Genetics

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."

single gene disorders

- one set of alleles -transmitted to subsequent generations - examples: color blindness, cystic fibrosis, phenylketonuria (pku) -recessive both parents - genders of children effected equally

A client has hypercholesterolemia. The nurse understands that which of the following reflects the phenotype of the disease? Select all that apply.

-Early onset of cardiovascular disease -Skin xanthoma -Family history of heart disease

After completing a history and physical assessment of a client who has just found out that she is pregnant, the nurse determines the need for a referral for a genetic evaluation based on which of the following? Select all that apply.

-History of diabetes -Brother with intellectual disability -Two previous unexplained miscarriages

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%

The nurse is educating a client, who is a carrier of factor VIII hemophilia, about transmission of the gene mutation and condition to the client's children. The nurse determines that further education is needed when the client makes which statement?

A male child with the gene mutation would not exhibit symptoms.

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

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 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 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 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 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 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

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

While caring for a client, the client asks the nurse what the nurse's opinion is on genetic testing. When responding to the client, what concept will the nurse use as guidance?

Client self-determination

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

Which genetic test would be used to detect cystic fibrosis?

DNA analysis

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)

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.

"What is a characteristic of the genomic era of personalized medicine's impact on health care?"

Optimization of risk reduction related to genetic predisposition

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 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

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 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.

Girls with Turner Syndrome will usually exhibit

short (stature)

A patient has an autosomal recessive inherited condition. For what type of disorder does the nurse anticipate the patient will be treated?

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

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 what?

multifactorial

definition of genomics

study of all the genes in the human genome together, including their interactions with each other, the environment, and the influences of psychosocial and cultural factors

definition of genetics

study of individual genes and their impact on relatively rare single gene disorders

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.

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

When describing meiosis to a group of students, which of the following would be most appropriate to include?

It occurs in the reproductive cells of the body.

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

After teaching a class about genetic disorders, the instructor determines that the teaching was successful when the class identifies severe combined immunodeficiency as an example of which type of inheritance?

X-linked recessive

How many pairs of chromosomes does each person have in each cell?

23

A nurse teaches a patient about autosomal-dominant conditions. What should the nurse include in the teaching?

"These conditions follow a vertical pattern of inheritance."

A nurse is preparing a presentation for a nursing conference about personalized medicine. Which of the following would the nurse include when describing this topic? Select all that apply.

-Genetic predisposition as key to risk reduction -Interaction of genes with the environment -Individualized approach based on person's and disease's genomic profile

A nurse is assessing a patient's ability to give informed voluntary consent for genetic testing. Which of the following would the nurse identify as interfering with this ability? Select all that apply.

-Language barrier -Cognitive deficits -Opioid analgesic use -Hearing deficits

As part of a class assignment, a nursing student is to give an oral presentation about autosomal-dominant inherited conditions. Which of the following would the student include? Select all that apply.

-Males and females as equally affected -Variable expression among family members -Reduced penetrance with some conditions

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

X-linked recessive

-allele carried on x chromosome -heterozygous females are carriers -manifested in heterozygous males -inheritance may skip generations -example: Duchene muscular dystrophy, classic hemophilia

X-linked dominant

-heterozygous males and females effected -fragile X syndrome: cognitive deficits -mutations causes the affected x chromosome to appear constricted or broken on karyotype

autosomal dominant disorders

-inheritance of one allele -one parent carries -no carriers -disorders: adult polycystic kidney disorder, hunting's disease, marfan syndrome -unaffected person do not transmit disorder

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%

Which type of genetic test would be used to detect the possibility of Down syndrome?

Chromosomal analysis

Which is the first step in establishing a pattern of inheritance?

Pedigree

During a class, a student asks the instructor, "I read something that said that in some conditions, the presence of a gene mutation may not actually lead the person to actually show the trait. How can this be?" The instructor interprets the student's statement as reflecting which of the following?

Penetrance

A patient's history reveals that the patient's father has Huntington's disease. Based on this information, the nurse would most likely prepare the patient for which of the following?

Presymptomatic testing

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

When assisting with genetic counseling, which of the following would be most important for the nurse to do first?

Recognizing the effect of personal values on communication of information

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

During a community education program on genetics and genomics, the nurse uses which of the following as an example of a small gene mutation that affects protein structure-producing hemoglobin S?

Sickle cell anemia

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

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

african americans

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

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 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.