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A female patient tells the nurse that she is genetically predisposed to type 2 diabetes. What is the most important
information that the nurse should provide?
4. the need to address active health problems and not those that have yet to manifest
Correct Answer: 1
Rationale 1: The best way for this patient to avoid illness is to maintain a healthy weight and activity level.
Rationale 3: Daily monitoring of blood glucose levels is not indicated for this patient.
Rationale 4: It is important to take action to prevent disease and not wait for the disease to manifest.
Global Rationale: The best way for this patient to avoid illness is to maintain a healthy weight and activity level.
While nutrition is a significant factor, it is not necessary to avoid carbohydrates. Daily monitoring of blood
glucose levels is not indicated for this patient. It is important to take action to prevent disease and not wait for the
disease to manifest.
Question 2
Type: MCSA
A patient tells the nurse that she does not want to pass on a disease that is genetic in origin to any future children.
How should the nurse respond to this patient?
1. “A complete genetic study could help guide you in your decision making.”
2. “I suppose, then, that you are not going to have any children.”
Correct Answer: 1
Rationale 1: Findings from genetic research can be used by patients and family members to improve their own
health and prevent illness. According to the ANA/ISONG, all registered nurses must have an understanding of
genetics to identify, support, and care for patients who have or who may transmit genetic conditions.
Rationale 2: It is premature to suggest refraining from having children until the genetic study is completed.
Rationale 4: Questioning whether a specific disease is genetic in origin may be helpful, but may not allay the
patient’s concerns about other diseases.
Global Rationale: Findings from genetic research can be used by patients and family members to improve their
own health and prevent illness. According to the ANA/ISONG, all registered nurses must have an understanding
of genetics to identify, support, and care for patients who have or who may transmit genetic conditions. It is
premature to suggest adoption or refraining from having children until the genetic study is completed.
Questioning whether a specific disease is genetic in origin may be helpful, but may not allay the patient’s
concerns about other diseases.
Question 3
Type: MCSA
A patient expresses concern about transmitting genetic illnesses to any future children. What can the nurse do to
help the patient determine which diseases might be transmitted?
1. Complete a pedigree.
Correct Answer: 1
Rationale 1: A pedigree is a pictorial representation or diagram of the medical history of a family that typically
includes three generations. Multiple symbols are utilized to present this picture, and the finished pedigree presents
a family’s medical data and biologic relationship information at a glance. Since a pedigree provides the nurse,
genetic counselor, or geneticist with a clear, visual representation of relationships of affected individuals to the
immediate and extended family, it needs to be completed before scheduling a complete genetic analysis or being
referred to a geneticist for diagnosis.
Rationale 2: Conducting a health promotion assessment will not provide information regarding the patient’s risk
for passing on genetic illnesses to future children.
Rationale 3: Scheduling a complete genetic analysis is not the first action a nurse should take take to address a
patient’s concern about transmitting genetic illnesses to children.
Rationale 4: Referring the patient to a geneticist is not the first action a nurse should take to address a patient’s
concern about transmitting genetic illnesses to children.
Global Rationale: A pedigree is a pictorial representation or diagram of the medical history of a family that
typically includes three generations. Multiple symbols are utilized to present this picture and the finished pedigree
presents a family’s medical data and biologic relationship information at a glance. Since a pedigree provides the
nurse, genetic counselor, or geneticist with a clear, visual representation of relationships of affected individuals to
the immediate and extended family, it needs to be completed before scheduling a complete genetic analysis or
LeMone/Burke/Bauldoff/Gubrud, Medical-Surgical Nursing 6th Edition Test Bank
Copyright 2015 by Pearson Education, Inc.
being referred to a geneticist for diagnosis. Conducting a health promotion assessment will not provide
information regarding the patient’s risk for passing on genetic illnesses to future children.
Question 4
Type: MCSA
At the completion of a genetic assessment, the nurse learns that a patient has three family members diagnosed
with rectal cancer before the age of 40 years. What should the nurse discuss with the patient?
4. reasons why having children would not be recommended for this patient
Correct Answer: 1
Rationale 1: The information from the genetic assessment identified three family members diagnosed with rectal
cancer before the age of 40 years. The nurse should discuss with the patient the importance of having screening
for colorectal cancer at an earlier age.
Rationale 2: Ingesting a diet high in protein and carbohydrates is not going to reduce the patient’s risk for
developing the disease.
Rationale 3: Maximizing exercise is not going to reduce the patient’s risk for developing the disease.
Rationale 4: Counseling the patient on abstaining from having children is not going to improve the patient’s risk
for the disease.
LeMone/Burke/Bauldoff/Gubrud, Medical-Surgical Nursing 6th Edition Test Bank
Copyright 2015 by Pearson Education, Inc.
Global Rationale: The information from the genetic assessment identified three family members diagnosed with
rectal cancer before the age of 40 years. The nurse should discuss with the patient the importance of having
screening for colorectal cancer at an earlier age. Ingesting a diet high in protein and carbohydrates is not going to
reduce the patient’s risk for developing the disease. Maximizing exercise is not going to reduce the patient’s risk
for developing the disease. Counseling the patient on abstaining from having children is not going to improve the
patient’s risk for the disease.
Question 5
Type: MCSA
While assessing a patient, the nurse notes an irregularity that has been observed in other patients, but on an
inconsistent basis. What did the nurse most likely discover in this patient?
1. a polymorphism
2. a mutation
Correct Answer: 1
Rationale 1: A polymorphism is a change in DNA sequence that has been identified in more than 1% of the
population and is, thus, more commonly observed than a mutation. Polymorphisms differ from mutations in that
they are observed more frequently in the general population than mutations.
Rationale 2: A mutation is a change in DNA sequence that has been identified in less than 1% of the population.
Rationale 4: In the X-linked inheritance pattern, the mutant gene is located on the X chromosome. Males have
only one X chromosome with no counterpart for its genes therefore the alteration will appear in all males.
Because the female as two X chromosomes, the alteration may or may not occur.
Global Rationale: A polymorphism is a change in DNA sequence that has been identified in more than 1% of the
population and is, thus, more commonly observed than a mutation. Polymorphisms differ from mutations in that
they are observed more frequently in the general population than mutations. A mutation is a change in DNA
sequence that has been identified in less than 1% of the population. A single-gene inheritance pattern will follow a
pattern of being present in every member of a generation or will skip a generation, depending if the alteration is
dominant or recessive. In the X-linked inheritance pattern, the mutant gene is located on the X chromosome.
Males have only one X chromosome with no counterpart for its genes therefore the alteration will appear in all
males. Because the female as two X chromosomes, the alteration may or may not occur.
Question 6
Type: MCSA
A patient has been told that her unborn child will most likely have Down syndrome. The nurse realizes this
diagnosis is consistent with which genetic finding?
