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What is important for the nurse to explain to the couple?
- A. Retinoblastoma is an autosomal recessive inheritance in which each parent carries the gene mutation.
- B. Retinoblastoma is an X-linked inheritance and all males inherit an X chromosome from their mothers.
- C. Retinoblastoma is an autosomal dominant inheritance that has incomplete penetrance and can skip a generation.
- D. Retinoblastoma is a pattern that is more horizontal than vertical; relatives of a single generation tend to have the condition.
Correct Answer: C
Rationale: Retinoblastoma is an autosomal dominant inheritance that has incomplete penetrance, and the gene appears to skip a generation, thus leading to errors in interpreting family history and in genetic counseling. Autosomal recessive conditions have a pattern that is more horizontal than vertical; relatives of a single generation tend to have the condition. X-linked conditions may be inherited in recessive or dominant patterns, but retinoblastoma is not X-linked.
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In this role, the nurse will aim to help individuals and families understand which of the following?
- A. How genetic and psychological factors influence coping
- B. How genomic and physical factors influence longevity
- C. How genetic and environmental factors influence health and disease
- D. How physical factors influence genetics and wellness
Correct Answer: C
Rationale: Nurses help individuals and families learn how genetic traits and conditions are passed on within families as well as how genetic and environmental factors influence health and disease. This is the primary focus of genetics nursing, not coping, longevity, or physical factors influencing genetics.
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 should the nurse do?
- A. Inform the patients they need to sign so the testing can be done
- B. Inform the geneticist that the couple cannot give informed consent
- C. Let the wife translate the form for her husband
- D. Explain the form to the patient in simple English and have him sign it
Correct Answer: B
Rationale: Nurses assess the patient's capacity and ability to give voluntary consent. Language differences prevent the husband from giving informed consent without a translator. Having the wife translate or explaining in simple English does not ensure accurate understanding, and signing without comprehension is unethical.
According to this legislation, insurers may use genetics testing as a justification for what action?
- A. Denying the patient health insurance
- B. Charging the patient higher insurance premiums
- C. Requiring the patient to enroll in Medicaid
- D. Requiring the patient to carry out a health promotion plan
Correct Answer: B
Rationale: HIPAA prohibits the use of genetics information to establish insurance eligibility. However, it does not prohibit group plans from increasing premiums, excluding coverage for a specific condition, or imposing a lifetime cap on benefits. Mandating Medicaid enrollment or health promotion plans is not allowed.
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.