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A patient whose mother has diagnosed with BRCA gene-related breast cancer asks the nurse, 'Do you think I should be tested for the gene?' Which of the following responses by the nurse is most appropriate?
- A. In most cases, breast cancer is not caused by the BRCA gene.
- B. It depends on how you will feel if the test is positive for the BRCA gene.
- C. There are many things to consider before deciding to have genetic testing.
- D. You should decide first whether you are willing to have a double mastectomy.
Correct Answer: C
Rationale: Although presymptomatic testing for genetic disorders allows patients to take action (such as mastectomy) to prevent the development of some genetically caused disorders, patients also need to consider that test results in their medical file may impact other areas of their life. Telling a patient that a decision about mastectomy should be made before testing implies that the nurse has made a judgment about what the patient should do if the test is positive. Although the patient may need to think about her reaction if the test is positive, other issues also should be considered. Although most breast cancers are not related to BRCA gene alterations, the patient with the gene alteration has a markedly increased risk for breast cancer.
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A newly pregnant woman asks the nurse what the best time is for chorionic villus sampling? Which of the following time frames is the basis for the nurse's response?
- A. 8-10 weeks
- B. 11-12 weeks
- C. 15-16 weeks
- D. 19-20 weeks
Correct Answer: B
Rationale: Chorionic villus sampling (CVS) is done in the first trimester, usually between 11 and 12 weeks gestation.
When carrying out pre-symptomatic testing, which of the following diseases has a gene that is 100% penetrant?
- A. Tay-Sachs disease
- B. Fragile X syndrome
- C. Cystic fibrosis
- D. Huntington's disease
Correct Answer: D
Rationale: In pre-symptomatic testing, an individual has genetic testing to determine whether she or he carries a genetic mutation for a genetic disorder. Typically, individuals electing this testing are members of a family that exhibits a genetic disorder. An example of this would be genetic testing for Huntington's disease, an adult-onset condition characterized by progressive neurological degeneration. The gene responsible for Huntington's disease is 100% penetrant, that is, everyone who inherits this mutation will exhibit the disease and, since there is no cure, will die of the disease.
A newly pregnant woman asks the nurse what the best time is for a prenatal diagnostic amniocentesis? Which of the following time frames is the basis for the nurses' response?
- A. 7-10 weeks
- B. 11-13 weeks
- C. 15-17 weeks
- D. 20-24 weeks
Correct Answer: C
Rationale: A prenatal diagnostic ultrasound should be done between 15 and 17 weeks of gestation during which amniocentesis can be performed.
Which of the following terms describe the process by which the codon sequence is converted to amino acids?
- A. Transcription
- B. Mutation
- C. Translation
- D. Processing
Correct Answer: C
Rationale: After transcription is complete, translation occurs. Translation is the process through which the codon sequence is converted into amino acids.
A pregnant patient with a family history of cystic fibrosis (CF) asks the emergency department nurse for information about genetic testing. Which of the following actions is most appropriate for the nurse to take?
- A. Refer the patient to a qualified genetic counsellor.
- B. Ask the patient why genetic testing is important to her.
- C. Remind the patient that genetic testing has many social implications.
- D. Tell the patient that cystic fibrosis is an autosomal-recessive disorder.
Correct Answer: A
Rationale: Although the nurse should understand basic genetics, the emergency department is often not the ideal environment for genetic counselling. A genetic nurse or counsellor is best qualified to address the multiple issues involved in genetic testing for a patient who is considering having children. Although genetic testing does have social implications, a pregnant patient will be better served by a genetic counsellor who will have more expertise in this area. CF is an autosomal-recessive disorder, but the patient might not understand the implications of this statement. Asking why the patient feels genetic testing is important may imply to the patient that the nurse is questioning her value system regarding issues such as abortion.