Health Assessment and Genomics
Exam Answer Key
Course Introduction
Health Assessment and Genomics explores the integration of comprehensive health assessment techniques with genomic science to enhance patient care. This course covers foundational skills in physical, psychosocial, and cultural health evaluation, while introducing the principles of genetics and genomics relevant to health and disease. Students learn to interpret genomic data and its implications for risk assessment, disease prevention, diagnosis, and treatment. Emphasis is placed on applying assessment findings and genetic information to individualized care planning, ethical considerations, and interdisciplinary collaboration in diverse healthcare settings.
Recommended Textbook Genetics and Genomics in Nursing and Health Care 1st Edition by Theresa A. Beery
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18 Chapters
307 Verified Questions
307 Flashcards
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Chapter 1: DNA Structure and Function
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Sample Questions
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 statement about G<sub>0</sub> is true?
A)Hyperplastic growth in place of hypertrophic growth
B)Performance of specific differentiated functions
C)Initiation and completion of nucleokinesis
D)Replication of DNA
Answer: B
Q3) What is the result of DNA replication?
A)Formation of two new daughter cells
B)Formation of two identical sets of DNA
C)Disappearance of the original parent cell
D)Activation and attachment of spindle fibers
Answer: B
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Chapter 2: Protein Synthesis
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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)Their somatic mutations are more likely to be permanent.
C)They have greater exposure to environmental carcinogens.
D)They have sustained a mutational event in all cells and tissues.
Answer: B
Q2) Which statement about single nucleotide polymorphisms (SNPs)is true?
A)SNPs can change an exon sequence into an intron sequence.
B)SNPs can change an intron sequence into an exon sequence.
C)SNPs are generally responsible for frameshift mutations.
D)SNPs are generally responsible for point mutations.
Answer: D
Q3) How does an "anticodon" participate in protein synthesis?
A)Splicing out the introns to form a functional and mature messenger RNA
B)Identifying which DNA strand is the "sense" strand to transcribe into RNA
C)Ensuring the appropriate tRNA places the correct amino acid into the protein
D)Interpreting the correct "stop" triplet or codon that signals for translation termination
Answer: C
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Page 4
Chapter 3: Genetic Influences on Cell Growth, cell
Differentiation, and Gametogenesis
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Sample Questions
Q1) 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
Q2) Which event occurs during mitosis?
A)Homologous chromosomes synapse and then cross over
B)The number of chromosomes decreases from diploid to haploid
C)Daughter cells are produced that are genetically identical to the parent cell
D)DNA density decreases and the 46 separate pieces assemble into one linear strand
Answer: C
Q3) Which event characterizes embryonic commitment?
A)Meiotic cell division
B)Selective loss of genes
C)Increased suppressor gene activity
D)Progressive increase in nuclear size
Answer: C
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Chapter 4: Patterns of Inheritance
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Sample Questions
Q1) If there are 10 possible alleles for the single gene trait of nose shape,how many alleles can a person with euploid chromosomes inherit from his or her biological parents?
A)1
B)2
C)4
D)5
Q2) What is the significance of a shift to the left in the threshold value of liability in a threshold of liability model for the expression of a complex health problem with genetic influences?
A)The threshold required for disease expression increases as the population ages.
B)The number of affected individuals within the population has decreased.
C)The population examined for the potential problem is getting larger.
D)The threshold required for disease expression is lower.
Q3) In which situation are phenotype and genotype always the same?
A)X-linked recessive traits
B)X-linked dominant traits
C)Autosomal recessive traits
D)Autosomal dominant traits
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Chapter 5: Chromosomal and Mitochondrial Inheritance and Disorders
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Sample Questions
Q1) 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%
Q2) How is a Robertsonian translocation different from a reciprocal translocation?
A)A Robertsonian translocation is unbalanced,and a reciprocal translocation is balanced.
B)A reciprocal translocation is unbalanced,and a Robertsonian translocation is balanced.
C)Reciprocal translocations occur between whole acrocentric chromosomes,and Robertsonian translocations occur between any two nonhomologous chromosomes.
D)Robertsonian translocations occur between whole acrocentric chromosomes,and reciprocal translocations occur between any two nonhomologous chromosomes.
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Chapter 6: Family History and Pedigree Construction
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Sample Questions
Q1) 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
Q2) What is the risk for disease expression among the offspring of a woman who has an autosomal recessive disorder when her partner is a carrier for the same disorder?
A)All sons will be unaffected;all daughters will be carriers.
B)All children have a 50% risk for being affected and a 50% risk for being a carrier.
C)Daughters have a 50% risk for being affected;all sons will either be affected or carriers.
D)Each child of either gender has a 50% risk of being a carrier,a 25% risk of having the disease,and a 25% risk of neither being a carrier nor having the disease.
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Chapter 7: Congenital Anomalies, basic Dysmorphology, and Genetic Assessment
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Sample Questions
Q1) What is the best description of a drug prescribed to control acne that also causes severe birth defects when it is taken during pregnancy?
A)Pleiotropic
B)Teratogenic
C)Carcinogenic
D)Geneticomimetic
Q2) 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.
Q3) Which statement regarding the fetal alcohol spectrum disorder (FASD)phenotype is correct?
A)Genetic and environmental factors influence the FASD phenotype.
B)The malformations in the phenotype of FASD represent a sequence.
C)The genotype of FASD accurately predicts the phenotype of FASD.
D)The phenotype of FASD accurately predicts the genotype of FASD.
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Page 9
Chapter 8: Enzyme and Collagen Disorders
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Sample Questions
Q1) What is the expected outcome of pregnancy for women with phenylketonuria when the blood levels of phenylalanine are high throughout the pregnancy?
