Ch. 4 - Genetics Evolve Questions
Which activity related to genetic counseling best illustrates the role of the medical-surgical nurse? Discloses the results of a genetic test to the client and family members Ensures that the client understands the consequences of having a genetic test performed Tells the client's family the results Urges the client with a positive family history for a genetic disorder to undergo genetic testing
Ensures that the client understands the consequences of having a genetic test performed The nurse can emphasize to the client and family the importance of using genetic testing as a preventive measure and for early detection of diseases related to genetic defects. Disclosing genetic test results is the role of the genetic counselor. Sharing genetic test results with the client's family is a breach of confidentiality. The decision to undergo genetic testing belongs to the client. The nurse should not influence the client's decision in any way.
Which statement is true about the structure and forms of DNA? Autosomal chromosomes contain the genes for sexual differentiation of a person. Every time a cell divides, it must replicate its DNA. Humans have 23 individual chromosomes. Red blood cells carry genes.
Every time a cell divides, it must replicate its DNA. DNA must reproduce itself (replicate) every time a cell divides (undergoes mitosis). For each new cell to have exactly the right quantity of DNA and genes, the DNA in the dividing cell must replicate exactly. Sex chromosomes contain the genes for sexual differentiation of a person. Autosomal chromosomes contain genes that code for all structures and regulatory proteins needed for normal function. Humans have 23 pairs of chromosomes—46 individual chromosomes. Mature red blood cells do not have a nucleus and thus contain no genes.
What is the effect of gene mutation and amino acid sequencing on insulin and blood sugar control? No insulin is produced. Limited insulin is produced. Ineffective insulin is produced. Excessive insulin is produced.
Ineffective insulin is produced. If some of the amino acids are missing or are in the wrong position, the protein made would be different from real insulin and could not reduce blood glucose levels. The actual order of the amino acids is critical for the final function of any protein. Even with gene mutation and amino acid sequencing, insulin is still produced, and in regular amounts.
A 36-year-old client with a suspicious mammogram tells the nurse that her mother died of bone cancer at age 40. In assessing the client for cancer risk, what question does the nurse ask next? "Have any other members of your family had bone cancer?" "Did your mother ever have any other type of cancer?" "Did your mother have regular mammograms?" "How old were you when you started your period?"
"Did your mother ever have any other type of cancer?" Breast cancer is considered an autosomal dominant trait disorder and is caused by the BRCA1 and BRCA2 genes and autosomal dominant transmission. Bone cancer can be a complication of breast cancer because of metastasis. Bone cancer is not considered genetic, so asking if any other family members had bone cancer is not important. Whether the client's mother had regular mammograms does not address the issue of gene trait inheritance. The age of menarche is not a determining factor in this case.
The daughter of a client diagnosed with bilateral breast cancer has been counseled about genetic testing. She has decided not to be tested, despite the client's insistence. How does the nurse respond to the daughter's decision? "Are you sure you are comfortable with your decision?" "It is your decision. You can always call if you change your mind." "I wouldn't want to know either." "You really should do as your mother suggests."
"It is your decision. You can always call if you change your mind." The final decision to have or not have genetic testing rests with the daughter. This is a tough decision, so it is good to allow her the opportunity to change her decision at a later time. It is not the nurse's place to steer the daughter's decision in one direction or another. Asking the daughter if she is sure about her decision will cause her to lose confidence and second-guess her decision. It is not professional for the nurse to express personal opinions such as "I wouldn't want to know either" about this situation. Telling the daughter that she should do as her mother suggests is not accepting of the daughter's decision.
The nurse is teaching a client about genetic counseling. Which statement by the client indicates that the teaching has been effective? "After I change my health behaviors, I can repeat the test and anticipate better results." "Everyone should have genetic testing done." "I don't want to know how I am going to die." "Just because I have the trait does not mean that I will get the disease."
"Just because I have the trait does not mean that I will get the disease." A genetic trait may be recessive or may be controlled, which means that the person may never contract the disorder. Results of genetic tests never change; a genetic trait is present or absent. Genetic testing is expensive and can have many psychosocial repercussions; it is not for everyone. Genetic testing does not indicate how a person is going to die.
A 23-year-old female client has a BRCA1 gene mutation, which increases her risk for developing breast cancer. She says, "I do not want to cut off my breasts!" What is the nurse's response? "Get retested next year. The results could change." "That would be your best form of prevention." "What does your husband think?" "Let's discuss some other options."
"Let's discuss some other options." Yearly mammography and ovarian ultrasound can detect cancer at an early stage, when it is more easily cured. Genetic testing results do not change; the mutation is present or absent. Although removal of the breasts may be a form of prevention, "That would be your best form of prevention" is not the best answer to help the patient make an informed choice. Decisions regarding health care always rest with the client; to suggest otherwise is inappropriate.
Which statement is true about the role of a gene in the synthesis of a specific protein? A dominant gene triggers protein synthesis, and a recessive gene inhibits protein synthesis. A gene contains the code for a specific protein. Genes have no role in protein synthesis. For protein synthesis, all DNA is transcribed into RNA.
