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What is the nurses best rationale for this?
- A. Genetic screening is a way to determine the rate of infectious disease in babies during this vulnerable time in their lives.
- B. It is important to screen newborns to determine their future cancer risk and appraise the quality of prenatal care they received.
- C. This is a way to assess your infants risk for illnesses called phenylketonuria (PKU), congenital hypothyroidism, and galactosemia.
- D. This testing is required and you will not be able to refuse it. It usually is free so there is no reason to refuse it.
Correct Answer: C
Rationale: The first aim of genetic testing is to improve management, that is, identify people with treatable genetic conditions that could prove dangerous to their health if left untreated. Genetic screening for PKU, congenital hypothyroidism, and galactosemia allows early intervention. It does not assess infectious disease rates or future cancer risk, and while mandatory, the rationale should focus on the health benefits, not just compliance.
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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 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.
Which of the following actions is most consistent with this role?
- A. Planning treatment modalities for diseases that have patterns of inheritance
- B. Processing tissue samples to obtain genetic information
- C. Choosing options for patients after genetic testing has been completed
- D. Informing patients about the ethics of genetics and genomic concepts
Correct Answer: D
Rationale: Nurses inform patients about genetics and genomic concepts, including ethical considerations, and value the privacy and confidentiality of such information. Nurses do not typically plan medical treatments, process tissue samples, or make choices for patients.
The nurse knows that with this gene mutation, the patient will experience symptoms of what?
- A. Peripheral and pulmonary edema
- B. Thrombotic organ damage
- C. Metastasis of a glioblastoma
- D. Amyotrophic lateral sclerosis
Correct Answer: B
Rationale: Sickle cell anemia is an example of a genetic condition caused by a small gene mutation that affects protein structure, producing hemoglobin S. A person who inherits two copies of the hemoglobin S gene mutation has sickle cell anemia and experiences the symptoms of severe anemia and thrombotic organ damage resulting in hypoxia. Amyotrophic lateral sclerosis is a neurodegenerative disease that can occur as a result of an inherited mutation, but not a mutation of hemoglobin S. The patient with sickle cell anemia may experience edema, but it would not be related to the gene mutation.
What sign should the nurse instruct the woman to look for in the new baby?
- A. Increased urination
- B. Projectile vomiting
- C. Caf-au-lait spots
- D. Xanthoma
Correct Answer: C
Rationale: Physical assessment may provide clues that a particular genetic condition is present. For neurofibromatosis type 1, skin findings like caf-au-lait spots are a key indicator. Increased urination might suggest diabetes, projectile vomiting could indicate pyloric stenosis, and xanthomas are associated with hyperlipidemia, not neurofibromatosis.