1. trisomy
2. monosomy
3. translocation
4. deletions
LeMone/Burke/Bauldoff/Gubrud, Medical-Surgical Nursing 6th Edition Test Bank
Copyright 2015 by Pearson Education, Inc.
Correct Answer: 1
Rationale 1: Trisomy refers to the presence of a third or extra chromosome instead of the normal pair of a
particular chromosome. The most common type of trisomy in infants is trisomy 21 or Down syndrome.
Rationale 2: Monosomy refers to the presence of only one chromosome instead of the normal pair of
chromosomes.
Rationale 4: Structural rearrangements of chromosomes may result from deletions or loss of a chromosome
segment or piece.
Global Rationale: Trisomy refers to the presence of a third or extra chromosome instead of the normal pair of a
particular chromosome. The most common type of trisomy in infants is trisomy 21 or Down syndrome.
Monosomy refers to the presence of only one chromosome instead of the normal pair of chromosomes.
Translocation (chromosomal reshuffling) occurs when a segment of a chromosome transfers or moves and
attaches itself to another chromosome. Structural rearrangements of chromosomes may result from deletions or
loss of a chromosome segment or piece.
Question 7
Type: MCSA
A nurse is planning to teach the parents of a child with cystic fibrosis about the disorder. Which statement should
the nurse include in this explanation?
2. “A small percentage of the general population carries the gene for cystic fibrosis. If two carriers have children,
then 25% of those children will develop the disease.”
3. “One in four people carry the gene for cystic fibrosis. If two carriers have children, then 25% of those children
will develop the disease.”
4. “Some people carry the gene for cystic fibrosis. Of those carriers, one in four will develop the disease.”
Correct Answer: 1
Rationale 1: Every individual carries the gene cystic fibrosis transference regulator (CTFR). Those who develop
the disease have a mutation in that gene.
Rationale 2: Every individual carries the gene cystic fibrosis transference regulator.
Rationale 3: Every individual carries the gene cystic fibrosis transference regulator.
Rationale 4: Every individual carries the gene cystic fibrosis transference regulator. Those who develop the
disease have a mutation in that gene.
Global Rationale: Every individual carries the gene cystic fibrosis transference regulator. Those who develop the
disease have a mutation in that gene. The other answer choices are all incorrect as they indicate that only a few
carry the gene for cystic fibrosis.
Question 8
Type: MCSA
LeMone/Burke/Bauldoff/Gubrud, Medical-Surgical Nursing 6th Edition Test Bank
Copyright 2015 by Pearson Education, Inc.
A patient tells the nurse that many of her family members have a type of anemia that is genetic. What should the
nurse realize will occur in this patient?
1. The patient will develop the disease only if there is a mutation in the gene.
4. The patient will develop the disease only if the gene translocates.
Correct Answer: 1
Rationale 1: All humans have essentially the same 20,000 to 25,000 genes; it is the mutation or polymorphism in
the gene that predisposes some individuals for disease, not translocation nor the gene itself.
Global Rationale: All humans have essentially the same 20,000 to 25,000 genes; it is the mutation or
polymorphism in the gene that predisposes some individuals for disease, not translocation nor the gene itself. The
patient may or may not develop or die from anemia. Translocation does not predispose some individuals for
disease.
At the completion of genetic testing it has been determined that a patient’s baby will have Down syndrome. What
should the nurse say to the patient after learning this information?
1. “I realize that this news is difficult for you. Is there anything that I can do to help you at this time?”
4. “It does not matter if the baby has problems; all life is precious.”
Correct Answer: 1
Rationale 1: Nurses should encourage open discussions and the expression of fears and concerns. When
supporting a the pregnant patient who learns that the baby has Down syndrome, the best response for the nurse to
make would be to acknowledge that the news is difficult and offer to help the patient.
Rationale 2: The nurse should not suggest that the patient terminate the pregnancy.
Rationale 3: The nurse should not tell the patient that the baby will have challenges that will need to be met by a
young person.
Rationale 4: Stating that all life is precious is judgmental and should not be stated by the nurse.
Global Rationale: Nurses should encourage open discussions and the expression of fears and concerns. When
supporting a the pregnant patient who learns that the baby has Down syndrome, the best response for the nurse to
make would be to acknowledge that the news is difficult and offer to help the patient. The nurse should not
suggest that the patient terminate the pregnancy nor tell the patient that the baby will have challenges that will
need to be met by a young person. Stating that all life is precious is judgmental and should not be stated by the
nurse.
Question 10
Type: MCSA
The nurse is developing a teaching plan for parents who need genetic counseling. Which statement by a parent
indicates the need for further education?
1. “All the chromosomes are the same size in males and females alike.”
2. “Half of the sets of chromosomes come from the mother and the other half comes from the father.”
3. “The 23rd pair of chromosomes will determine if our child will be male or female.”
4. “One Y chromosome and one X sex chromosome will produce a male child.”
Correct Answer: 1
Rationale 1: A basic understanding of the cell, DNA, cell division, and chromosomes is important for young
families receiving genetic counseling. The cell nucleus contains about 6 feet of DNA that are tightly wound and
packaged into 23 pairs of chromosomes, making a complete set of 46 chromosomes. There are two copies of each
chromosome. One copy, or half of the complete set of these 46 chromosomes, is inherited from the mother, and
the other copy is inherited from the father. Chromosomes are numbered according to size, with chromosome 1
being the largest and chromosome 22 being the smallest.
Rationale 2: One copy, or half of the complete set of these 46 chromosomes, is inherited from the mother, and the
other copy is inherited from the father. The first 22 pairs of chromosomes are alike in males and females.
Rationale 3: The 23rd pair, the sex chromosomes, determines an individual’s gender.
Rationale 4: A female has two copies of the X chromosomes and a male has one X chromosome and a Y
chromosome. These X and Y chromosomes are known as sex chromosomes.
Global Rationale: A basic understanding of the cell, DNA, cell division, and chromosomes is important for
young families receiving genetic counseling. The cell nucleus contains about six feet of DNA that are tightly
wound and packaged into 23 pairs of chromosomes, making a complete set of 46 chromosomes. There are two
copies of each chromosome. One copy, or half of the complete set of these 46 chromosomes, is inherited from the
mother, and the other copy is inherited from the father. Chromosomes are numbered according to size, with
chromosome 1 being the largest and chromosome 22 being the smallest. The first 22 pairs of chromosomes are
alike in males and females. The 23rd pair, the sex chromosomes, determines an individual’s gender. A female has
Question 11
Type: MCSA
At the conclusion of genetic testing, a patient learns that he has a predisposition for developing cardiovascular
disease at a young age. What should the nurse instruct the patient regarding this information?
1. “This information can help guide you to make lifestyle changes to reduce the chance of developing
cardiovascular disease.”
