Chapter 8
A nurse is obtaining health history from a client with a genetic disorder. Which of the following would be most appropriate for the nurse to establish the pattern of inheritance?
Construct a pedigree of the client's family.
A patient has an autosomal recessive inherited condition. For what type of disorder does the nurse anticipate the patient will be treated?
Cystic fibrosis
A nurse is working with a couple who will be undergoing genetic testing. Which of the following would the nurse prepare the couple for as the first genetic test?
Family history
A nurse is working with a client who is undergoing genetic testing. The nurse would least likely be responsible for which of the following?
Informing the client about the testing results
A nurse is assisting with screening of specific ethnic groups to identify possible cancer-predisposing genes. The nurse is engaged in which of the following?
Population screening
A newborn infant's mother requests more information on how the infant has red hair when only a "few" individuals in the family has this trait. What term does the nurse understand the client is speaking about?
Phenotype
While assessing a client, the nurse notes that the client has numerous freckles on his skin. The nurse interprets this finding as which of the following?
Phenotype
The nurse working in the labor and delivery unit prepares to test for which condition as a part normal newborn screening?
Phenylketonuria
Which condition is tested for as a part of normal newborn screening?
Phenylketonuria
A female client is a carrier for a gene mutation on one of her X chromosomes. Her spouse is unaffected. The nurse understands that which of the following is most likely?
The client's sons have a 50% chance of being affected.
A couple considering starting a family is told that they are both carriers for thalassemia. What does the nurse tell them is the risk that their child will inherit the gene?
25%
A nurse is caring for a pediatric client with cystic fibrosis (CF). When providing teaching to the client's parents, what statement will the nurse include?
"Each sibling of your child has a 1 in 4 chance of acquiring CF."
A nurse is caring for a client with a genetic disorder. The client tells the nurse, "I'm scared I'm going to lose my insurance if they find out I have this disease." What is the nurse's best response?
"HIPAA prohibits the use of genetic information for insurance eligibility."
A female client discovers that she has the BRCA1 breast cancer gene. The client asks the nurse if she will get breast cancer. What is the nurse's best response?
"It is not 100% that you will get breast cancer."
A client has an autosomal-dominant disorder. His wife is unaffected. When explaining the risk for inheritance of the disorder in their offspring, which statement by the nurse would be most appropriate?
"There is a 50% chance that each of your children will have the condition."
The parent of a male child with Duchenne muscular dystrophy asks the nurse what it means that the condition is an X-linked recessive disease. How should the nurse respond?
"You were a carrier and didn't know it."
A nurse is obtaining a genetic family history of a client. The nurse collects information about family members going back at least how many generations?
3
A patient understands that her diagnosis of ovarian cancer syndrome is an autosomal-dominant inherited condition. What is the chance that her daughter will inherit the gene mutation for this disease?
50%
A 32-year-old patient has just been told that she has the BRCA1 hereditary breast cancer gene mutation. What is her risk of developing cancer by the age of 65 years?
80%
A nurse is working in a clinic that offers genetic testing. Which client is most likely to require genetic testing related to being a possible cystic fibrosis carrier?
A client whose mother and father both immigrated from Norway
A nurse is reviewing the medical record of a patient who has just learned that she is pregnant. Which of the following would the nurse identify as being least likely to indicate a need for a genetic evaluation referral?
Age 33 years at expected delivery
The nurse is reading the chart of a new client at the genetics clinic. The chart notes that the client, her brother, and her mother all have inherited a particular condition. The nurse plans care for a condition with which type of inheritance pattern?
Autosomal dominant
Which type of Mendelian inherited condition results in both genders being affected equally in a vertical pattern?
Autosomal dominant inheritance
Cystic fibrosis is a condition passed on through which type of inheritance?
Autosomal recessive
The nurse is planning an educational program on cystic fibrosis. The nurse should include information explaining that cystic fibrosis is an example of which type of inherited conditions?
Autosomal recessive
A nurse working as part of a genetics counseling team is preparing a presentation for a career day discussion at a local college of nursing. When describing the genomic framework for nursing, which of the following would the nurse include as being most important?
