Overview of Genetics and Genomics
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? Chromosomal analysis DNA analysis Carrier testing Family history
Family history
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 Genotype Genome Pedigree
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? Genome Genotype Phenotype Variable expression
Phenotype
The nurse working in the labor and delivery unit prepares to test for which condition as a part normal newborn screening? Phenylketonuria Down syndrome Sickle cell anemia Cystic fibrosis
Phenylketonuria
Which condition is tested for as a part of normal newborn screening? Phenylketonuria Down syndrome Sickle cell anemia Cystic fibrosis
Phenylketonuria
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? Fidelity Veracity Justice Respect for people
Respect for people
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 has signs and symptoms of the condition. The client's sons have a 50% chance of being affected. Any daughters of the client would be carriers for the disorder. The risk of transmitting the disorder is negligible.
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? Italian Americans Native Americans African Americans Hispanics
African Americans
How many pairs of chromosomes does each person have in each cell? 23 46 18 47
23
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? 1 2 3 4
3
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? 2 3 4 5
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 Sister with intellectual disability History of epilepsy Three previous unexplained miscarriages
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 Italian Americans Native Americans African Americans
Ashkenazi Jewish
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? Having a thorough understanding of the various technologies available Experiencing first-hand providing care for a wide range of genetic conditions 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
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 DNA analysis Hemoglobin electrophoresis Complete blood count (CBC)
Chromosomal analysis
A patient has an autosomal recessive inherited condition. For what type of disorder does the nurse anticipate the patient will be treated? Cystic fibrosis Hereditary breast cancer Huntington disease Familial hypercholesterolemia
Cystic fibrosis
Which genetic test would be used to detect cystic fibrosis? DNA analysis Hemoglobin electrophoresis Chromosomal analysis Protein analysis
DNA analysis
Nondisjunction of a chromosome results in which diagnosis? Down syndrome Duchenne muscular dystrophy Marfan syndrome Huntington disease
Down syndrome
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) Hexosaminidase A activity testing DNA analysis Hemoglobin electrophoresis
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. Group insurance plans can increase premiums for clients with a genetic condition. A lifetime cap on benefits cannot be instituted for a specific genetic disorder. Employers are not allowed to use a client's genetic information for hiring decisions.
Genetic information cannot be used to establish insurance eligibility.
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. Trial and error as a key treatment approach Genetic predisposition as key to risk reduction Interaction of genes with the environment Appearance of disease symptoms as determinants of treatment Individualized approach based on person's and disease's genomic profile
Genetic predisposition as key to risk reduction Interaction of genes with the environment Individualized approach based on person's and disease's genomic profile
When describing meiosis to a group of students, which of the following would be most appropriate to include? Diploid daughter cells are formed in the process. It occurs in the reproductive cells of the body. The chromosomes of each cell duplicate during the process. Each resulting cell contains 23 pairs of chromosomes.
It occurs in the reproductive cells of the body.
"What is a characteristic of the genomic era of personalized medicine's impact on health care?" Strategy of waiting for disease symptoms to appear Evaluation of a single gene as responsible for a disease Treatment of the symptoms of the presenting disease Optimization of risk reduction related to genetic predisposition
Optimization of risk reduction related to genetic predisposition
Which is the first step in establishing a pattern of inheritance? Pedigree Genotype Transcription Mutation
Pedigree
After assessing a client's family history, the nurse determines the need for a genetic referral based on which of the following? History of an unexplained miscarriage Several relatives diagnosed with colon cancer Absence of consanguinity of family members Sister infertility problems due to spouse's low sperm count
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? Cystic fibrosis Sickle-cell disease Tay-Sachs disease Canavan disease
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? One of the parents must have had a recessive gene for this condition. The conditions result from multiple gene mutations and environmental influences. The conditions typically skip a generation. The mother must have been a carrier for this condition.
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 will need a higher dosage of medication. The patient is at increased risk for toxicity. The therapeutic response would be less. Drug absorption would be more rapid.
The patient is at increased risk for toxicity.
The term that describes the percentage of individuals known to carry the gene for a trait and who actually manifest the condition is penetrance. pedigree. genotype. variable expression.
penetrance.
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. two physicians from discussing their patient's condition. interdisciplinary team care-planning sessions. insurance coverage exclusions based on specific conditions.
the use of genetic information to establish insurance eligibility.
