What legislation has as its purpose to protect Americans against improper use of genetic and genomic information?
- A. Genetic Information Nondiscrimination Act
- B. Genetic Confidentiality Agreement
- C. The White Paper on Genetic Testing Results
- D. Genetic Equity Act
Correct Answer: A
Rationale: The Genetic Information Nondiscrimination Act (GINA), signed into law in 2008, protects Americans against improper use of genetic and genomic information in insurance and employment decisions. The other options do not exist.
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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.
This nurse has consequently completed the first step in what process?
- A. Establishing the pattern of inheritance
- B. Influencing the clients genetic future
- C. Answering the clients genetic questions
- D. Answering the clients relational questions
Correct Answer: A
Rationale: Nursing assessment of the patient's health includes obtaining and recording family history information in the form of a pedigree. This is a first step in establishing the pattern of inheritance. It does not directly answer questions or influence genetic outcomes.
What will the nurse understand about the childrens possibility of inheriting the gene for the disease?
- A. Each child will have a 25% chance of inheriting the disease.
- B. Each child will have a 50% chance of inheriting the disease.
- C. Each child will have a 75% chance of inheriting the disease.
- D. Each child will have no chance of inheriting the disease.
Correct Answer: B
Rationale: Huntington disease is an autosomal dominant disorder. Autosomal dominant inherited conditions affect female and male family members equally and follow a vertical pattern of inheritance in families. A person who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome pair. Each of that persons offspring has a 50% chance of inheriting the gene mutation for the condition and a 50% chance of inheriting the normal version of the gene.
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 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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