A)Most births are postmature
B)High incidence of infertility
C)Infant develops phenylketonuria
D)High incidence of cardiovascular birth defects
Q2) Couples from which ethnic group would derive the greatest benefit from genetic testing for Tay-Sachs disease?
A)Ashkenazi Jews
B)Asian Americans
C)French Canadians from Quebec
D)Individuals of Mediterranean descent
Q3) Which therapeutic option has been found beneficial for patients with type I Gaucher disease?
A)Daily ingestion of oral sapropterin dihydrochloride (Kuvan)
B)Intravenous enzyme replacement with alpha-L iduronidase
C)Weekly phlebotomy with removal of excess red blood cells
D)Intravenous enzyme replacement with imiglucerase (Cerezyme)
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Chapter 9: Common Childhood-Onset Genetic Disorders
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Sample Questions
Q1) Which statement regarding classic hemophilia is true?
A)Females are not affected.
B)Because hemophilia is X-linked recessive,females are affected and males are carriers.
C)Because hemophilia is X-linked recessive,males are affected and females are carriers.
D)The sons of women who are older than age 40 when pregnant are at an increased risk for hemophilia.
Q2) Which type of testing is most commonly used to diagnose sickle cell disease?
A)Hematocrit and hemoglobin levels
B)Hemoglobin electrophoresis
C)Genetic mutation analysis
D)Sweat chloride analysis
Q3) Which factor has the greatest influence in the development of type 1 diabetes mellitus?
A)Inheritance of the HLA-DR or HLA-DQ tissue types
B)Sedentary lifestyle coupled with childhood obesity
C)Mutation in the gene for pancreas development
D)Advanced maternal age at conception
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11
Chapter 10: Common Adult-Onset Genetic Disorders
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Sample Questions
Q1) Which genetic disorder is associated with an increased risk for type 2 diabetes?
A)Achondroplasia
B)Down syndrome
C)Huntington disease
D)Hereditary hemochromatosis
Q2) 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.
Q3) 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 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.
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Page 12
Chapter 11: Cardiovascular Disorders
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Sample Questions
Q1) Which statement about atrial fibrillation is correct?
A)It is the most common genetic cardiac disorder worldwide.
B)A variety of different genes contribute to its expression.
C)It is found exclusively in adults over 60 years old.
D)When severe,it leads to long QT syndrome.
Q2) 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
Q3) Which total plasma cholesterol levels are most likely to be present in people who are homozygous for an allele that causes familial hypercholesterolemia?
A)100 mg/dL to 200 mg/dL
B)200 mg/dL to 300 mg/dL
C)400 mg/dL to 500 mg/dL
D)600 mg/dL to 1200 mg/dL
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Chapter 12: The Genetics of Cancer
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Sample Questions
Q1) Which cancer type is associated with a 9;22 translocation t(9;22)?
A)Acute promyelocytic leukemia
B)Acute lymphocytic leukemia
C)Chronic lymphocytic leukemia
D)Chronic myelogenous leukemia
Q2) How does an acquired mutation in a somatic cell gene leading to cancer development affect a person's ability to pass on a predisposition for that cancer type to his or her children?
A)The predisposition can only be passed on if the person with the somatic cell mutation is female.
B)The risk for predisposition is dependent upon which tissue type experienced the somatic mutation.
C)Multiple somatic mutations are required for passing on a predisposition to cancer development.
D)There is no risk of passing on a cancer predisposition from a somatic cell mutation.
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14
Chapter 13: Genetic Contributions to Psychiatric and Behavioral Disorders
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Sample Questions
Q1) Which "schizophrenia fact" is correct?
A)When schizophrenia has more genetic influence,its onset begins in very early childhood.
B)Copy number variants appear to play the most important role in genetic risk for schizophrenia.
C)When one identical twin is affected with schizophrenia the other most certainly will be affected.
D)Because the phenotype of schizophrenia is so obvious,diagnosis and inheritance risk are the most easily determined of all the psychiatric disorders.
Q2) What is the heritability estimate for addiction to alcohol in both males and females?
A)10% to 20%
B)20% to 40%
C)50% to 60%
D)60% to 80%
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Chapter 14: 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)Pre-implantation testing
C)Predictive testing
D)Electropherogram testing
Q2) Genetic testing of an asymptomatic woman whose sister is positive for the mutation that is responsible for autosomal dominant disorder that has a 70% penetrance rate would fall into which testing category?
A)Diagnostic predisposition
B)Diagnostic presymptomatic
C)Predictive predisposition
D)Predictive presymptomatic
Q3) Which type of genetic testing is the most sensitive method for detecting any mutation in a specific gene?
A)Immunohistochemistry
B)Direct DNA sequencing
C)Banded chromosomal analysis
D)Fluorescence in situ hybridization
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Page 16
Chapter 15: Assessing Genomic Variation in Drug Response
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Sample Questions
Q1) 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 painful injury,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.
Q2) 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
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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Page 17
Chapter 16: Health Professionals and Genomic Care
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Sample Questions
Q1) 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.
Q2) Which statement or criteria correctly is a required component for certification as an Advanced Practice Nurse in Genetics (APNG)?
A)A 2-year residency in clinical genetics
B)An earned PhD or DNP with coursework focusing on genetics
C)Completion of 500 hours of direct bedside care for patients with genetic disorders
D)Completion of a 50-case log describing the nurse's actions that reflect the standards of clinical genetic nursing practice
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Chapter
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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 is concerned 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) A scientist in a distant country is working to develop a genetic test that will screen embryos so that only those producing tall children with beautiful features will be implanted.What area of genetic work or studies does this example represent?
A)Eugenics
B)Cybernetics
C)Cytogenetics
D)Genetic imprinting
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Chapter 18: Genetic and Genomic Variation
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Q1) 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
Q2) 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
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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