Nokea
A nurse teaches clients about patterns of inheritance for genetic disorders among adults. Which disorders have an autosomal dominant pattern of inheritance? (Select all that apply.)
- A. Breast cancer
- B. Alzheimer's disease
- C. Hemophilia
- D. Huntington disease
- E. Marfan syndrome
- F. Cystic fibrosis
Correct Answer: A,D,E
Rationale: Breast cancer (via BRCA1/2 mutations), Huntington disease, and Marfan syndrome are autosomal dominant. Alzheimer's has complex inheritance, hemophilia is X-linked recessive, and cystic fibrosis is autosomal recessive.
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A nurse consults a genetic counselor for a client whose mother has Huntington disease and is considering genetic testing. The client states, 'I know I want this test. Why do I need to see a counselor?' How should the nurse respond?
- A. The advanced practice nurse will advise you on whether you should have children or adopt.
- B. Genetic testing can be a stressful experience. Counseling can provide support and education throughout the process.
- C. There is no cure for this disease. The counselor will determine if there is any benefit to genetic testing.
- D. Genetic testing is expensive. The counselor will advocate for you and help you obtain financial support.
Correct Answer: B
Rationale: Genetic counseling provides education about the implications of testing, emotional support, and helps clients make informed decisions. It does not focus on advising about having children, determining testing benefits, or securing financial support.
A client who tests positive for a mutation in the BRCA1 gene allele asks a nurse to be present when she discloses this information to her adult daughter. How should the nurse respond?
- A. I will request a genetic counselor who is more qualified to be present for this conversation.
- B. The test results can be confusing I will help you interpret them for your daughter.
- C. The test results can be confusing I will help you interpret them for your daughter.
- D. This conversation may be difficult for both of you I will be there to provide support.
Correct Answer: D
Rationale: The nurse's role is to provide emotional support during such discussions, not to interpret results or counsel, which is the role of a genetic counselor. Offering support respects the client's needs and facilitates a sensitive conversation.
A health care provider prescribes genetic testing for a client who has a family history of colorectal cancer. Which action should the nurse take before scheduling the client for the procedure?
- A. Confirm that informed consent was obtained and placed on the clients chart.
- B. Provide genetic counseling to the client and the clients family members.
- C. Provide genetic counseling to the client and the clients family members.
- D. Respect the clients right not to share the results of the genetic test.
Correct Answer: A
Rationale: Informed consent is a legal and ethical requirement before genetic testing to ensure the client understands the procedure, risks, and implications. Providing counseling or respecting confidentiality are important but secondary to confirming consent.
A nurse is educating a client about genetic screening. The client asks why red-green color blindness, an X-linked recessive disorder noted in some of her family members, is expressed more frequently in males than females. How should the nurse respond?
- A. Females have a decreased penetrance rate for this gene mutation and are therefore less likely to express the traits.
- B. Females have two X-chromosomes and one is always inactive. This inactivity decreases the effect of the gene.
- C. The incidence of X-linked recessive disorders is higher in males because they do not have a second X chromosome to balance expression of the gene.
- D. Males have only one X-chromosomes, which allows two X-linked recessive disorder to be transmitted from father to son.
Correct Answer: C
Rationale: Males have one X and one Y chromosome, so a single recessive allele on their X chromosome will express the disorder, as they lack a second X chromosome to potentially mask it. Females, with two X chromosomes, need both alleles to be recessive to express the disorder, making it less common in females.
A nurse cares for an adult client who has received genetic testing. The clients mother asks to receive the results. How should the nurse respond?
- A. Obtain a signed consent from the client allowing test results to be released to the mother.
- B. Invite the mother and other family members to participate in genetic counseling with the client.
- C. Encourage the mother to undergo genetic testing to determine if she has the same mutation.
- D. Direct the mother to speak with the client and support the clients decision to share or not to share the results.
Correct Answer: D
Rationale: Client confidentiality is paramount, and only the client can decide to share genetic test results. The nurse should direct the mother to discuss with the client, respecting the client's autonomy and privacy.