2. “At least you know now that you will need cardiac bypass surgery.”
3. “Since you will most likely develop the disease early in life, enjoy your life as much as possible now.”
4. “I would not place too much emphasis on these test results because most of the time they are inconclusive.”
Correct Answer: 1
Rationale 1: One benefit of genetic testing is that it allows for preventive measures and lifestyle adaptations. The
nurse should instruct the patient on how this information can serve as a guide to make lifestyle changes to reduce
the risk of developing cardiovascular disease.
Rationale 2: The nurse has no way of knowing whether the patient is going to need cardiac bypass surgery or not.
Rationale 3: The nurse should not encourage the patient to enjoy life as much as possible now since this might
lead to high-risk behaviors.
Global Rationale: One benefit of genetic testing is that it allows for preventive measures and lifestyle
adaptations. The nurse should instruct the patient on how this information can serve as a guide to make lifestyle
changes to reduce the risk of developing cardiovascular disease. The nurse has no way of knowing whether the
patient is going to need cardiac bypass surgery or not. The nurse should not encourage the patient to enjoy life as
much as possible now since this might lead to high-risk behaviors. The nurse should not minimize the importance
of the genetic testing results.
Question 12
Type: MCSA
A patient planning to be married tells the nurse that she has a strong family history of Huntington chorea but does
not plan to let her fiancé know. How should the nurse respond to this patient?
1. “Is there any reason why you do not want your fiancé to know about the genetic illness?”
3. “Are you afraid that he will not want to marry you if he knows?”
Correct Answer: 1
Rationale 1: The nurse needs to support the patient in ethical and social issues. The best response from the nurse
would be to ask the patient if there is any reason why she does not want her fiancé to be aware of the genetic
illness.
Rationale 3: Suggesting that the fiancé would not want to marry the patient if he was aware of the genetic disease
is also an inappropriate response for the nurse to make.
Rationale 4: The nurse should not make a judgment statement by saying that there are worse disease processes
than Huntington chorea.
Global Rationale: The nurse needs to support the patient in ethical and social issues. The best response from the
nurse would be to ask the patient if there is any reason why she does not want her fiancé to be aware of the
genetic illness. Agreeing that the fiancé should not be made aware would be an inappropriate response for the
nurse to make. Suggesting that the fiancé would not want to marry the patient if he was aware of the genetic
disease is also an inappropriate response for the nurse to make. The nurse should not make a judgment statement
by saying that there are worse disease processes than Huntington chorea.”
Question 13
Type: MCSA
A patient planning to have genetic testing prior to having children tells the nurse that she is fearful that too many
people will learn about the test. How should the nurse respond to this patient?
1. “The results of the tests are confidential and no one can have the results without your permission.”
2. “Most insurance companies will want the results before paying for the tests.”
3. “The results will be available to anyone who reviews your medical record.”
4. “The doctor will most likely use the results when planning care and treatment for other patients with the same
genetic disorder.”
Rationale 1: The nurse should explain that the results of genetic testing are confidential and that the written
permission to have access to the results will be needed by the patient.
Rationale 2: Insurance companies will not need the results of the tests before paying for the tests.
Rationale 3: The results will be confidential and not accessible by anyone who reviews the patient’s medical
record.
Rationale 4: The patient’s physician cannot use the test results when planning care and treatment for other
patients with the same genetic disorder.
Global Rationale: The nurse should explain that the results of genetic testing are confidential and that the written
permission to have access to the results will be needed by the patient. Insurance companies will not need the
results of the tests before paying for the tests. The results will be confidential and not accessible by anyone who
reviews the patient’s medical record. The patient’s physician cannot use the test results when planning care and
treatment for other patients with the same genetic disorder.
Question 14
Type: MCSA
Through testing, a patient learns of a genetic disease that he has inherited from his parents, yet none of his other
siblings have inherited the same disease. The patient tells the nurse that he has always believed his parents “didn’t
want him” and now he has proof. What should the nurse counsel this patient?
1. Suggest the patient talk with a counselor to discuss the results of the test and future options.
2. Ask the patient if he has ever discussed his thoughts and fears with his parents.
4. Remind the patient that genetic testing is inconclusive, and there is a great chance that the results are wrong.
Correct Answer: 1
Rationale 1: Individuals learning of genetic testing results can have feelings of anger, guilt, confusion, and
depression. The nurse should suggest that the patient talk with a counselor to discuss the test results and future
options to help the patient work through his feelings.
Rationale 2: The nurse should not suggest that the patient confront his parents with his thoughts and feelings.
Rationale 3: The nurse should also not suggest that the patient discuss the test results with his siblings in order to
elicit their help and support before the disease manifests.
Rationale 4: Genetic testing is not inconclusive. This would be an inappropriate suggestion to make to the
patient.
Global Rationale: Individuals learning of genetic testing results can have feelings of anger, guilt, confusion, and
depression. The nurse should suggest that the patient talk with a counselor to discuss the test results and future
options to help the patient work through his feelings. The nurse should not suggest that the patient confront his
parents with his thoughts and feelings. The nurse should also not suggest that the patient discuss the test results
with his siblings in order to elicit their help and support before the disease manifests. Genetic testing is not
inconclusive. This would be an inappropriate suggestion to make to the patient.
Question 15
Type: MCSA
A patient learning that her newborn baby has a genetic disorder tells the nurse that it was because a stranger gave
her baby the “evil eye.” What should this information suggest to the nurse?
3. The patient is not going to be a good mother since she permits strangers around the baby.
4. Healthcare dollars should not be spent trying to change this patient’s opinion of why the baby has a genetic
disorder.
Correct Answer: 1
Rationale 1: The nurse needs to be aware of the patient’s cultural and religious beliefs. The patient stating that the
newborn has a genetic disorder because a stranger gave the baby the “evil eye” is evidence that the patient
believes this is the cause of the disorder.
Rationale 2: This information does not suggest that the patient needs psychiatric counseling or that the patient is
not going to be a good mother.
Rationale 3: This information does not suggest that the patient is not going to be a good mother.
Rationale 4: Deciding whether healthcare dollars should be spent trying to change the patient’s opinion of why
the baby has a genetic disorder is beyond the scope of the nurse.
Global Rationale: The nurse needs to be aware of the patient’s cultural and religious beliefs. The patient stating
that the newborn has a genetic disorder because a stranger gave the baby the “evil eye” is evidence that the patient
believes this is the cause of the disorder. This information does not suggest that the patient needs psychiatric
counseling or that the patient is not going to be a good mother. Deciding whether healthcare dollars should be
spent trying to change the patient’s opinion of why the baby has a genetic disorder is beyond the scope of the
nurse.
A patient has a strong family history of nonpolyposis colorectal cancer. What is the best advice the nurse can give
to the patient?
1. Have predispositional genetic testing done to detect the presence of the genetic disorder even though the patient
may never develop cancer.
