Genomics in Health Care Final Exam
Course Introduction
This course explores the rapidly advancing field of genomics and its transformative impact on health care. Students will learn about the structure and function of genomes, the technologies used to sequence and analyze genetic material, and how genomic data is integrated into clinical practice. Topics include the genetic basis of disease, personalized medicine, ethical considerations in genetic testing, and the role of genomics in public health and preventative medicine. Through case studies and current research, participants will gain insights into how genomic information is shaping diagnostics, treatment plans, and health policy, preparing them to critically evaluate and apply genomic knowledge in a healthcare setting.
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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Chapter 1: DNA Structure and Function
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25 Verified Questions
25 Flashcards
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Sample Questions
Q1) What activity occurs during M phase of the cell cycle?
A)The cell undergoes cytokinesis.
B)Activity stops, and the cell "sleeps."
C)All DNA is completely replicated.
D)The cell greatly increases protein synthesis.
Answer: A
Q2) Under what normal condition are genotype and phenotype always the same?
A)Euploidy of alleles
B)Aneuploidy of alleles
C)Homozygosity of alleles
D)Heterozygosity of alleles
Answer: C
Q3) What percentage of bases in a stretch of double-stranded DNA that contains 30% guanine (G) bases would be adenine (A)?
A)70%
B)60%
C)30%
D)20%
Answer: D
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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 would be the sequence of RNA complementary to single-stranded DNA with the base sequence of ACCTGAACGTCGCTA?
A)TGGACTTGCAGCGAT
B)ACCTGAACGTCGCTA
C)UGGACUUGCAGCGAU
D)ACCUGAACGUCGCUA
Answer: C
Q2) After a protein is synthesized during translation, what further process or processes is/are needed for it to be fully functional?
A)No further processing beyond the linear arrangement of amino acids is required.
B)Although minimal function can occur in the linear form, the protein is more active when it undergoes mitosis.
C)The protein first twists into a secondary structure and then "folds" into a specific tertiary structure for activation and function.
D)The initial protein produced is a "preprotein" that requires a series of depolarizations by electrical impulses for conversion to an active protein.
Answer: C
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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) In what way is hypertrophic tissue growth more advantageous than hyperplastic tissue growth?
A)There is no limit to how large a tissue or organ can become.
B)It proceeds at the same rate throughout a person's life span.
C)Less energy is required for hypertrophic growth.
D)Differentiated functions change with aging.
Answer: C
Q2) What is the general purpose of tyrosine kinase enzymes?
A)Activating cyclins by phosphorylation
B)Increasing the amount of sodium-driven transcription factor activity
C)Suppressing the activation of oncogene expression
D)Uncovering growth factor receptor sites on plasma membranes
Answer: A
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
Page 5
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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 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) With which type of inheritance pattern does the trait or disorder usually first appear among siblings rather than in parents of affected children?
A)Autosomal dominant
B)Autosomal recessive
C)X-linked dominant
D)Codominant
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6
Chapter 5: Epigenetic Influences on Gene Expression
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Sample Questions
Q1) What would be the expected outcome for a person who has a normal gene allele and an abnormal gene allele for insulin and the area around the abnormal gene allele isheavily methylated?
A)Normal insulin is produced in normal amounts.
B)Normal insulin is produced in lower-than-normal amounts.
C)Abnormal insulin is produced in normal amounts.
D)Abnormal insulin is produced in higher-than-normal amounts.
Q2) 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.
Q3) 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 best explanation for a person whose karyotype from blood cells shows nearly all cells to have trisomy 21 to have 10 clinical manifestations of Downsyndromeand an above-average intelligence?
A)The trisomy was a result of nondisjunction of paternal gametes instead of maternal gametes.
B)The person has pseudo-Down syndrome, in which environmental conditions caused the person to have development that mimics only the physical manifestations.
C)The person has genomic imprinting, in which the paternal number 21 chromosome is not expressed, and both maternally derived number 21 chromosomes are expressed.
D)The person has mosaicism of trisomy 21, with blood cells having a high proportion and neurons having a low proportion of cells, with three number 21 chromosomes.
Q2) Which syndrome or condition represents monosomy?
A)Cri du chat
B)Patau syndrome
C)Turner syndrome
D)Robertsonian translocation
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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 feature is common among people who have Klinefelter syndrome (47,XXY) or a karyotype with 47,XXX but not among people who have Down syndrome or Edward syndrome?
A)Severely reduced cognition
B)Cleft palate
C)Tall stature
D)Infertility
Q2) 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.
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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) Which pair of relatives represents a first-degree relationship?
A)Grandfather and grandson
B)Aunt and nephew
C)Sister and brother
D)Two cousins
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Chapter 9: Congenital Anomalies, Basic Dysmorphology, and
Genetic Assessment
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Sample Questions
Q1) Which condition in a newborn should be described as a deformation if it is the only abnormal finding?
A)A unilateral clubfoot
B)A sealed (imperforate) anus
C)The absence of a thyroid gland
D)The presence of six toes on each foot
Q2) What is the most important action to take when assessing an infant for possible dysmorphic features?
A)Assess the phenotypes of first-degree relatives.
B)Count the number of minor anomalies present.
C)Use an atlas that includes globally diverse populations.
D)Determine whether an identified dysmorphic feature is a malformation or a deformation.
Q3) Naomi and her sister have the same allele for the gene of interest; however, Naomi has cleft lip, whereas her sister has only lip pits. What genetic process explains this difference?
A)Genomic imprinting
B)Decreased penetrance
C)Genetic heterogeneity
D)Variable expressivity
Page 11
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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) The mother of a teenager recently diagnosed with osteogenesis imperfecta type I (OI) asks if the problem is related to the fact that she adhered to a vegetarian diet during pregnancy. What is the most appropriate response?
