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What action should a nurse who practices in the area of genetics prioritize?
- A. Teaching families about the different patterns of inheritance
- B. Gathering relevant family and medical history information
- C. Providing advice on termination of pregnancy
- D. Discouraging females from conceiving after the age of 40 years
Correct Answer: B
Rationale: The nurse's role in genetic counseling is to provide information, collect relevant data, offer support, and coordinate resources. Gathering family and medical history is a priority to establish patterns of inheritance and assess risks, unlike the other options, which are either inappropriate or secondary.
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For what health problem would a patient of African American heritage most likely have genetic carrier testing?
- A. Meckels diverticulum
- B. Sickle cell anemia
- C. Huntington disease
- D. Rubella
Correct Answer: B
Rationale: Assessing ancestry and ethnicity is important to help identify individuals who could benefit from genetic testing for carrier identification, such as African Americans routinely offered testing for sickle cell anemia. The other conditions are not specifically associated with African American heritage.
This model for presymptomatic testing is most likely being used to address what disease?
- A. Alzheimers disease
- B. Huntington disease
- C. Tay-Sachs disease
- D. Sickle cell disease
Correct Answer: B
Rationale: Huntington disease has served as the model for presymptomatic testing because the presence of the genetic mutation predicts disease onset and progression. This is not typically the case for Alzheimer's, Tay-Sachs, or sickle cell disease with current testing technologies.
What is the chance that this couple will have a child with six toes?
- A. 25%
- B. 50%
- C. 75%
- D. 100%
Correct Answer: A
Rationale: When two carrier parents have children together, they have a 25% chance of having a child who inherits the gene mutation from each parent and who will have the condition, as in autosomal recessive inheritance. The other percentages are incorrect for this inheritance pattern.
What is the nurses best response?
- A. I am ethically bound to tell your family and your fianc.
- B. Your information will remain confidential until the geneticist reviews everything. Then he or she will have to tell your family.
- C. Have you thought about what this disease will do to the person you are going to marry and any children you may have?
- D. I will respect your wishes and keep your information confidential. I do wish you would reconsider though.
Correct Answer: D
Rationale: The nurse must honor the patient's wishes while explaining the potential benefit this information may have for other family members. Breaching confidentiality or suggesting mandatory disclosure by a geneticist is incorrect. Encouraging reflection is secondary to respecting confidentiality.
What is an essential component of care for this patient?
- A. Assist the patient in determining signs of neuromuscular weakness
- B. Instruct the man on treatment options for Huntington disease
- C. Teach the man how to avoid passing Huntington disease to his own children
- D. Provide genetic counseling, evaluation, and testing for the disease
Correct Answer: D
Rationale: The provision of genetic counseling, evaluation, and testing for the disease is essential in care, especially given the family history of Huntington disease. This encompasses assessing risks to offspring and addressing symptoms, making it the most comprehensive option.