2. Teach the patient the symptoms of colon cancer and suggest a high-fiber diet to prevent cancer.
3. Have regular colonoscopies; if one is abnormal, then predispositional genetic testing is indicated.
4. Have predispositional genetic testing done to detect the presence of colorectal cancer so that treatment can be
initiated as early as possible.
Correct Answer: 1
Rationale 1: The patient should be advised to have a predispositional test to detect the presence of the genetic
mutation that causes nonpolyposis colorectal cancer.
Rationale 2: Teaching the patient the symptoms of colon cancer and suggesting a high-fiber diet to prevent
cancer are important pieces of advice, but not the best advice for this patient at this time.
Global Rationale: The patient should be advised to have a predispositional test to detect the presence of the
genetic mutation that causes nonpolyposis colorectal cancer. Teaching the patient the symptoms of colon cancer
and suggesting a high-fiber diet to prevent cancer are important pieces of advice, but not the best advice for this
patient at this time. In this case, genetic testing is indicated. Therapy would only be started if the cancer were
present.
Question 17
Type: MCSA
Through genetic testing, a patient learns that he has an apolipoprotein E2 gene. What should this information
suggest to the nurse?
Correct Answer: 1
Rationale 1: The apolipoprotein E gene provides instructions to make a protein that combines with fats in the
body to form molecules called lipoproteins that are responsible for packaging cholesterol and other fats and
carrying them through the bloodstream. Research has shown that a person who inherits at least one E4 allele will
have a greater chance of developing Alzheimer disease. Inheriting the E2 allele seems to indicate that a person is
less likely to develop Alzheimer disease.
Rationale 2: Inheriting the E2 allele does not indicate that a person is more likely to develop Alzheimer disease.
Rationale 4: The apolipoprotein E gene is not a predictor for developing colorectal cancer.
Global Rationale: The apolipoprotein E gene provides instructions to make a protein that combines with fats in
the body to form molecules called lipoproteins which are responsible for packaging cholesterol and other fats and
carrying them through the bloodstream. Research has shown that a person who inherits at least one E4 allele will
have a greater chance of developing Alzheimer disease. Inheriting the E2 allele does not indicate that a person is
more likely to develop Alzheimer disease. The apolipoprotein E gene is not a predictor for contracting malaria or
developing colorectal cancer.
Question 18
Type: MCSA
From genetic testing, a patient learns that a specific medication can help a developing disease process. What does
the nurse understand that genetic testing provided for the patient?
1. biological marker
2. phenotype
3. genotype
4. translocation
Correct Answer: 1
Rationale 1: Biological markers are easily tracked, stable segments of DNA. Information gained from biological
markers will provide information on how subtle differences in humans impact their response to drugs and the
environment, thus making medical treatment and pharmacologic management more individualized.
Rationale 2: The observable, outward expression of an individual’s entire physical, biochemical, and physiologic
makeup, as determined by their genotype and environmental factors, is referred to as phenotype.
Rationale 4: Translocation occurs when a segment of a chromosome transfers or moves and attaches itself to
another chromosome.
Question 19
Type: MCSA
A patient is having difficulty achieving adequate anticoagulation with prescribed doses of warfarin. The nurse
realizes that what might be indicated for this patient?
Correct Answer: 1
Rationale 1: One use of genetic testing involves predicting or studying the patient’s response to particular
medications. Pharmacogenetic testing has shown that 20% of Caucasians metabolize Warfarin more slowly and
take longer to achieve therapeutic dosing. Genetic testing could help determine why the patient has not achieved
successful anticoagulation.
Rationale 3: Reviewing the patient’s diet might provide some information regarding dietary reasons for the
unsuccessful anticoagulation of the patient.
Rationale 4: An analysis of the patient’s lifestyle will not help determine why the patient has not been achieved
successful anticoagulation.
Global Rationale: One use of genetic testing involves predicting or studying the patient’s response to particular
medications. Pharmacogenetic testing has shown that 20% of Caucasians metabolize warfarin more slowly and
take longer to achieve therapeutic dosing. Genetic testing could help determine why the patient has not achieved
successful anticoagulation. There might not be another anticoagulant available for the patient. Reviewing the
patient’s diet might provide some information regarding dietary reasons for the unsuccessful anticoagulation of
the patient. An analysis of the patient’s lifestyle will not help determine why the patient has not been achieved
successful anticoagulation.
Question 20
Type: MCSA
A patient tells the nurse that her mother has type 2 diabetes and heart problems. The nurse realizes that this
information:
1. means that the patient will probably not change her health habits.
Rationale 1: There is no evidence that the patient would not change any health habits.
Rationale 2: Even though most individuals do not know their genetic makeup, the nurse can help plan strategies
to promote and maintain health for the patient. Family history has long been a part of nursing assessment, but the
relative importance of obtaining a family history has recently increased as our knowledge of the interaction of
genes and the environment has expanded. In fact, it is an inexpensive first genetic screen, often underused by
healthcare professionals.
Rationale 3: Although the family health history is significant, it will not provide a direct prediction for the
patient’s children and is not the best answer.
Rationale 4: Information to determine the relationship between the patient and her family is not given.
Global Rationale: Even though most individuals do not know their genetic makeup, the nurse can help plan
strategies to promote and maintain health for the patient. Family history has long been a part of nursing
assessment, but the relative importance of obtaining a family history has recently increased as our knowledge of
the interaction of genes and the environment has expanded. In fact, it is an inexpensive first genetic screen, often
underused by healthcare professionals. There is no evidence that the patient would not change any health habits.
Although the family health history is significant it will not provide a direct prediction for the patient’s children
and is not the best answer. Information to determine the relationship between the patient and her family is not
given.
Question 21
Type: MCSA
The physician has ordered chromosomal analysis for a newborn baby. Which test does the nurse realize will most
likely be performed with this baby?
1. karyotype
LeMone/Burke/Bauldoff/Gubrud, Medical-Surgical Nursing 6th Edition Test Bank
Copyright 2015 by Pearson Education, Inc.
2. newborn screen
3. carrier testing
Correct Answer: 1
Rationale 1: The karyotype provides an analysis of the number and structure of the chromosomes.
Rationale 2: Newborn screening is performed shortly after birth. It seeks to identify inborn errors of metabolism.
Rationale 3: Carrier testing is completed on asymptomatic individuals who may be carriers of one copy of a gene
alteration that can be transmitted to future children in an autosomal recessive or X-linked pattern of inheritance.
Rationale 4: Preimplantation genetic testing involves the detection of disease causing gene alterations in human
embryos just after in vitro fertilization and before implantation in the uterus.
Global Rationale: The karyotype provides an analysis of the number and structure of the chromosomes.
