Overview of Genetics and Genomics in Nursing

Which type of genetic test would be used to detect the possibility of Down syndrome? a) DNA analysis b) Complete blood count (CBC) c) Chromosomal analysis d) Hemoglobin electrophoresis

Chromosomal analysis

The nurse is working with a mother whose unborn child was diagnosed as having Down syndrome. The nurse explains to the mother that Down syndrome occurs due to which of the following? a) Germ-line mutation b) Structural gene mutation c) Chromosome nondisjunction d) Phenotype nondisjunction

Chromosome nondisjunction

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 of the following? a) Thalassemia b) Cystic fibrosis c) Diabetes d) Cleft palate

Cystic fibrosis

A nurse is assessing a patient with an autosomal-dominant inherited condition. When discussing the risk of transmission to the patient's offspring, which of the following would the nurse include? a) The patient's partner must also have the genetic mutation. b) Females will be carriers for the condition. c) Each child has a 50% risk of inheriting the gene. d) The risk for inheritance depends on the presence of other gene mutations.

Each child has a 50% risk of inheriting the gene.

Which of the following best reflects the interpretation of the Health Insurance Portability and Accountability Act (HIPAA) and genetic information. a) Employers are not allowed to use a client's genetic information for hiring decisions. b) Group insurance plans can increase premiums for clients with a genetic condition. c) A lifetime cap on benefits cannot be instituted for a specific genetic disorder. d) Genetic information cannot be used to establish insurance eligibility.

Genetic information cannot be used to establish insurance eligibility.

A client is at risk for breast cancer. Which of the following would reflect the client's genotype for this disorder? a) Evidence of a lump in the breast b) Positive breast biopsy c) Carrier of BRCA1 mutation d) Family history of breast cancer

Carrier of BRCA 1 mutation

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? a) Multifactorial b) X-linked recessive c) Autosomal dominant d) Autosomal recessive

Multifactorial

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? a) Prenatal testing b) Presymptomatic testing c) A family pedigree d) Predisposition testing

Presymptomatic testing

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? a) "There is a 50% chance that each of your children will have the condition." b) "The female determines whether your children will have the disorder." c) "Any child you have would most likely have the disorder." d) "You have a 1 in 4 chance of a child being affected by the disorder."

There is a 50% chance that each of your children will have the condition

A client is at risk for breast cancer. Which of the following would reflect the client's genotype for this disorder? a) Evidence of a lump in the breast b) Family history of breast cancer c) Positive breast biopsy d) Carrier of BRCA1 mutation

carrier of BRCA1 mutation

Which of the following is the first step in establishing the pattern of inheritance? a) Pedigree b) Mutation c) Genotype d) Transcription

pedigree

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? a) The percentage of people with a trait who manifest it is variable. b) The severity of the manifestations often varies in degrees. c) Horizontal transmission is more commonly seen in families. d) Males and females are equally affected by this pattern of inheritance.

Males and females are equally affected by this pattern of inheritance.

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? a) 3 b) 2 c) 4 d) 5

3

What target cultural population is a priority for the nurse to educate about prevention of hypertension? a) African Americans b) Hispanics c) Native Americans d) Italian Americans

African Americans

Cystic fibrosis is an example of which type of inheritance? a) Autosomal dominant b) Autosomal recessive c) Multifactorial d) X-linked recessive

Autosomal recessive

The nurse, planning an educational program on cystic fibrosis, should include information explaining that cystic fibrosis is an example of which of the following types of inherited conditions? a) Autosomal dominant b) Multifactorial c) Autosomal recessive d) X-linked recessive

Autosomal recessive

Which of the following would be least appropriate to include when conducting the psychosocial component of the genetics health assessment? a) Family's educational level b) Family rules about information disclosure c) Informed decision making ability d) Ethnic background of all family members

Ethnic background of all family members

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 diagnostic test used to detect small chromosomal abnormalities and characterizing chromosomal rearrangement is which of the following? a) DNA analysis b) Hemoglobin electrophoresis c) Fluorescent in situ hybridization (FISH) d) Hexosaminidase A activity testing

Fluorescent in situ hybridization (FISH)

A nurse is working as part of a genetic counseling team. Which of the following tasks would the nurse most likely perform? a) Complete a physical examination. b) Identify the client's support systems. c) Prepare a written summary for the client. d) Discuss the specific test findings.