A gene contains the code for a specific protein. A gene is a specific segment(s) of DNA that contains the code (recipe) for a specific protein. Protein synthesis is not related to dominance or recessiveness. Protein synthesis is the process whereby genes are used to make the proteins needed for physiologic function. For protein synthesis, only the area of the DNA that contains the gene for the specific protein needed is transcribed into RNA.
A client with a family history of polycystic kidney disease, an autosomal dominant disorder, states to the nurse, "I would like to be genetically tested for the disease, but I don't want my family to know the results." How does the nurse respond? Assures the client that confidentiality will be maintained Discusses the consequences of not informing family members Encourages the client to discuss the results with family Explains that keeping the results from the family is not possible
Assures the client that confidentiality will be maintained The results of a genetic test must remain confidential to the client; they cannot be given to a family member, another health care provider, or an insurance carrier without the client's permission. It is not the nurse's place to advise the client about how he or she should handle the results of genetic testing. Confidentiality will be maintained for the client in genetic testing, so it is inaccurate to tell the client that it is not possible to keep the results from the family.
What is the purpose of genetic testing? Determines how to correct a genetic mutation Determines whether a mutation exists Prevents disease development Identifies treatment options in the early disease state
Determines whether a mutation exists Genetic testing can determine the risk of disease before symptoms develop. Genetic mutations cannot be corrected; they are present or absent. Genetic testing cannot prevent a disease but can provide early detection. Genetic testing does not identify disease treatment options.
When teaching the client and family about genetic counseling, what information does the nurse include in the teaching plan? Diagnostic genetic testing determines the risk for a specific disorder. Informed consent is needed from all family members before genetic testing is performed. Genetic test results can show improvement or worsening of a genetic disorder. Genetic test results will be shared with family members who may be affected.
Diagnostic genetic testing determines the risk for a specific disorder. Diagnostic genetic testing determines whether the client has or does not have a mutation that increases the risk for a specific disorder. Although genetic testing always gives information about the family as well as the client, the client being tested is the only one who is required to give consent. Genetic disorder traits do not change; they may be present or absent. Confidentiality is paramount, and only the client is given the results.
In analyzing a three-generation pedigree for a client, which questions help determine the genetic implications of a health trait? (Select all that apply.) Do affected or unaffected individuals have children affected by the trait? Is the trait expressed equally among male and female family members or is it expressed unequally? Is the trait present in every generation, or does it skip one or more generations? Is a pattern evident, or does the trait appear to be sporadic? Where on the chart does the client appear?
Do affected or unaffected individuals have children affected by the trait? Is the trait expressed equally among male and female family members or is it expressed unequally? Is the trait present in every generation, or does it skip one or more generations? Is a pattern evident, or does the trait appear to be sporadic? Assessing whether individuals with traits have children who are affected will assist in determining the possible recessive or dominant nature of a trait. Whether the trait is expressed equally or unequally among male and female family members is information that would assist in determining whether the trait is a sex-linked trait. If a trait is present in every generation, it is more likely to be a dominant trait versus a recessive trait, which may skip generations. If a pattern is sporadic, the trait may be multifactorial versus having true genetic linkage. The client should be identified at the base of the chart if he or she does not have children; if he or she does have children, the children would form the base of the chart, but placement of the client would not influence analysis of the health trait.
Which condition might require genetic counseling for a client? Peptic ulcer disease Migraine headache Huntington disease Hodgkin's lymphoma
Huntington disease The gene for Huntington's disease (HD) has an autosomal dominant pattern of transmission; therefore, a person who has one HD allele is at risk for developing HD. Peptic ulcer disease, migraine headache, and Hodgkin's lymphoma are not genetic disorders.
A client wishes to become pregnant, but has a family member with cystic fibrosis. She asks about the need for genetic testing. How does the nurse respond? Asks the client whether a positive genetic test result would change her plans to become pregnant Reminds the client that genetic testing is very expensive Refers the client to a genetic counselor Tells the client that cystic fibrosis is caused by an autosomal dominant disorder
Refers the client to a genetic counselor The nurse is not expected to be the final source of definitive information on genetic issues. However, the nurse can help ensure that the client is appropriately referred to a genetic counselor. Although how the client would react to a positive genetic test result is to be considered, it is not the best answer. The nurse should not assume that cost is a primary issue for this client. Telling the client that cystic fibrosis is caused by an autosomal dominant disorder does not help ascertain whether genetic testing is needed. Also, cystic fibrosis has an autosomal recessive pattern of inheritance.
Which statement is consistent with an autosomal dominant pattern of inheritance for a specific trait or characteristic? Unaffected parents are able to transmit the trait to their children. The genotype cannot be predicted from the phenotype. The trait appears consistently only in male offspring of female carriers. The daughter of an affected mother is a carrier of the disease.
The genotype cannot be predicted from the phenotype. It is true that the genotype cannot be predicted from the phenotype. Unaffected parents do not have affected children; therefore the risk is essentially 0%. The autosomal trait does not appear only in male offspring. The daughter of an affected mother may or may not be a carrier of the disease; this would be determined by genetic testing.
