromosome.
C)The clotting factor problem in hemophilia B is a deficiency of factor IX rather than factor VIII.
D)The physiologic effect on the partial thromboplastin time is more profound with hemophilia than with hemophilia B.
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Chapter 12: Common Adult-Onset Disorders
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Q1) Which condition or factor most strongly supports a genetic basis for the development of type 2 diabetes mellitus?
A)Type 2 diabetes occurring in two cousins before age 30 years
B)The disease developing in a person whose parents also have type 2 diabetes
C)The fact that the incidence of disease concordance is higher in dizygotic twins than in monozygotic twins
D)The fact that type 2 diabetes is more prevalent in one city than it is in another city of similar size
Q2) Which type of maturity-onset diabetes of the young (MODY) is the most common?
A)MODY-1
B)MODY-2
C)MODY-3
D)MODY-4
Q3) Which autoimmune disorder has the greatest environmental contribution?
A)Stickler syndrome
B)Rheumatoid arthritis
C)Multiple sclerosis
D)Systemic lupus erythematosus
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14
Chapter 13: Cardiovascular Disorders
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Sample Questions
Q1) Which lysosomal storage disease is associated with an increased risk for stroke?
A)Fabry disease
B)Gaucher disease
C)Hurler syndrome
D)Tay-Sachs disease
Q2) What is the genetic contribution to the development of the most common forms of atherosclerosis?
A)Variation in a variety of genes, with each exerting a small effect
B)Disordered mitochondrial function reducing energy production
C)Genetic predisposition expressed after exposure to a viral trigger
D)Single-gene mutation following autosomal-dominant inheritance
Q3) Which statement about atrial fibrillation is correct?
A)It is the most common genetic cardiac disorder worldwide.
B)A variety of different genes can contribute to its expression.
C)It is found exclusively in adults over 60 years old.
D)When severe, it leads to long QT syndrome.
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15
Chapter 14: The Genetics of Cancer
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Sample Questions
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) By which process does "promotion" assist in cancer development?
A)Inflicting mutations at specific sites on the exposed cell's DNA
B)Stimulating or enhancing cell division of cells damaged by a carcinogen
C)Increasing the transformed cell's capacity for error-free DNA repair
D)Making cancer cells appear more normal and escaping immunosurveillance
Q3) Which theory of carcinogenesis has the most support?
A)DNA damage, which permits overexpression of oncogenes
B)RNA damage, which results in incomplete protein formation
C)Autoantibodies, which attack specific "self" tissues and organs
D)The failure of embryonic tissues to undergo normal differentiation
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Chapter 15: Genetic Contributions to Psychiatric and Behavioral Disorders
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Q1) Which condition provides the greatest support for a strong genetic contribution to autism spectrum disorders (ASDs)?
A)Concordance among dizygotic twins is 10%.
B)Males are affected four times more frequently than females.
C)People with some neurologic disorders also have features of ASDs.
D)ASDs are more likely to occur in children of parents who are over 35 at the time of conception.
Q2) 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.
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Page 17
Chapter 16: Genetic and Genomic Testing
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Sample Questions
Q1) 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
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) How is cell-free DNA (cdDNA) testing being used clinically?
A)To determine a person's risk for developing breast cancer
B)As an inexpensive alternative to standard paternity testing
C)As a less invasive way to determine the characteristics of cancer cells
D)As a way to determine whether a specific suspect has committed a rape
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18
Chapter 17: Assessing Genomic Variation in Drug Response
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Q1) You are caring for a child with acute lymphoblastic leukemia. She has been genotyped and is homozygous for a TPMT polymorphism, producing very little of the enzymeneeded for this drug's metabolism. How would you expect this to affect dosing of the drug 6-mercaptopurine?
A)This child should receive only a small fraction of the standard dose.
B)This child should receive the drug intravenously rather than orally.
C)This child should receive higher doses than the standard dose.
D)This child should receive the standard dose.
Q2) How do genetic/genomic issues influence individual variation in the response to a specific drug?
A)Polymorphisms of genes encoding metabolizing enzymes
B)Age-related loss of alleles within the cells lining the intestinal tract
C)Single-gene disorders that reduce the function of the kidneys or the liver
D)Genetic-based behavior problems that promote poor adherence to prescribed drug regimens
Q3) Which organ has the greatest concentration of cytochrome P (CYP) 450 enzymes?
A)Stomach
B)Kidney
C)Brain
D)Liver
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Chapter 18: Health Professionals and Genomic Care
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Sample Questions
Q1) 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
Q2) Why are general physicians and surgeons not considered to be genetics professionals?
A)The typical patients seen by these health-care providers have acute conditions rather than chronic conditions, and thus genetic influence is irrelevant.
B)Most of today's physicians and surgeons were educated before completion of the human genome research project.
C)These health-care professionals have minimal experience with genetics laboratory techniques.
D)The focus of their professional education is the study of medicine rather than genetics.
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Chapter
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Q1) 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
Q2) You are caring for a college professor who has been offered testing for her family's mutation in BRCA1. She expresses fear of genetic discrimination as a reason forrefusing genetic testing. What do you tell her?
A)"There is no need to be concerned about genetic discrimination."
B)"I appreciate your concern, but there is no way your insurance company or employer will ever be able to get your genetic testing results."
C)"There is now federal legislation banning genetic discrimination, and in addition, we will do everything we can to keep your results confidential."
D)"There have been no instances of documented genetic discrimination in insurance or employment. This concern is overblown."
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Page 21
Chapter 20: Genetic and Genomic Variation
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Q1) Why are people of Ashkenazi Jewish descent more likely to be carriers of the mutations that cause Tay-Sachs and Gaucher disease?
A)The environment of Eastern Europe increased their risk of developing a mutation.
B)The common diet shared by these people has reduced their genetic diversity.
C)Bottleneck effects have reduced the genetic diversity in this population.
D)Being heterozygous for these diseases allowed them to survive cholera.
Q2) 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
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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