Newborn screening is performed shortly after birth. It seeks to identify inborn errors of metabolism. Carrier
testing is completed on asymptomatic individuals who may be carriers of one copy of a gene alteration that can be
transmitted to future children in an autosomal recessive or X-linked pattern of inheritance. Preimplantation
genetic testing involves the detection of disease causing gene alterations in human embryos just after in vitro
fertilization and before implantation in the uterus.
Question 22
Type: MCSA
A 42-year-old pregnant patient asks the nurse if the baby will be born with Down syndrome because of a
chromosomal abnormality. What chromosomal abnormality does the nurse know this to be?
LeMone/Burke/Bauldoff/Gubrud, Medical-Surgical Nursing 6th Edition Test Bank
Copyright 2015 by Pearson Education, Inc.
1. 23 pairs of chromosomes
2. 26 pairs of chromosomes
Correct Answer: 4
Rationale 3: The abnormality being described is not one that has a missing member of a chromosome pair.
Rationale 4: A zygote that is trisomic, or one that has three chromosomes instead of the usual 2, can produce the
condition called trisomy 21 or Down syndrome. The specific chromosome involved with this disorder is number
21. That is the abnormality being described.
Global Rationale: The abnormality being described is not 23 pairs of chromosomes, 26 pairs of chromosomes, or
one with a missing member of a chromosome pair. A zygote that is trisomic, or one that has three chromosomes
instead of the usual two, can produce the condition called trisomy 21 or Down syndrome. The specific
chromosome involved with this disorder is number 21. That is the abnormality being described.
Question 23
Type: MCSA
LeMone/Burke/Bauldoff/Gubrud, Medical-Surgical Nursing 6th Edition Test Bank
Copyright 2015 by Pearson Education, Inc.
A patient tells the nurse that her husband has chronic myelogenous leukemia, and she is concerned that their
children will inherit that genetic disorder. How should the nurse respond to this patient?
1. “The genetic makeup that created the chronic myelogenous leukemia in your husband is not inheritable.”
4. “It could cause the same disorder, but it’s a decision that you will have to make.”
Correct Answer: 1
Rationale 1: The chromosome translocation that is responsible for chronic myelogenous leukemia occurs in
somatic cells, not germ cells, and therefore is not inheritable.
Rationale 2: It is not appropriate to agree with the patient at this time. This may increase her level of concern
needlessly.
Rationale 3: Offering advice that is not in the best interest of the patient and family is not considered therapeutic
communication.
Rationale 4: Offering advice that is not in the best interest of the patient and family is not considered therapeutic
communication.
Global Rationale: The chromosome translocation that is responsible for chronic myelogenous leukemia occurs in
somatic cells, not germ cells, and therefore is not inheritable. All other responses are offering advice, which is not
in the best interest of the patient and her family and is not considered therapeutic communication.
A male patient has a history of a genetic disorder and is concerned that this same disorder will be passed to his
children. What information should the nurse provide to this patient?
2. If the genetic disorder is a disorder of metabolism, it will most likely not be passed to any children.
4. The children will inherit the disorder only if the disorder is on chromosomes 13, 18, and 21.
Correct Answer: 2
Rationale 1: Mitochondrial genes and any diseases due to DNA alterations on those genes are transmitted through
the mother in a matrilineal pattern. An affected female will pass the metabolism DNA mutation to all of her
children. An affected male will not pass the metabolism DNA mutation to any of his children.
Rationale 2: Mitochondrial genes and any diseases due to DNA alterations on those genes are transmitted through
the mother in a matrilineal pattern. An affected female will pass the metabolism DNA mutation to all of her
children. An affected male will not pass the metabolism DNA mutation to any of his children.
Rationale 3: It is inappropriate for the nurse to recommend that the patient not have children. This
recommendation steps beyond the scope of practice.
Rationale 4: Inherited disorders exist beyond those involving chromosomes 13, 18, and 21.
Global Rationale: Mitochondrial genes and any diseases due to DNA alterations on those genes are transmitted
through the mother in a matrilineal pattern. An affected female will pass the metabolism DNA mutation to all of
her children. An affected male will not pass the metabolism DNA mutation to any of his children. It is
inappropriate for the nurse to recommend the patient not have children. This recommendation steps beyond the
scope of practice. Inherited disorders exist beyond those involving chromosomes 13, 18, and 21.
Question 25
Type: MCSA
A baby is born with a genetic disorder that did not affect either of the parents. What should the nurse realize about
this baby’s disorder?
Correct Answer: 4
Rationale 1: If only one parent were affected, the child would not be born with the disorder but simply would be
a carrier as well.
Rationale 2: If only one parent were affected, the child would not be born with the disorder but simply would be
a carrier as well.
Rationale 3: There is no evidence that the father is not the biological father.
Rationale 4: A child born with a recessive condition has inherited one altered gene from the mother and one from
the father. In most cases, neither of the parents is affected and therefore, each of the parents must have a single
gene alteration on one chromosome of a pair and the normal, wild-type, or unaltered, form of the gene on the
other chromosome. These parents would be known as carriers of the condition and they do not usually exhibit any
signs and symptoms of the condition.
Global Rationale: A child born with a recessive condition has inherited one altered gene from the mother and
one from the father. In most cases, neither of the parents is affected and therefore, each of the parents must have a
single gene alteration on one chromosome of a pair and the normal, wild-type, or unaltered, form of the gene on
the other chromosome. These parents would be known as carriers of the condition and they do not usually exhibit
any signs and symptoms of the condition. If only one parent was affected, the child would not be born with the
Question 26
Type: MCSA
A baby is born with a genetic disorder, and neither parent has a history of this disorder. What should the nurse use
to explain the baby’s genetic disorder?
1. de novo
2. penetrance
4. multifactorial conditions
Correct Answer: 1
Rationale 1: When there is no previous history of a condition, including even subtle signs and symptoms of the
disease, in any immediate or distant family member, the disease may be caused by a spontaneous new mutation.
This is called de novo.
Rationale 4: Multifactorial conditions occur as a result of genetic variations and lifestyle and environmental
influences that work together.
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Global Rationale: When there is no previous history of a condition, including even subtle signs and symptoms of
the disease in any other immediate or distant family member, the disease may be caused by a spontaneous new
mutation. This is called de novo. Penetrance is the probability that a gene will be expressed phenotypically. X-
linked conditions are recessive in nature. Multifactorial conditions occur as a result of genetic variations and
lifestyle and environmental influences that work together.
Question 27
Type: MCSA
Upon the completion of genetic testing, a patient is happy to learn that she has a negative test result. The nurse
then explains to the patient that
Correct Answer: 4
Rationale 1: A negative test result cannot guarantee that the disease or condition might not develop in the future.
Rationale 2: The patient’s children may experience random chromosomal abnormalities that are seen in the rest
of the population.