A)Your diet is not related to this disease because it is an inherited disorder.
B)Although this problem can be inherited, low calcium levels are a major cause.
C)That is one possibility, especially because collagen requires proteins to form.
D)More likely, it is related to the fact that you were older than 35 years of age when you became pregnant.
Q2) Which manifestation is a characteristic feature of untreated phenylketonuria (PKU)?
A)Increased skin pigmentation
B)Excessive urination
C)Fragile bones
D)Small stature
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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 regarding type 1 von Willebrand disease (VWD) is true?
A)Incomplete penetrance is common.
B)It represents the female form of hemophilia.
C)Carriers can transmit the disease to their children.
D)Males are affected twice as frequently as females.
Q2) What is the explanation for creatine kinase (CK) levels in a 14-year-old boy with Duchenne muscular dystrophy being much lower now than they were 5 years ago?
A)His disease is improving.
B)He now performs passive rather than active exercise.
C)Most of the muscle tissue has already been destroyed.
D)The disease is probably Becker muscular dystrophy (BMD) rather than Duchenne muscular dystrophy.
Q3) Which additional health problem commonly develops in boys with Duchenne muscular dystrophy?
A)Arthritis
B)Hypertension
C)Diabetes mellitus
D)Chronic heart failure
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Chapter 12: Common Adult-Onset Disorders
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25 Verified Questions
25 Flashcards
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Sample Questions
Q1) What is the inheritance pattern for -1 antitrypsin (ATT) deficiency?
A)Autosomal dominant
B)Autosomal recessive
C)Autosomal codominant
D)Sex-linked recessive
Q2) Why do the clinical signs and symptoms of hereditary hemochromatosis not appear until middle adulthood?
A)The adult over 50 has had more exposures to environmental insults over time.
B)Prolonged dietary exposure to toxins produces clinical symptoms.
C)Hereditary hemochromatosis has age-related penetrance.
D)Stored iron builds up over time, causing organ damage.
Q3) Which type of diabetes has a slow onset and is often diagnosed in North American only when a complication is present?
A)Type 1 diabetes mellitus
B)Type 2 diabetes mellitus
C)Maturity-onset diabetes of the young (MODY)
D)Gestational diabetes mellitus
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Chapter 13: Cardiovascular Disorders
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Sample Questions
Q1) For patients who have familial hypercholesterolemia, what should be the focus of teaching for blood cholesterol reduction?
A)Eliminating animal fats from the diet
B)Increasing the amount of fruit in the diet
C)Exercising at least 4 to 5 hours every week
D)Taking the lipid-lowering drug as prescribed
Q2) Why is factor V Leiden disorder considered a form of thrombophilia?
A)Platelet activity is impaired.
B)Blood clots form more easily.
C)Atherosclerosis development is accelerated.
D)Excessive bleeding episodes occur in response to minor trauma.
Q3) Which lethal cardiac arrhythmia can occur as a complication of long QT syndrome?
A)Atrial node reentry tachycardia
B)Prolonged atrial fibrillation
C)Mitral valve prolapse
D)Torsade de pointes
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Chapter 14: The Genetics of Cancer
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Sample Questions
Q1) Why are people who have poor DNA repair mechanisms at greater risk for cancer development?
A)Their cancers are usually resistant to chemotherapy.
B)They have sustained the initial "hit" in all cells and tissues.
C)Their somatic mutations are more likely to be permanent.
D)They have greater exposure to environmental carcinogens.
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 personal factors indicate the possibility of a person having a BRCA1 or BRCA2 mutation? Select all that apply.
A)The person has an adopted sister with ovarian cancer.
B)The person's brother was diagnosed with breast cancer.
C)The person has always been 20 lb overweight as an adult.
D)The patient's father died of pancreatic cancer at age 44.
E) The person is of Ashkenazi Jewish ethnicity. F. The person's 78-year-old grandmother was just diagnosed with breast cancer.
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Page 16
Chapter 15: Genetic Contributions to Psychiatric and Behavioral Disorders
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Sample Questions
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) 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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Chapter 16: Genetic and Genomic Testing
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Sample Questions
Q1) Which type of genetic testing examines a person's chromosomes for variations in number or structure?
A)Cytogenetic testing
B)Preimplantation testing
C)Predictive testing
D)Electropherogram testing
Q2) 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
Q3) What type of genetic test provides information about an asymptomatic person's risk for having a child with a specific autosomal-recessive disorder in the future?
A)Carrier test
B)Diagnostic test
C)Newborn screening
D)Predictive test
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Chapter 17: Assessing Genomic Variation in Drug Response
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Sample Questions
Q1) 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
Q2) Which condition or factor improves the initial bioavailability of a drug agonist that has extensive first-pass loss as a result of the patient's enhanced liver enzymeactivity?
A)Increasing the patient's fluid intake
B)Co-administering the drug with an antagonist
C)Administering the drug by the intravenous route
D)Crushing the oral form of the drug before administration
Q3) 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.
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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) 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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Page 20
Chapter
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Sample Questions
Q1) Under which condition(s) would genetic testing for predisposition to an inherited disorder in a minor child be considered reasonable?
A)When the family pedigree indicates an autosomal-dominant pattern of inheritance
B)When the risk is high and prophylaxis to reduce the severity of the disorder is available
C)When penetrance is high and the expected onset is middle adulthood
D)When the mutation within a family is known and is specific
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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Chapter 20: Genetic and Genomic Variation
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Sample Questions
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) 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
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