Genetic Counseling for Nurses Study Guide Questions
Course Introduction
This course equips nursing professionals with foundational knowledge and practical skills in genetic counseling, emphasizing its integration into clinical practice. Students will explore basic concepts in human genetics, inheritance patterns, genetic risk assessment, and the psychosocial aspects of counseling individuals and families. The curriculum covers ethical, legal, and cultural considerations relevant to genetic information, testing, and decision-making. Through case studies and role-playing, nurses will learn communication strategies to effectively provide education, support, and resources to patients facing genetic health concerns. This course aims to prepare nurses to collaborate within multidisciplinary healthcare teams and advocate for patients in an era of rapidly advancing genetic technologies.
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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Sample Questions
Q1) What would be the expected result of a drug that affected a particular tissue by causing new DNA to form with covalent bonds instead of hydrogen bonds?
A)None of the cells in the affected tissue would be able to leave G0 and enter the cell cycle.
B)Replication of DNA would result in identical DNA strands instead of complementary strands.
C)Mitosis of cells in the tissue would result in the production of three new daughter cells instead of just two.
D)The new cells that formed within this tissue would not be able to complete the next round of mitosis successfully.
Answer: D
Q2) What is the result of normal 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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Sample Questions
Q1) Why are ribonucleases that digest mature messenger RNA a necessary part of protein synthesis?
A)These enzymes prevent overexpression of critical proteins.
B)Without ribonucleases, messenger RNA could leave one cell type and lead to excessive protein synthesis in a different cell type.
C)When ribonucleases degrade RNA, the degradation products are recycled, making protein synthesis more energy efficient.
D)The activity of these enzymes promotes increased translation of individual messenger RNAs so that fewer RNA molecules are needed for protein production.
Answer: A
Q2) Astrand of recently transcribed mRNA contains the following components: intron (1), intron (2), exon (3), intron (4), exon (5), exon (6), exon (7), intron (8). Which sequence is expected to appear in the mature mRNA?
A)1, 2, 3, 4, 5, 6, 7, 8
B)2, 3, 4, 5, 6, 7
C)1, 2, 4, 8
D)3, 5, 6, 7
Answer: D
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Page 4
Chapter 3: Genetic Influence on Cell Division, Differentiation, and Gametogenesis
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Sample Questions
Q1) How does apoptosis contribute to healthy organ and whole-body function?
A)Maintains telomeric DNA
B)Allows cells to differentiate rather than to undergo mitosis
C)Removes old or damaged cells from an organ population
D)Activates oncogenes when cells are damaged or necrotic
Answer: C
Q2) How do transcription factors influence cell division?
A)They directly transmit external signals to the cell's nucleus.
B)Transcription factors regulate the expression of genes involved in cell division.
C)Loss or inactivation of transcription factors degrades suppressor gene protein products.
D)Transcription factors are enzymes that activate promitotic substances by adding a phosphate group to the chemical structure.
Answer: B
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Chapter 4: Patterns of Inheritance
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Sample Questions
Q1) Which trait or disorder has both an autosomal-dominant form and an autosomal-recessive form?
A)Widow's peak
B)Diabetes mellitus type 2
C)Polycystic kidney disease
D)Taste sensitivity to phenylthiocarbamate (PTC)
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) 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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6
Chapter 5: Epigenetic Influences on Gene Expression
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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) 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) 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.
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Chapter 7: Sex Chromosome and Mitochondrial Inheritance and Disorders
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Q1) At what specific location on an X chromosome is a break most likely to occur in fragile X syndrome?
A)The centromere
B)End of the p arm
C)End of the q arm
D)Within the nucleosome
Q2) 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
Q3) What is the most likely mechanism for a 45,X karyotype?
A)Anticipation
B)Nondisjunction
C)Expansion
D)Heteroplasmy
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9
Chapter 8: Family History and Pedigree Construction
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Sample Questions
Q1) A man with syndactyly, an autosomal-dominant condition, has one child who also has syndactyly. His unaffected wife states, "Because the risk for having a child withthis problem is 50% and our first child has the problem, the next child will not be affected." What is the best response to this statement?
A)"That is not quite true because the risk is 50% with each pregnancy, so with all future children, you would have a 50% risk."
B)"That is not quite true because you could also have the mutation but not show the problem if there is variable expressivity."
C)"That is correct, but if you have more than two children, half of them will have syndactyly, and 50% will not have it."
D)"That is correct, and if you only have two children, the second one will not have syndactyly."
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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Page 10
Chapter 9: Congenital Anomalies, Basic Dysmorphology, and
Genetic Assessment
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Sample Questions
Q1) What mechanism results in the malformation of cleft lip?
A)An abnormal developmental process
B)An abnormal organization of cells
C)A mechanical process
D)The breakdown of an originally normal developmental process
Q2) Which term is used to describe the condition of widely spaced eyes?