Identify the client's support systems

The aim of genomic medicine is a) improving predictions about individuals' susceptibility to diseases. b) cure of disease. c) cloning. d) reproduction.

Improving predictions about individuals' susceptibility to diseases

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? a) Potential for disrupted bonding b) Potential for social stigmatization c) Possible decreased self-esteem d) Implications of reproductive choices

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? a) Absence of consanguinity of family members b) Sister infertility problems due to spouse's low sperm count c) History of an unexplained miscarriage d) Several relatives diagnosed with colon cancer

Several relatives diagnosed with colon cancer

The nurse is assessing a child with Turner syndrome. The nurse anticipates which of the following findings? a) Short stature b) Progressive dementia c) Painful joints d) Chorealike movements

Short stature

The nurse is evaluating a patient's drug blood level for a medication. The patient is identified as a cytochrome P450 (CYP) ultrarapid metabolizer. The nurse anticipates that the patient's drug blood level will be which of the following? a) Subtherapeutic b) Therapeutic c) High d) Toxic

Subtherapeutic

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? a) The patient will need a higher dosage of medication. b) The therapeutic response would be less. c) Drug absorption would be more rapid. d) The patient is at increased risk for toxicity.

The patient is at increased risk for toxicity

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? a) "The female determines whether your children will have the disorder." b) "You have a 1 in 4 chance of a child being affected by the disorder." c) "Any child you have would most likely have the disorder." d) "There is a 50% chance that each of your children will have the condition."

There is a 50% chance that each of your children will have the condition

A nurse working at a clinic interprets which of the following treatment plans as a sign that clinic has transitioned to a genomic approach for personalized medicine? a) Trial and error approach to disease treatment b) Treatment of presenting disease symptoms c) Treatment of underlying genetic cause of disease d) Waiting to treat until disease symptoms appear

treatment of underlying genetic cause of disease

The 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? a) Obtain information about the client's parents. b) Investigate for possible signs and symptoms of the disorder. c) Determine if the condition is dominant or recessive. d) Construct a pedigree of the client's family.

Construct a pedigree of the client's family.

A nurse is working with a client who is undergoing genetic testing. The nurse would least likely be responsible for which of the following? a) Advocating for confidentiality of the results b) Obtaining the client's family history c) Educating the client about the testing procedures d) Informing the client about the testing results

Informing the client about the testing results

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? a) Genotype b) Genome c) Variable expression d) Phenotype

Phenotype

The nurse working in the labor and delivery unit prepares to test for which of the following as a part normal newborn screening? a) Phenylketonuria b) Sickle cell anemia c) Cystic fibrosis d) Down syndrome

Phenylketonuria

Students are reviewing information about genes and chromosomes. They demonstrate understanding of this information when they identify each person as having how many pairs of chromosomes in each cell? a) 47 b) 18 c) 23 d) 46

23

Choice Multiple question - Select all answer choices that apply. The nurse is determining if a pregnant patient is an appropriate candidate for a genetics referral. The nurse makes the referral based on which of the following findings? Select all that apply. a) Child with Down syndrome b) Previous miscarriage c) Positive alpha-fetoprotein test d) Maternal age of 30

-Positive alpha-fetoprotein test -Child with down syndrome

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? a) 80% b) 10% c) 25% d) 50%

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? a) 25% b) 50% c) 100% d) 80%

80%

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? a) Experiencing first-hand providing care for a wide range of genetic conditions b) Having a thorough understanding of the various technologies available c) Being keenly aware of one's own attitudes and assumptions about genetics and genomics d) Obtaining in-depth knowledge about the variety of cultural beliefs related to the causes of illness

