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.
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When performing an assessment in this care setting, the nurse would focus on what areas of assessment? Select all that apply.
- A. Assessing patients personality strengths and weaknesses
- B. Performing assessments of patients patterns of behavior
- C. Assessing the genetic characteristics of patients blood samples
- D. Gathering family histories and health histories
- E. Performing comprehensive physical assessments
Correct Answer: D,E
Rationale: Nurses obtain genetics information by gathering family and health histories and conducting physical and developmental assessments. Behavior, personality, and blood sample analysis are not typically part of the nurse's role in this context.
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 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.
Based on the nurses knowledge of neurofibromatosis, the nurse understands that a single family member has which of the following?
- A. A spontaneous mutation
- B. A germline mutation
- C. A nondisjunction
- D. A monosomy
Correct Answer: A
Rationale: Spontaneous mutations take place in individual oocytes or sperm at the time of conception. These mutations are not inherited in other family members. However, a person who carries the new spontaneous mutation may pass on the mutation to his or her children. Achondroplasia, Marfan syndrome, and neurofibromatosis type 1 are examples of genetic conditions that may occur in a single family member as a result of spontaneous mutation. Germline mutations are passed on to all daughter cells when body cells replicate. Nondisjunction and monosomy are related to chromosomal abnormalities, not single gene mutations like neurofibromatosis.
What is an essential component of care for this patient?
- A. Assist the patient in determining signs of neuromuscular weakness
- B. Instruct the man on treatment options for Huntington disease
- C. Teach the man how to avoid passing Huntington disease to his own children
- D. Provide genetic counseling, evaluation, and testing for the disease
Correct Answer: D
Rationale: The provision of genetic counseling, evaluation, and testing for the disease is essential in care, especially given the family history of Huntington disease. This encompasses assessing risks to offspring and addressing symptoms, making it the most comprehensive option.
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