A)Hypertelorism
B)Hypotelorism
C)Hyperoculoci
D)Hypo-oculoci
Q3) 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
Q4) 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) Which action or behavior is considered an "executive function"?
A)Hopping on one foot
B)Learning the names of animals
C)Deciding what to give as a present
D)Counting the number of objects in a picture
Q2) If a man with Fabry disease has children with a woman who is a carrier for the disorder, what is the expected risk pattern?
A)All sons will be unaffected; all daughters will be carriers.
B)Sons have a 50% risk for being affected; all daughters will either be affected or carriers.
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.
Q3) Which ethnic group has the highest incidence of Gaucher disease?
A)Ashkenazi Jews
B)Asian Americans
C)American Indians
D)Individuals of Mediterranean descent
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Chapter 11: Common Childhood-Onset Genetic Disorders
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Sample Questions
Q1) 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
Q2) 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
Q3) 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.
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13
Chapter 12: Common Adult-Onset Disorders
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Q1) Which autoimmune disorder has the greatest environmental contribution?
A)Stickler syndrome
B)Rheumatoid arthritis
C)Multiple sclerosis
D)Systemic lupus erythematosus
Q2) If a man with hereditary hemochromatosis has children with a woman who is a carrier for the disorder, what is the expected risk pattern?
A)All sons will be affected; all daughters will be carriers.
B)Daughters have a 50% risk for being affected; all sons will either be affected or carriers.
C)Each child of either gender has a 50% risk of being a carrier and a 50% risk of having the disease.
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 13: Cardiovascular Disorders
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Sample Questions
Q1) What is the most accurate classification of the common forms of coronary artery disease and hypertension?
A)Secondary disorders caused by lifestyle choices
B)Sequential genetic disorders related to age, ethnicity, and gender
C)Complex disorders resulting from gene-environment interactions
D)Primary disorders with an autosomal-dominant pattern of inheritance
Q2) Which variable in a person with coronary artery disease (CAD) increases the likelihood of a strong genetic influence in its expression?
A)The disorder is not present in the person's dizygotic twin.
B)The disorder is present in a woman whose father had CAD.
C)The affected person has eaten a vegetarian diet for the past 5 years.
D)The disorder is present in about 5% of the person's maternal family members.
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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Page 15
Chapter 14: The Genetics of Cancer
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Sample Questions
Q1) What percentage of common cancers appears to be hereditary?
A)1% to 3%
B)5% to 15%
C)20% to 25%
D)About 35%
Q2) 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.
Q3) 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.
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Page 16
Chapter 15: Genetic Contributions to Psychiatric and Behavioral Disorders
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Sample Questions
Q1) Which statement about attention deficit hyperactivity disorder (ADHD) is true?
A)The problem is more common among girls whose fathers also had the disorder.
B)By the time a person with ADHD reaches adulthood, all symptoms have resolved.
C)It is a complex disorder caused by gene variants along with environmental contributions.
D)Symptoms of the disorder are ameliorated when the person sleeps more soundly as a result of pharmacologic intervention.
Q2) Which condition or behavior suggests attention deficit hyperactivity disorder (ADHD)?
A)A 5-year-old who does not want to go to bed at 8:00 p.m. and begs to be allowed to stay up later
B)An 8-year-old who can hop on one foot but cannot ride a bicycle without training wheels
C)A 9-year-old who does not focus on a favorite story or game for longer than 3 minutes
D)A 10-year-old who prefers to play basketball rather than chess
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Page 17
Chapter 16: Genetic and Genomic Testing
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Sample Questions
Q1) A woman whose sister tested positive for a specific mutation in the BRCA1 gene, which increases the risk for breast and ovarian cancer, is found not to have that mutation but does have a mutation of unknown significance near the known mutation site. How should this woman be counseled?
A)She should be informed that her risk for breast cancer is greater than that of the general population but not as great as her sister's risk.
B)She should be informed that because she does not have the mutation, her risk for breast cancer is not greater than that of the general population.
C)She should be informed that she does not have the specific mutation but that because another mutation is present, she should be vigilant about screening.
D)She should be informed of her gene-mutation status and be presented with all the available prophylaxis options and reconstruction options.
Q2) 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
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Page 18
Chapter 17: Assessing Genomic Variation in Drug Response
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Sample Questions
Q1) What would be the patient's response to a normal drug dose that, because of a genetic variation in an enzyme that prepares the drug for elimination, results ina blooddrug level that is below the minimum effective concentration (MEC)?
A)Drug entry exceeds drug elimination.
B)The risk for toxic side effects is increased.
C)The intended response fails to be produced.
D)The drug's duration of action is longer than expected.
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) 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
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19
Chapter 18: 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 criterion 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) 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
Q2) 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
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Chapter 20: Genetic and Genomic Variation
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Sample Questions
Q1) What factors could increase genetic diversity in a particular population?
A)Genetic drift
B)The population effect
C)The bottleneck effect
D)Increased number of haplotypes
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) 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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