Global Rationale: A negative test result cannot guarantee that the disease or condition might not develop in the
future. The patient’s children may experience random chromosomal abnormalities, which are seen in the rest of
the population.
Question 28
Type: MCSA
A patient and her future husband completed genetic testing through a laboratory that they found on the Internet.
The patient is upset because the results determined that they are at risk for having children with congenital
abnormalities. Which is an appropriate nursing response?
2. “The decision about whether or not to have children has been made for you.”
3. “Are you concerned that your future husband won’t want to get married now?”
Correct Answer: 1
Rationale 1: A positive screening genetic test result indicates an increased risk or probability but must always be
confirmed by diagnostic testing.
Rationale 4: The nurse should not tell the patient and her husband that the testing is not valuable.
Global Rationale: A positive screening genetic test result indicates an increased risk or probability but must
always be confirmed by diagnostic testing. The other nursing responses are offering advice, which is not
considered therapeutic communication.
Question 29
Type: MCSA
A patient tells the nurse that her teenaged son, who has a congenital abnormality, is demonstrating increasing
anger and animosity toward her and her husband. The nurse realizes that the son might be
Correct Answer: 3
Rationale 1: Normal teens do not have to manage the implications associated with the occurrence of a congenital
abnormality.
Rationale 4: There is no evidence that these behaviors are related to disease process. There is no information
provided to support this assumption.
Global Rationale: The individual who has inherited an altered disease-producing gene may foster deep
resentment toward the parent who carries the altered gene. There is no evidence that these behaviors are related to
disease process. Normal teens do not have to manage the implications associated with the occurrence of a
congenital abnormality. The patient is not exhibiting behavior consistent with confusion.
Question 30
Type: MCSA
At the conclusion of a genetic counseling session, a family member says to the nurse, “There’s got to be
something that you aren’t telling us.” The nurse realizes that this individual is
Correct Answer: 4
Rationale 1: Feelings of guilt are not manifested in the demeanor demonstrated by the patient.
Rationale 3: Feelings of anger are not manifested in the demeanor demonstrated by the patient.
Rationale 4: Many patients are accustomed to practitioners and nurses who provide decision-making direction
and guidance, so patients may be uncomfortable when the nurse takes the opposite approach. They may believe
that the nurse or healthcare provider is withholding very bad news. The nurse should discuss the positives and
negatives of each decision and present as many options as possible through the use of therapeutic listening and
communication skills.
Global Rationale: Many patients are accustomed to practitioners and nurses who provide decision-making
direction and guidance, so patients may be uncomfortable when the nurse takes the opposite approach. They may
believe that the nurse or healthcare provider is withholding very bad news. The nurse should discuss the positives
and negatives of each decision and present as many options as possible through the use of therapeutic listening
and communication skills. Feelings of guilt and anger are not manifested in the demeanor demonstrated by the
patient. There is no information provided concerning the genetic disorder being evaluated. There is an inadequate
amount of data presented to link the behaviors with the disorder.
Question 31
Type: MCSA
A baby with Down syndrome has been born to a mother who refuses to allow any family members to visit her or
the newborn. What should the nurse realize this patient is demonstrating?
1. postpartum depression
2. denial
4. poor bonding
Correct Answer: 3
Rationale 3: Nurses must also provide care to help alleviate any patient anxiety or guilt. Anxiety of the unknown
is common when awaiting diagnosis or test results, but individuals also experience anxiety from not
understanding the future implications of a confirmed genetic disease. Guilt and shame are very common as a
patient deals with the loss of the expectation and dream of a healthy child. Guilt may be associated with
knowledge of the existence of a genetic condition being in a family. The nurse must support patients as they
contemplate telling extended family members, friends, and neighbors about a confirmed diagnosis. Patients often
do not want to tell extended family members until they are ready. The nurse should encourage open discussion
and expressing fears and concerns.
Rationale 4: There is no evidence to suggest that the mother is not bonding well with the infant.
Global Rationale: Nurses must also provide care to help alleviate any patient anxiety or guilt. Anxiety of the
unknown is common when awaiting diagnosis or test results, but individuals also experience anxiety from not
understanding the future implications of a confirmed genetic disease. Guilt may be associated with knowledge of
the existence of a genetic condition being in a family. The nurse must support patients as they contemplate telling
extended family members, friends, and neighbors about a confirmed diagnosis. Patients often do not want to tell
extended family members until they are ready. The nurse should encourage open discussion and expressing fears
and concerns. Guilt and shame are very common as a patient deals with the loss of the expectation and dream of a
healthy child. There is no evidence to suggest that the mother is in denial or has poor bonding with the infant.
Postpartum depression is not an immediate response.
A patient is upset to hear the nurse say that the results of genetic testing revealed wild-type genes. The nurse
should explains that this type of gene is
1. normal.
3. defective.
4. unexpected.
Correct Answer: 1
Global Rationale: A normal or unaltered form of a gene is known as wild-type. Wild-type genes are not
abnormal with limitations, defective, or unexpected.
A patient who is pregnant reports a family history of cystic fibrosis and asks about the risks for transmission to
her child. What concepts should the nurse include in the discussion?
4. Both parents must be affected with this disorder for transmission to occur.
Correct Answer: 3
Rationale 1: Autosomal recessive disorders such as cystic fibrosis are transmitted equally between male and
female children.
Rationale 3: Autosomal recessive disorders such as cystic fibrosis are transmitted equally between male and
female children.
Rationale 4: The parents of this disorder may be carriers but not affected.
Global Rationale: Autosomal recessive disorders such as cystic fibrosis are transmitted equally between male
and female children. The disorder may appear to skip a generation. The parents of this disorder may be carriers
but not affected.
A newborn has just been diagnosed with a negative result from genetic testing. What should the nurse realize this
finding means?
Correct Answer: 1
Rationale 1: If the genetic test was for newborn screening and the result is negative, the newborn will not need
diagnostic testing. No follow-up is needed.
Rationale 3: The test results indicate the baby does not have a genetic disorder.
Global Rationale: If the genetic test was for newborn screening and the result is negative, the newborn will not
need diagnostic testing. No follow-up is needed. There is no evidence of a manifestation. Newborn screening is
often routine. The test results indicate the baby does not have a genetic disorder. There is no way to predict the
baby’s future health status.
Four hundred twenty-two people are involved in a research study regarding warfarin use. Twenty-three are
African American, fourteen are Asian, and the rest are Caucasian. Based on previous research, calculate how
many of the Caucasian patients may metabolize warfarin at a slower rate due to a polymorphism on the
cytochrome P450 CYP2C9 gene. _______
Standard Text:
Correct Answer: 77
Rationale: Three hundred eighty-five of the 422 research participants are Caucasian. Twenty percent of
Caucasians have a polymorphism on the cytochrome P450 CYP2C9 gene and consequently metabolize warfarin
more slowly and take longer to achieve therapeutic dosing. Twenty percent of 385 patients is 77 people.