Being keenly aware of one's own attitudes and assumptions about genetics and genomics
The nurse is providing client education to a pregnant woman regarding genetic testing for Down syndrome. The nurse determines that the client understands the teaching when the client states that diagnostic testing for Down syndrome includes which test?
Chromosomal analysis
The nurse is working with a 40-year-old pregnant woman about to undergo amniocentesis. The nurse provides appropriate education by stating that amniocentesis is performed for a prenatal diagnosis of which condition?
Cystic fibrosis
Students are reviewing the structure of DNA in preparation for a class test tomorrow. They demonstrate understanding of this information when they identify which of the following as a nitrogenous base found in DNA? Select all that apply.
Cytosine Adenine Thiamine Guanine
Nondisjunction of a chromosome results in which diagnosis?
Down syndrome
Which diagnostic test is useful in detecting small chromosomal abnormalities and characterizing chromosomal rearrangements?
Fluorescent in situ hybridization (FISH)
Which of the following best reflects the interpretation of the Health Insurance Portability and Accountability Act (HIPAA) and genetic information.
Genetic information cannot be used to establish insurance eligibility.
Which of the following is associated in a client with poor metabolism based on a person's CYP genotype and drug response?
Greater risk for toxicity
After teaching nursing students about autosomal-dominant and autosomal-recessive inherited disorders, the instructor determines that the teaching was successful when the class identifies which of the following as true about autosomal-dominant inherited conditions?
Males and females are equally affected by this pattern of inheritance.
The nurse is reviewing the chart of a client who was diagnosed with a cleft lip and palate at birth. The nurse demonstrates understanding of this disorder, identifying it as involving which type of inheritance pattern?
Multifactorial
A client's history reveals evidence of a trisomy. The nurse interprets this as resulting from which of the following?
Nondisjunction
"What is a characteristic of the genomic era of personalized medicine's impact on health care?"
Optimization of risk reduction related to genetic predisposition
Which is the first step in establishing a pattern of inheritance?
Pedigree
A group of nursing students are reviewing information about issues associated with genetic counseling throughout the lifespan. The students demonstrate understanding of the issues when they identify which of the following as an issue related to the newborn period?
Potential for disrupted bonding
Parents request that a test be done to determine if the fetus has Down syndrome. What type of test does the nurse anticipate the physician will order?
Prenatal screening
A nurse is conducting the psychosocial portion of a genetics health assessment. Which of the following would the nurse expect to include? Select all that apply.
Previous coping mechanisms Educational level of members Family rules about information disclosure Ability to make an informed decision
To ensure ethical nursing care when dealing with genetic and genomic information, which principle would the nurse integrate as the foundation for all nursing care?
Respect for people
After assessing a client's family history, the nurse determines the need for a genetic referral based on which of the following?
Several relatives diagnosed with colon cancer
A nurse is assessing a couple of Ashkenazi Jewish descent. The nurse understands that carrier testing for which condition would be least appropriate for this couple?
Sickle-cell disease
A newborn has been diagnosed with cleft lip and cleft palate. The parents ask, "How did this happen?" The nurse would incorporate an understanding of which of the following when responding to the parents?
The conditions result from multiple gene mutations and environmental influences.
A patient has been identified as a poor metabolizer for a drug that undergoes CYP 450 metabolism. The nurse interprets this information as indicating which of the following?
The patient is at increased risk for toxicity.
A nurse working at a clinic interprets which treatment plan as a sign that clinic has transitioned to a genomic approach to personalized medicine?
Treatment of underlying genetic causes of disease
The nurse is conducting a community education class on genetics and genomics. The nurse explains that a chromosomal difference that involves an extra or missing chromosome is known as
aneuploidy.
The nurse is conducting an educational program for unlicensed personnel on the Health Insurance Portability and Accountability Act (HIPAA) of 1996. The nurse determines that the unlicensed personnel understand HIPAA when they state that it prohibits
the use of genetic information to establish insurance eligibility.
The aim of genomic medicine is
to improve predictions about individuals' susceptibility to diseases.