Genetic and Genomic Testing - Practice Questions - CH16 PDF

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Chapter 16: Genetic and Genomic Testing Multiple Choice Identify the choice that best completes the statement or answers the question. ____

1. 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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2. Genetic testing that examines an asymptomatic person’s DNA sequence, looking for mutations that

increase a person’s susceptibility to a disease, is an example of which type of testing? A. Diagnostic testing B. Predispositional testing C. Presymptomatic testing D. Cytogenetic testing ____

3. 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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4. 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 ____

5. 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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6. 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 rate would fall into which testing category? A. Diagnostic predisposition B. Diagnostic presymptomatic C. Predictive predisposition D. Predictive presymptomatic ____

7. 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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8. 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 ____

9. How is the polymerase chain reaction (PCR) helpful in the process of genetic testing? A. Preserving genetic material within a sample so that more sophisticated tests can be

performed as they become available with future technologic advancements B. Separating exons from introns and establishing which DNA strand is the “sense” strand C. Determining whether a small amount of DNA is paternal or maternal in origin D. Increasing the amount of DNA being tested, thus promoting accuracy ____ 10. What is the major disadvantage to the fluorescence in situ hybridization (FISH) method of genetic

testing? A. Single-nucleotide mutations cannot be detected. B. Depending on the skill of the technician, the rate of false positives is high. C. The sample for testing must be obtained from living tissue rather than from a preserved specimen. D. Results are not available quickly because cells must first be grown in culture before testing can be performed. ____ 11. When is fluorescence in situ hybridization (FISH) most likely to be used? A. To find a gene associated with a particular disease B. To determine whether a stillborn infant has trisomy 13 C. To determine the carrier status of a child whose sister has cystic fibrosis D. To establish a diagnosis for a possible adult-onset single-gene disorder ____ 12. 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. ____ 13. A patient is 34 years old and concerned about possibly being a carrier for HNPCC because his father

died of colon cancer at 39, his father’s sister died of colon cancer at age 41, and his brother (aged 37) now has colon cancer. The brother’s testing is negative for all the known mutations associated with inherited forms of colon cancer. How should this patient be counseled about his risk for colon cancer? A. Explain that because the brother with cancer is negative for these gene mutations, this cancer is most likely sporadic, and his risk is the same as that for the general population.

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B. Explain that he could benefit from testing even though his brother is negative for

these mutations because reduced penetrance might account for his negative status. C. Explain that testing for him would be of no benefit because of the current test

limitations but that his family history does place him at high risk. D. Explain that his risk is not related to his brother’s diagnosis because he did not

inherit any genes from him, but because his father is a first-degree relative, testing should be considered. Multiple Response Identify one or more choices that best complete the statement or answer the question. ____ 14. Which genetic-based disorders can be initially identified by the most common types of newborn

blood screening? Select all that apply. A. Congenital hypothyroidism B. Cystic fibrosis C. Galactosemia D. Hereditary hemochromatosis E. Phenylketonuria F. Sickle cell disease

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References Beery, T. A., Workman, M. L., & Eggert, J. A. (2018). Genetics and Genomics in Nursing and Health Care 2nd Edition. Retrieved from Davis Plus: https://davisplus.fadavis.com/ProductDetail/ProductDetail?urls=nursing-advanced-practice-genetics-genomics-health-care-beeryworkman-2

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