Chapter 6: Genetics and Genomics in Nursing

A nurse is constructing a pedigree of a patient and family to establish a patient's risk for possible genetic disorders. The nurse demonstrates understanding of this process by obtaining information going back at least how many generations?

3

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.

The nurse collects family history information from a client with a genetic condition. In which way will the nurse use this information?

Create a pedigree for this client.

A group of students are reviewing information about X-linked inheritance. The students demonstrate the need for additional study when they identify which condition as an example of X-linked recessive inheritance?

Cystic fibrosis

A nurse is assessing a client with an autosomal-recessive inherited condition. When discussing the risk of transmission to the client's offspring, what teaching would the nurse include?

Each child has a 25% risk of inheriting the gene.

After teaching a class about the inheritance patterns of different conditions, the instructor determines that the teaching was successful when the students identify which of the following as resulting from multifactorial inheritance? Select all that apply.

Familial Alzheimer's disease Anencephaly Osteoarthritis Congenital heart defect

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 as part of a genetic counseling team. Which of the following tasks would the nurse most likely perform?

Identify the client's support systems.

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

The results of a patient's prenatal testing reveal aneuploidy in the fetus. The nurse incorporates understanding of this condition, identifying its association with which of the following?

Intellectual disability

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

The nurse is working with a 34-year-old client diagnosed with hypercholesterolemia. The client's father died from cardiovascular disease at age 50. When discussing the client's care with the genetic specialists, the nurse uses which term to refer to the manifestation of the disease?

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 nurse is assisting with newborn screening. For which condition would the nurse expect to screen? Select all that apply.

Phenylketonuria Galactosemia

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.

What target cultural population is a priority for the nurse to educate about prevention of hypertension?

African Americans

A client wants to prevent the development of diabetes, osteoarthritis, and high blood pressure because many family members have the conditions. Which response will the nurse state to this client?

"Although they are considered genetic disorders, environment factors can influence their development."

A client diagnosed with hereditary breast cancer learns that a younger sibling was just diagnosed with the same disease. Which education would the nurse provide based on this information?

"Cascade screening is recommended for other members of your family."

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."

The nurse discusses genetic testing with a client desiring to become pregnant. The client's spouse contacts the nurse inquiring about the discussion held while the nurse was providing care. How will the nurse respond to the spouse?

"I cannot share that information with you."

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 is concerned about developing a health condition because several people of the same ethnic background were recently diagnosed with it. Which response by the nurse is appropriate?

"Population screening would be an option to address your concerns."

The nurse is conducting a prenatal class for expectant parents on conception. The nurse provides additional teaching when a parent makes which statement?

"Reproductive cells are formed through mitosis."

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."

A nurse working in genetics teaches a client about autosomal dominant conditions. What will the nurse include in the teaching?

"These conditions follow a vertical pattern of inheritance."

A client with a rare genetic disease is asked to participate in a study to identify drugs specific to the condition. Which response will the nurse give when the client asks, "I don't even understand what they are talking about when they say 'pharmacogenomics. What should I do?"

"This study is a unique opportunity. Pharmacogenetics means they are studying how differences in one gene affect how someone responds to a medicine."

The nurse is caring for a client who is scheduled for single gene presymptomatic genetic testing. Which education will the nurse provide to this client?

"This test will diagnose Huntington disease if you have it."

A nurse is caring for a newborn diagnosed with phenylketonuria (PKU). The infant's mother asks the nurse, "How did my baby get this condition? It doesn't run in the family." What is the nurse's best response?

"You and your husband are carriers of the disease."

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 client of Jewish ancestry tells the nurse that she has the hereditary <i>BRCA1</i> breast cancer gene mutation. The client asks the nurse what her risk is for getting breast cancer. The nurse responds that the client's approximate risk for breast cancer is

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

A couple is considering starting a family but is concerned about the risk of Tay-Sachs disease. What cultural group does the nurse understand is most at risk for the disease?

Ashkenazi Jewish

A client with a strong family history of breast cancer refuses genetic testing for the condition. Which action will the nurse take to support this client's decision?

Assess the client's beliefs, values, and expectations.

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

When describing the process of mitosis to students, the instructor identifies this process as occurring in which type of cell? Select all that apply.

Blood cells Nerve cells Skin cells

A client is at risk for breast cancer. Which of the following would reflect the client's genotype for this disorder?

Carrier of BRCA1 mutation

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 in a genetics clinic is working with a young African American couple contemplating having children. Preconception screening should be conducted for which condition?

