Exam 8: Overview of Genetics and Genomics in Nursing

A nurse has begun a new role in a clinic that focuses on genetics and genomics. In this role, the nurse will aim to help individuals and families understand which of the following?

A baby is born with what the physician believes is a diagnosis of trisomy 21 . This means that the infant has three number 21 chromosomes. What factor describes the etiology of this genetic change?

While the nurse is taking the patients history, the patient tells the nurse she is trying to get pregnant and she is very fearful she will have another miscarriage. She states she has lost two pregnancies and she shares with the nurse that she does not know why she lost the babies. Based on this patients history, what recommendation should the nurse make at the present time?

The nurse reviews a patients chart and notes that the patient has a gene mutation that affects protein structure, producing hemoglobin $\mathrm{S}$ . The nurse knows that with this gene mutation, the patient will experience symptoms of what?

Regardless of the setting in which they provide care, nurses are expected to know how to use the first genetic test. What is this foundational genetic test?

A young woman and her husband want to start a family. The young woman explains to the nurse that she had a retinoblastoma as a child. The woman and her husband are concerned about the chances of their son or daughter developing a retinoblastoma. What is important for the nurse to explain to the couple?

A nurse who works in a hospital clinic is describing ways of integrating genetics and genomics into nursing practice. Which of the following actions is most consistent with this role?

A 46-year-old man, estranged from his siblings, has begun showing signs of dementia and has been diagnosed with Alzheimers disease. The nurse tells him how important it is that he inform his siblings of his disease. He refuses stating, I dont want them to know. Let them find out on their own. What should the nurse do?

A nurse is working with a young adult patient who underwent genetic testing that revealed her high risk for developing Huntington disease later in life. The patient is deeply concerned about how this may affect her future prospects for obtaining and maintaining adequate health insurance. In response, the nurse has referred to the Health Insurance Portability and Accountability Act (HIPAA). According to this legislation, insurers may use genetics testing as a justification for what action?

A 45-year-old man has just been diagnosed with Huntington disease. He and his wife are concerned about their four children. What will the nurse understand about the childrens possibility of inheriting the gene for the disease?

Genetic testing reveals that an African American man and woman who are engaged to be married are both carriers of the gene that causes sickle cell disease. When planning this couples follow-up Counseling, the nurse should recognize what implication of this assessment finding?

A patient is devastated by the results of his genetic testing, stating, How am I ever going to get health insurance with these kinds of risks? What legislation has as its purpose to protect Americans against improper use of genetic and genomic information?

A perinatal nurse is providing care for a primiparous woman who gave birth to a healthy infant yesterday. The nurse explains to the patient the genetic screening that is mandated. What is the nurses best rationale for this?

The nurse in the genetics clinic is conducting an assessment of a young man and woman who have been referred to the clinic. When performing an assessment in this care setting, the nurse would focus on what areas of assessment? Select all that apply.

A Spanish-speaking couple comes in for genetic testing. They are planning to start a family and are concerned because the wifes sister has cystic fibrosis. The clinics consent form is in English, which the wife is able to read. However, the husband can speak and read only Spanish. The nurse does not speak Spanish. What should the nurse do?

A newly married couple have presented to a genetics clinic for testing. The husband tells the nurse, It took me weeks to convince her to do this. I know that shes the type of person whod rather not know about future risks until they come true. Based on the husbands statement, what nursing diagnosis most likely applies to the wife?

A nurse is a part of an interdisciplinary team in a clinic that provides genetic screening and genetic counseling. What is nursings unique contribution to genomic medicine?

A 50-year-old woman presents at the clinic with complaints of recent episodes of forgetfulness and jerky head movements. She states her mother had some kind of illness in which she had to be institutionalized at age 42 and passed away at age 45 . She stated, My mother forgot who we were when she was institutionalized. Based on this information, what does the nurse suspect?

The occupational health nurse is conducting yearly health screenings. A 50-year-old man states, My father had colon cancer, but I really dont understand why that means that I need a colonoscopy. What could the nurse do to disseminate information about screening to more individuals?

Results of genetic testing have come back and the patient has just been told she carries the gene for Huntington disease. The patient asks you if this information is confidential and if it will remain that way. She is adamant that her fianc and family members not be told of this finding. What is the nurses best response?