Nokea
What is nursings unique contribution to genomic medicine?
- A. Its physical assessment capabilities
- B. Its holistic perspective
- C. Its biopsychologic focus
- D. Its evaluation capabilities
Correct Answer: B
Rationale: The unique contribution of nursing to genomic medicine is its holistic perspective that takes into account each person's intellectual, physical, spiritual, social, cultural, biopsychologic, ethical, and esthetic experiences. This holistic approach is unique compared to other disciplines.
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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.
For what health problem would a patient of African American heritage most likely have genetic carrier testing?
- A. Meckels diverticulum
- B. Sickle cell anemia
- C. Huntington disease
- D. Rubella
Correct Answer: B
Rationale: Assessing ancestry and ethnicity is important to help identify individuals who could benefit from genetic testing for carrier identification, such as African Americans routinely offered testing for sickle cell anemia. The other conditions are not specifically associated with African American heritage.
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.
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.
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.