Cystic fibrosis

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

Nursing students are reviewing mendelian inheritance patterns and associated conditions. The students demonstrate understanding of this information when they identify which of the following as involving autosomal-recessive inheritance? Select all that apply.

Cystic fibrosis Sickle-cell anemia Gaucher's disease

Which genetic test would be used to detect cystic fibrosis?

DNA analysis

Nondisjunction of a chromosome results in which diagnosis?

Down syndrome

Which condition is an example of an X-linked recessive inheritance?

Duchenne muscular dystrophy

The nurse is conducting a community education program on genetics/genomics. The nurse determines that participants are understanding the information when the class states that the diagnostic test used to detect small chromosomal abnormalities and to characterize chromosomal rearrangements is

Fluorescent in situ hybridization (FISH)

A nursing instructor is preparing a class discussion about genes. Which of the following would be most appropriate for the instructor to include?

Genes are arranged linearly within chromosomes.

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.

A client is receiving targeted therapy for treatment of stage 2 breast cancer. The nurse explains to the client that this means that the therapy is matched/based on which factor?

Genetic signature of the tumor

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

A client is receiving the results of genetic testing. Which action(s) will the nurse perform to uphold ethical principles when providing counseling about the results of these tests? Select all that apply.

Listen attentively when the client discusses their beliefs and values. Report results truthfully in plain language that can be understood. Allow the client to make their own decisions about next steps in care. Remind the client that these results will not be shared without permission. Ensure counseling is performed in a private area without interruptions.

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.

A nurse is preparing a presentation for a community health fair about genetics and genetic disorders. Which of the following would the nurse be least likely to integrate into the presentation?

Most genetic disorders occur because of specific yet simple inheritance patterns.

A nurse is preparing a presentation for a local community group about familial Alzheimer's disease. As part of the presentation, the nurse is planning to discuss the possible genetic basis for this condition. The nurse would describe the inheritance as which of the following?

Multifactorial

A pregnant woman has undergone prenatal screening that has revealed evidence of congenital heart defect in the fetus. The nurse interprets this finding as indicative of which type of inheritance?

Multifactorial

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

A client requests genetic testing and counseling. Which action will the nurse complete before moving forward with the client's request?

Obtain informed consent from the client

A nursing student is preparing an oral presentation on cell division. Which of the following would the student include when describing meiosis? Select all that apply.

Occurs in the sex cells Results in haploid daughter cells Leads to a reduction in number of chromosomes

"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

Upon assessment, the nurse determines that all four children in a family are known to carry a gene for a particular condition. Two of the children actually manifest the condition. Which term should the nurse use to document the percentage of family members who manifest the condition?

Penetrance

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

The daughter of a patient with Huntington disease has requested that she be tested for the disease even though she has no symptoms at this time. What type of test does the nurse anticipate the physician will order?

Presymptomatic testing

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

The nurse is assessing a child with Turner syndrome. The nurse anticipates which finding?

Short stature

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

The nurse is preparing information about genetics for a staff development presentation. Which important genetic developments will the nurse include in this presentation? Select all that apply.

The Human Genome Project Pharmacogenetics Genetic Information Nondiscrimination Act (GINA) Epigenetics Genetics versus genomics

A child is diagnosed with Turner syndrome. When describing this genetic condition to the parents, which of the following would the nurse include?

The child will have fertility problems.

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 nursing instructor is preparing a class about genes and genetics. Which of the following would the instructor use to describe a person's genotype?

The person's full complement of genes

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.

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.

Thiamine Adenine Guanine Cytosine

Which of the following statements best reflects autosomal-recessive inherited conditions?

Transmission usually occurs horizontally in families.

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

Nursing students are reviewing legislation about the use of genetic information. The students demonstrate a need for additional review when they identify which of the following as being prohibited by the Genetic Information Nondiscrimination Act (GINA)?

Use of genetic information to establish insurance eligibility

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

A nurse is working with a client who is undergoing genetic testing. What would be the nurse's responsibilities with the health teaching? Select all that apply.

obtaining the client's family history advocating for confidentiality of the results educating the client about the testing procedures helping the client understand the complexity of genetic testing

The nurse is evaluating a client's drug blood concentration for a medication. The client is identified as a cytochrome P450 (CYP) ultrarapid metabolizer. The nurse anticipates that the client's drug blood concentration will be

subtherapeutic.