Brunner- Chap 8 Genomics

A patient comes to the clinic for genetic testing. The nurse asks the patient to sign consent forms to obtain the patient's medical records. The patient wants to know why the geneticist needs their old medical records. What is the nurse's best response?

"Your medical information is needed so we can provide the appropriate information and counseling to you."

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?

Retinoblastoma is an autosomal dominant inheritance that has incomplete penetrance and can skip a generation.

For what health problem would a patient of African American heritage most likely have genetic carrier testing?

Sickle cell anemia

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?

The patient has a nondisjunction occurring during meiosis

A pregnant woman has a child at home who has been diagnosed with neurofibromatosis 1. She asks the nurse what she should look for in her new baby that would indicate that it also has neurofibromatosis 1. What sign should the nurse instruct the woman to look for in the new baby?

Café-au-lait spots

A couple have come to the genetics clinic for their first visit. In taking their history, the nurse learns that they are both Ashkenazi Jews. For what health problem would this couple be genetically screened?

Canavan disease

A woman with both heart disease and osteoarthritis has come to the genetics clinic for genetic screening. What would the nurse know about these two diseases?

They are multifactorial.

In your role as the nurse at a genetics clinic, you are reviewing the health and genetic history of a woman whose mother died of breast cancer. Which of the following is the most important factor documented in the patient's genetic history?

Three generations of information about the family

An adult patient has undergone genetic testing and the results reveal a genetic mutation that allows clinicians to make accurate predictions about disease onset and progression. This model for presymptomatic testing is most likely being used to address what disease?

Huntington disease

A Spanish-speaking couple comes in for genetic testing. They are planning to start a family and are concerned because the wife's sister has cystic fibrosis. The clinic's 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?

Inform the geneticist that the couple cannot give informed consent

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?

Informing patients about the ethics of genetics and genomic concepts

A 46-year-old man, estranged from his siblings, has begun showing signs of dementia and has been diagnosed with Alzheimer's disease. The nurse tells him how important it is that he inform his siblings of his disease. He refuses stating, "I don't want them to know. Let them find out on their own." What should the nurse do?

Instruct the patient on the importance of notifying the siblings and keep his information confidential.

A couple wants to start a family and they are concerned that their child will be at risk for cystic fibrosis because they each have a cousin with cystic fibrosis. What should the nurse practitioner tell them about cystic fibrosis?

It is an autosomal recessive disorder.

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

Its holistic perspective

Three sisters decide to have genetic testing done because their mother and their maternal grandmother died of breast cancer. Each of the sisters has the BRCA1 gene mutation. The nurse explains that just because they have the gene does not necessarily mean that they will develop breast cancer. On what does the nurse explain their chances of developing breast cancer depend?

Penetrance

The occupational health nurse is conducting yearly health screenings. A 50-year-old man states, "My father had colon cancer, but I really don't understand why that means that I need a colonoscopy." What could the nurse do to disseminate information about screening to more individuals?

Plan a health fair for the employees that provides information about screening for diseases that have an inheritance pattern.

A 40-year-old man who has been separated from his father since early childhood tells the nurse that his father recently contacted him to inform him that he is dying of Huntington disease. What is an essential component of care for this patient?

Provide genetic counseling, evaluation, and testing for the disease

A nurse is participating in genetic counseling for a couple who are considering trying to conceive. After the couple receives the results of genetic testing, the nurse should prioritize which of the following?

Psychosocial support

To explain the concept of autosomal recessive inheritance, a nurse is using the example of two parents with two recessive genes each for six toes. What is the chance that this couple will have a child with six toes?

25%

A woman has come to the clinic for her first prenatal visit after becoming pregnant for the first time. She asks the nurse about age guidelines for genetic counseling and prenatal testing. The nurse informs the patient that genetic counseling and prenatal testing should be performed for all pregnant women in which age group?

35 and older

During the admission assessment, the nurse notes many café-au-lait spots on the patient's trunk, back, neck, and legs and suspects that the patient has neurofibromatosis. Based on the nurse's knowledge of neurofibromatosis, the nurse understands that a single family member has which of the following?

A spontaneous mutation

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?

Alzheimer's disease

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?

Charging the patient higher insurance premiums

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.

Gathering family histories and health histories and Performing comprehensive physical assessments

Genetics-related health care is a component of holistic nursing practice. What action should a nurse who practices in the area of genetics prioritize?

Gathering relevant family and medical history information

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?

How genetic and environmental factors influence health and disease

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?

The family history

The nurse reviews a patient's chart and notes that the patient has a gene mutation that affects protein structure, producing hemoglobin S. The nurse knows that with this gene mutation, the patient will experience symptoms of what?

Thrombotic organ damage

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 fiancé and family members not be told of this finding. What is the nurse's best response?

"I will respect your wishes and keep your information confidential. I do wish you would reconsider though."

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 nurse's best rationale for this?

"This is a way to assess your infant's risk for illnesses called phenylketonuria (PKU), congenital hypothyroidism, and galactosemia."

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 couple's follow-up counseling, the nurse should recognize what implication of this assessment finding?

There is a 25% chance that a child of the couple would have sickle cell disease.

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 she's the type of person who'd rather not know about future risks until they come true." Based on the husband's statement, what nursing diagnosis most likely applies to the wife?

Anxiety related to possible results of genetic testing

A nurse is participating in the assessment portion of a couple's genetic screening and testing. Early in the assessment of the couple's family history, the nurse learns that the husband's father and the wife's father are brothers. The nurse recognizes that this greatly increases the couple's risk of what health problems?

Diseases with autosomal recessive inheritance

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 children's possibility of inheriting the gene for the disease?

Each child will have a 50% chance of inheriting the disease.

While the nurse is taking the patient's 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 patient's history, what recommendation should the nurse make at the present time?

Encourage her explore the possibility of chromosome testing studies

A nurse who practices in a clinic that provides genetic counseling has obtained a client's family history. This nurse has consequently completed the first step in what process?

Establishing the pattern of inheritance

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?

Genetic Information Nondiscrimination Act

A 47-year-old patient with osteoarthritis and hypertension is diagnosed with breast cancer. She tells the nurse that her mother also suffered from osteoarthritis and hypertension, and she developed breast cancer at the age of 51 years. The nurse should recognize that this patient's health status may be the result of what phenomenon?

Multifactorial inheritance

You are the nurse documenting the family history of an 81-year-old female patient newly diagnosed with Alzheimer's disease. What knowledge would influence your nursing considerations for genetic testing?

The genetic bases of adult-onset conditions such as Alzheimer's disease

A nurse is providing care for a young couple who wish to start a family. In response to one of the couple's questions, the nurse is describing the concept of personalized medicine. To explain this concept adequately, the nurse must understand which of the following?

The new technologies and treatments of genetic- and genomic-based health care