Being keenly aware of one's own attitudes and assumptions about genetics and genomics

A patient has an autosomal recessive inherited condition. For what type of disorder does the nurse anticipate the patient will be treated? a) Huntington disease b) Familial hypercholesterolemia c) Hereditary breast cancer d) Cystic fibrosis

Cystic fibrosis

Nondisjunction of a chromosome results in which of the following diagnoses? a) Duchenne muscular dystrophy b) Marfan syndrome c) Huntington disease d) Down syndrome

Down syndrome

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? a) Marfan syndrome b) Tay-Sachs disease c) Hemophilia d) Sickle cell anemia

Hemophilia

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? a) X-linked b) Autosomal dominant c) Multifactoral d) Autosomal recessive

Multifactoral

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? a) X-linked b) Multifactoral c) Autosomal recessive d) Autosomal dominant

Multifactoral

A group of students are reviewing information about genomics and how things are changing toward a genomic era of personalized medicine. The students demonstrate understanding of this information when they identify which of the following as a characteristic? a) Treatment of the symptoms of the presenting disease b) Evaluation of a single gene as responsible for a disease c) Optimization of risk reduction related to genetic predisposition d) Strategy of waiting for disease symptoms to appear

Optimization of risk reduction related to genetic predisposition

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? a) Translocation b) Penetrance c) Deletion d) Variable expression

Penetrance

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? a) Presymptomatic testing b) Prenatal screening c) Predisposition testing d) A family pedigree

Prenatal screening

The nurse is conducting a prenatal class for expectant parents on conception. The nurse provides additional teaching when a parent states which of the following? a) Meiosis is the result of haploid cells. b) The result of mitosis is diploid cells. c) Meiosis involves chromosome recombination. d) Reproductive cells are formed through mitosis.

Reproductive cells are formed through mitosis

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? a) Justice b) Fidelity c) Veracity d) Respect for people

Respect for people

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? a) Cystic fibrosis b) Tay-Sachs disease c) Canavan disease d) Sickle-cell disease

Sickle-cell 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)? a) Use of genetic information to establish insurance eligibility b) Employers from using genetic information to make a decision about promotions c) Health insurers from charging higher rates for people at risk for a genetic condition d) Health insurers from denying coverage to a healthy person at risk for a genetic condition

Use of genetic information to establish insurance eligibility

Which type of Mendelian inherited condition results in both genders being affected equally in a vertical pattern? a) X-linked inheritance b) Multifactorial genetic inheritance c) Automosomal dominant inheritance d) Automosomal recessive inheritance

X-linked inheritance

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? a) DNA analysis b) Chromosomal analysis c) Family history d) Carrier testing

family history

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 of the following terms should the nurse use to document the percentage of family members that manifest the condition? a) Variable expression b) Pedigree c) Penetrance d) Genotype

penetrance

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? a) The risk of transmitting the disorder is negligible. b) Any daughters of the client would be carriers for the disorder. c) The client's sons have a 50% chance of being affected. d) The client has signs and symptoms of the condition.

the client's sons have a 0% chance of being affected

Choice Multiple question - Select all answer choices that apply. A client has hypercholesterolemia. The nurse understands that which of the following reflects the phenotype of the disease? Select all that apply. a) Family history of heart disease b) Early onset of cardiovascular disease c) Mutations in low-density lipoprotein (LDL) receptors d) Low levels of low-density lipoproteins (LDLs) e) Skin xanthoma

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

Choice Multiple question - Select all answer choices that apply. Students are reviewing information about genetic tests and associated conditions. They demonstrate understanding of this information when they identify which conditions as being identified by DNA analysis? Select all that apply. a) Fragile X syndrome b) Sickle-cell anemia c) Down syndrome d) Huntington disease e) Cystic fibrosis

• Huntington disease • Cystic fibrosis • Fragile X syndrome