Chapter 13: Genetics and Genomics Flashcards
- The sister of a patient diagnosed with BRCA generelated breast cancer asks the nurse, Do you think I should be tested for the gene? Which response 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 bilateral mastectomy.
ANS: C
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 record may affect insurance, employability, etc. 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 (e.g., insurance) also should be considered. Although most breast cancers are not related to BRCA gene mutations, the patient with a BRCA gene mutation has a markedly increased risk for breast cancer.
- When counseling a couple in which the man has an autosomal recessive disorder and the woman has no gene for the disorder, the nurse uses Punnett squares to show the couple the probability of their having a child with the disorder. Which statement by the nurse is most appropriate?
a.
You should consider adoption.
b.
Your children will be carriers of the disorder.
c.
Your female children will display characteristics of the disorder.
d.
Your first-born child will likely display characteristics of the disorder.
ANS: B
When one parent has an autosomal recessive disorder and the other parent has no genes for the autosomal recessive disorder, the children will not display characteristics of the disorder. However, the children will be carriers of the autosomal recessive disorder.
- A patient with a family history of cystic fibrosis (CF) asks for information about genetic testing. Which response by the nurse is most appropriate?
a.
Refer the patient to a qualified genetic counselor.
b.
Ask the patient why genetic testing is so important.
c.
Remind the patient that genetic testing has many social implications.
d.
Tell the patient that cystic fibrosis is an autosomal recessive disorder.
ANS: A
A genetic counselor 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, the woman will be better served by a genetic counselor 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.
- A male patient with hemophilia asks the nurse if his children will be hemophiliacs. Which response by the nurse is appropriate?
a.
All of your children will be at risk for hemophilia.
b.
Hemophilia is a multifactorial inherited condition.
c.
Only your male children are at risk for hemophilia.
d.
Your female children will be carriers for hemophilia.
ANS: D
Because hemophilia is caused by a mutation of the X chromosome, all female children of a man with hemophilia are carriers of the disorder and can transmit the mutated gene to their offspring. Sons of a man with hemophilia will not have the disorder. Hemophilia is caused by a single genetic mutation and is not a multifactorial inherited condition.
- When caring for a young adult patient who has abnormalities in the cytochrome P450 (CYP 450) gene, which action will the nurse include in the patients plan of care?
a.
Teach that some medications may not work as effectively.
b.
Teach about genetic risk for cystic fibrosis in any children.
c.
Suggest that the patient make heart healthy lifestyle choices.
d.
Discuss the need for screening mammograms starting at age 30.
ANS: A
The CYP 450 gene affects the metabolism of many medications, and they may not work as effectively or may have unexpected toxic effects. The CYP 450 gene does not affect risk for breast cancer, cystic fibrosis, or coronary artery disease.
- A patient tells the nurse, I would like to use a home genetic test to see if I will develop breast cancer. Which response by the nurse is best?
a.
Home genetic testing is very expensive.
b.
Are you concerned about developing breast cancer?
c.
Wont you be depressed if the testing shows a positive result?
d.
Genetic testing can only determine if you are at higher risk for breast cancer.
ANS: B
This response uses the communication technique of clarifying to further assess the patients concerns. The other options accurately indicate information about genetic testing, but the initial response by the nurse should be focused on assessment.
- The nurse in the outpatient clinic has obtained health histories for these new patients. Which patient may need referral for genetic testing?
a.
35-year-old patient whose maternal grandparents died after strokes at ages 90 and 96
b.
18-year-old patient with a positive pregnancy test whose first child has cerebral palsy
c.
34-year-old patient who has a sibling with newly diagnosed polycystic kidney disease
d.
50-year-old patient with a history of cigarette smoking who is complaining of dyspnea
ANS: C
The adult form of polycystic kidney disease is an autosomal dominant disorder and frequently it is asymptomatic until the patient is older. Presymptomatic testing will give the patient information that will be useful in guiding lifestyle and childbearing choices. The other patients do not have any indication of genetic disorders or need for genetic testing.