Global Rationale:
Question 36
Type: SEQ
A patient scheduled for a genetic evaluation has questions regarding the visit. Rank the steps in the order that they
should most likely occur.
Standard Text: Click and drag the options below to move them up or down.
Choice 4. The geneticist discusses the findings with the patient and makes recommendations.
Rationale 1: The third step is for the geneticist to examine the patient.
Rationale 2: The fourth step is for the patient to be scheduled for diagnostic tests.
Rationale 3: The first step is for the nurse and patient to construct a 3-generation pedigree.
Rationale 4: The fifth step is when the geneticist discusses the findings with the patient and makes specific
recommendations.
Rationale 5: The second step is for the genetic clinical nurse to interview the patient.
Global Rationale: The patient should be prepared to give as exact a family history as possible so that a detailed
three-generation pedigree can be constructed. During the appointment, a genetic clinical nurse, genetic counselor,
and/or a physician will perform an initial interview with the patient. A geneticist will examine the patient in order
to establish an accurate diagnosis. Tests may be ordered. After the exam and the completion of any applicable
testing, the geneticist and/or genetic counselor will discuss the findings with the patient and make
recommendations.
Question 37
LeMone/Burke/Bauldoff/Gubrud, Medical-Surgical Nursing 6th Edition Test Bank
Copyright 2015 by Pearson Education, Inc.
Type: MCSA
A 29-year-old patient whose mother died from an unspecified cancer at the age of 33 has the following diagnostic
test results. What would be appropriate for this patient?
Correct Answer: 2
Rationale 2: This patient should be scheduled for a colonoscopy at least every 2 years beginning at age 25. This
is important for this patient because the patient may have a positive family history and mutations in the
MLH1/MSH2 gene, which increase the risk for hereditary nonpolyposis colorectal cancer.
Rationale 4: Patients with breast cancer should be screened for ovarian cancer because they are closely related
genetically.
Global Rationale: This patient should be scheduled for a colonoscopy at least every 2 years beginning at age 25.
This is important for this patient because the patient may have a positive family history and mutations in the
MLH1/MSH2 gene, which increase the risk for hereditary nonpolyposis colorectal cancer. Prostate exam and
mammogram are not indicated for this patient. Patients with breast cancer should be screened for ovarian cancer
because they are closely related genetically.
Question 38
Type: MCSA
While reviewing a male patient’s history in the chart provided, the nurse becomes concerned. The patient states,
“I haven’t been to see a physician in years, and it’s time for me to get a thorough check-up.” Based on the nurse’s
understanding of genetically related diseases, which diagnostic screening examination may be ordered for this
patient?
1. a mammogram
2. a prostate exam
3. a colonoscopy
4. a cardiovascular assessment
Correct Answer: 4
Rationale 1: This patient does not necessarily have an increased risk of breast cancer because the patient’s mother
was diagnosed with breast cancer after the age of 50.
Rationale 2: The patient does not have an increased risk of prostate cancer because the patient’s uncle was
diagnosed with prostate cancer after the age of 60.
Rationale 3: The patient does not have an increased risk of developing colon cancer because the patient’s sister
was diagnosed with colon cancer after the age of 50.
Global Rationale: This patient should receive a cardiovascular assessment. The patient has an increased risk of
being diagnosed with a cardiovascular disease because the patient has two family members that were diagnosed
with cardiovascular disorders that developed early, when compared to other people. This patient does not
necessarily have an increased risk of breast cancer because the patient’s mother was diagnosed with breast cancer
after the age of 50. The patient does not have an increased risk of prostate cancer because the patient’s uncle was
diagnosed with prostate cancer after the age of 60. The patient does not have an increased risk of developing
colon cancer because the patient’s sister was diagnosed with colon cancer after the age of 50.
Question 39
Type: MCMA
The parents of a newborn diagnosed with cri du chat syndrome request information about this disorder. What
statements by the nurse are appropriate?
2. “These types of genetic problems are often the result of the patient missing some genes or having too much
genetic material.”
4. “Your baby’s syndrome is the result of a large deletion on the short arm of chromosome 5.”
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5. “Your baby has the low-set ears and mewing cry that is associated with this syndrome.”
Correct Answer: 1, 2, 4, 5
Rationale 1: A chromosomal alteration that includes a missing or additional whole chromosome or segment of a
chromosome is an unbalanced rearrangement.
Rationale 2: An unbalanced rearrangement can result in missing genes, confusing directions from the genes, or
too much gene product.
Rationale 4: Cri du chat syndrome results from a large deletion on the short arm of chromosome 5.
Rationale 5: Patients with cri du chat have mental retardation, crying that sounds like a cat mewing, and low-set
ears.
Global Rationale: A chromosomal alteration that includes a missing or additional whole chromosome or segment
of a chromosome is an unbalanced rearrangement. An unbalanced rearrangement can result in missing genes,
confusing directions from the genes, or too much gene product. Cri du chat syndrome results from a large deletion
on the short arm of chromosome 5. Patients with cri du chat have mental retardation, crying that sounds like a cat
mewing, and low-set ears. Translocation between chromosomes 9 and 22 is responsible for trisomy 21.
Question 40
Type: MCMA
The nurse working in a geneticist’s office is reviewing information about human cells with a patient. Which
patient statements indicate that an adequate amount of learning has occurred?
5. “Every human cell functions in the same way regardless of its location.”
Correct Answer: 1, 3
Rationale 1: Every human cell has 23 pairs of chromosomes. There are 46 chromosomes in each cell.
Rationale 2: Chromosomes are numbered according to size, largest to smallest. Chromosome 1 is largest and
chromosome 46 is smallest.
Global Rationale: Every human cell has 23 pairs of chromosomes. There are 46 chromosomes in each cell.
Chromosomes are numbered according to size, largest to smallest. Chromosome 1 is largest and chromosome 46
is smallest. Each human cell contains organelles such as mitochondria. The 23rd pair of chromosomes determines
the person’s gender. Human cells function very differently based on their location.
The nurse is reviewing the process of mitosis and meiosis with a patient receiving care in a fertility clinic. Which
patient statements are examples of scenarios that involve mitotic cell division?
Correct Answer: 2, 3, 4, 5
Rationale 2: Mitosis is the process of making new cells in bodily tissue. Cell division through mitosis heals
wounds on skin surfaces.
Global Rationale: Mitosis is the process of making new cells in bodily tissue. Cell division through mitosis heals
wounds on skin surfaces. The lining of the gastrointestinal tract is replaced by mitosis. A fetus grows through
mitotic cell division. The lining of the respiratory tract is replaced through mitosis. Sperm cells use meiosis to
divide.
