What is this foundational genetic test?
- A. The developmental assessment
- B. The family history
- C. The physical assessment
- D. The psychosocial assessment
Correct Answer: B
Rationale: The family history is considered the first genetic test. It is expected that all nurses will know how to use this genetic tool to assess potential genetic risks and patterns of inheritance.
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When planning this couples follow-up counseling, the nurse should recognize what implication of this assessment finding?
- A. There is a 25% chance that a child of the couple would have sickle cell disease.
- B. The man and woman each have an increased risk of developing sickle cell disease later in life.
- C. There is 50% risk of sickle cell disease for each of the couples children.
- D. Their childrens risk of sickle cell disease will depend on a combination of genetics and lifestyle factors.
Correct Answer: A
Rationale: Sickle cell anemia follows an autosomal recessive pattern of inheritance. When carriers have children together, there is a 25% chance that each child may inherit the gene mutation from both parents and have the condition. Carriers do not develop the disease, and lifestyle factors do not directly influence this mendelian inheritance pattern.
What should the nurse practitioner tell them about cystic fibrosis?
- A. It is an autosomal dominant disorder.
- B. It is passed by mitochondrial inheritance.
- C. It is an X-linked inherited disorder.
- D. It is an autosomal recessive disorder.
Correct Answer: D
Rationale: Cystic fibrosis is autosomal recessive. People who are related have more genes in common than those who are unrelated, thus increasing their chance for having children with autosomal recessive conditions like cystic fibrosis if both are carriers. It is not autosomal dominant, mitochondrial, or X-linked.
The nurse should recognize that this patients health status may be the result of what phenomenon?
- A. X-linked inheritance
- B. Autosomal recessive inheritance
- C. Autosomal dominant inheritance
- D. Multifactorial inheritance
Correct Answer: D
Rationale: Many birth defects and common health conditions, such as heart disease, high blood pressure, cancer, osteoarthritis, and diabetes, occur as a result of interactions of multiple gene mutations and environmental influences. Thus, they are called multifactorial or complex conditions. X-linked, autosomal recessive, and autosomal dominant conditions are caused by single gene mutations, not multiple gene interactions.
What knowledge would influence your nursing considerations for genetic testing?
- A. What genetic tests predict the patients husbands risk of Alzheimers disease
- B. What actions the geneticist has recommended for treating the disease
- C. The genetic bases of adult-onset conditions such as Alzheimers disease
- D. Whether any of the patients peers have Alzheimers disease
Correct Answer: C
Rationale: Knowledge of adult-onset conditions and their genetic bases (i.e., mendelian versus multifactorial conditions) influences the nursing considerations for genetic testing and health promotion. The husband's risk or peers' conditions are not relevant, and geneticists do not typically make treatment recommendations.
On what does the nurse explain their chances of developing breast cancer depend?
- A. Sensitivity
- B. Conductivity
- C. Penetrance
- D. Susceptibility
Correct Answer: C
Rationale: A woman who has the BRCA1 hereditary breast cancer gene mutation has a lifetime risk of breast cancer that can be as high as 80%, not 100%. This quality, known as incomplete penetrance, indicates the probability that a given gene will produce disease. Sensitivity, conductivity, and susceptibility are not relevant terms in this context.
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