Question 42
Type: MCMA
During a visit to a geneticist’s practice a patient with blue eyes asks the nurse to explain eye color, adding that his
mother had blue eyes and his father had brown eyes. What should the nurse include in this explanation?
1. “You have two identical alleles that are responsible for your eye color.”
2. “The alleles that are responsible for your eye color are heterozygous.”
Correct Answer: 2, 3, 4, 5
Rationale 1: This patient has a blue-eyed mother and a brown-eyed father, so the patient has two different forms
of the gene responsible for his eye color. The patient’s alleles are heterozygous.
Rationale 3: The patient’s blue eyes are the result of an expressed gene. An expressed gene impacts the patient’s
outward experience.
Rationale 4: Alleles are versions or forms of a gene. The patient’s eye color is part of his phenotype.
Rationale 5: The phenotype is the patient’s entire physical, biochemical, and physiologic makeup and is
influenced by genetic and environmental factors.
Global Rationale: This patient has a blue-eyed mother and a brown-eyed father, so the patient has two different
forms of the gene responsible for his eye color. The patient’s alleles are heterozygous. The patient’s blue eyes are
the result of an expressed gene. An expressed gene impacts the patient’s outward experience. Alleles are versions
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or forms of a gene. The patient’s eye color is part of his phenotype. The phenotype is the patient’s entire physical,
biochemical, and physiologic makeup and is influenced by genetic and environmental factors.
Question 43
Type: MCMA
The parents learn that their newborn has the CFTR gene located on chromosome 7. During counseling, what
should the parents be told about the ways that this genetic alteration may be expressed as the child grows?
1. The child develops normally without any clinical manifestations associated with cystic fibrosis.
4. The patient is counseled about the increased risk of developing Alzheimer disease.
5. The child exhibits some mild signs and symptoms associated with cystic fibrosis.
Correct Answer: 1, 2, 5
Rationale 1: The CFTR gene is a very large gene that is located on chromosome 7. Many different mutations of
the CFTR gene have been reported to be associated with the disease. The area of the CFTR gene that controls
mucous production can have more than 300 different gene alterations, resulting in a variety of symptoms that
range from no clinical manifestations at all to severe problems.
Rationale 3: The CFTR gene does not necessarily increase the patient’s risk for developing breast cancer.
Rationale 4: The CFTR gene does not necessarily increase the patient’s risk for developing Alzheimer disease.
Rationale 5: The area of the CFTR gene that controls mucous production can have more than 300 different gene
alterations resulting in a variety of symptoms that range from no clinical manifestations at all to severe problems.
The child may experience a mild form of cystic fibrosis.
Global Rationale: The CFTR gene is a very large gene that is located on chromosome 7. Many different
mutations of the CFTR gene have been reported to be associated with the disease. The area of the CFTR gene that
controls mucous production can have more than 300 different gene alterations resulting in a variety of symptoms
that range from no clinical manifestations at all to severe problems. The patient with severe cystic fibrosis may be
placed on a lung transplant list. The child may experience a mild form of cystic fibrosis. The CFTR gene does not
necessarily increase the patient’s risk for developing breast cancer or Alzheimer disease.
Question 44
Type: MCMA
The nurse at the geneticist’s office is caring for a 22-year-old patient who might have a mitochondrial mutation.
Which patient statements are most consistent with this information?
1. “My dad was unable to hear normally after the age of 15.”
4. “My dad and my uncle both had heart attacks when they were in their 40s.”
Correct Answer: 2, 3, 5
Rationale 1: The patient’s father developed deafness at an early age, and while this may be the result of a
mitochondrial genetic alteration, it is not necessarily as concerning to learn about because the father will be
unable to pass this mitochondrial mutation to his child.
Rationale 2: Mitochondrial genes and any diseases due to DNA alterations on those genes are transmitted through
the mother in a matrilineal pattern. An affected female will pass the mtDNA mutation to all of her children.
However, an affected male will not pass the mtDNA mutation to any of his children. The patient’s mother and
sister have small statures, and this may be related to a mitochondrial mutation.
Rationale 3: The patient’s mother and grandmother have a history of seizures, and this can indicate that they are
experiencing clinical manifestations associated with mitochondrial mutations.
Rationale 4: The patient’s father and uncle experienced myocardial infarctions at abnormally early ages, and
while this may be the result of a mitochondrial mutation, it is not as concerning because the father will be unable
to pass this mitochondrial mutation to his child.
Rationale 5: The patient’s development of ataxia and hypotonia is concerning for the nurse to learn about because
this can be associated with mitochondrial mutations.
Global Rationale: Mitochondrial genes and any diseases due to DNA alterations on those genes are transmitted
through the mother in a matrilineal pattern. An affected female will pass the mtDNA mutation to all of her
children. However, an affected male will not pass the mtDNA mutation to any of his children. The patient’s
mother and sister have small statures and this may be related to a mitochondrial mutation. The patient’s mother
and grandmother have a history of seizures and this can indicate that they are experiencing clinical manifestations
associated with mitochondrial mutations. The patient’s development of ataxia and hypotonia is concerning for the
nurse to learn about because this can be associated with mitochondrial mutations. The patient’s father developed
deafness at an early age and while this may be the result of a mitochondrial genetic alteration, it is not necessarily
as concerning to learn about because the father will be unable to pass this mitochondrial mutation to his child. The
patient’s father and uncle experienced myocardial infarctions at abnormally early ages and while this may be the
result of a mitochondrial mutation, it is not as concerning because the father will be unable to pass this
mitochondrial mutation to his child.
Question 45
Type: MCMA
A fetus is found to have an autosomal recessive condition. After genetic testing is completed, both of the fetus’
parents are found to have this same autosomal recessive genetic alteration. Which statements made by a parent
indicate that further education is required?
3. “So, we are carriers of this condition because we don’t have any signs of symptoms of this condition.”
4. “Our baby would have a better chance of living if we would have both been positive for an autosomal dominant
condition.”
Correct Answer: 1, 4
Rationale 1: Genetic alterations of the X chromosome are referred to as X-linked recessive or X-linked dominant
conditions.
Rationale 3: The parents denied having any clinical manifestations associated with the condition, so they are
most likely carriers of the condition.
Rationale 5: These types of conditions are monogenic because they affect one single gene.
Global Rationale: Genetic alterations of the X chromosome are referred to as X-linked recessive or X-linked
dominant conditions. Autosomal recessive conditions are the result of an alteration of any of the 22 non-sex
chromosomes. It is not necessarily true that the infant will die due to an autosomal recessive condition. The baby
that is affected by a homozygous autosomal dominant condition is much more likely to die from problems
associated with that type of condition. This is a Mendelian condition because it follows Mendel’s laws of
inheritance. The parents denied having any clinical manifestations associated with the condition so they are most
likely carriers of the condition. These types of conditions are monogenic because they affect one single gene.
Question 46
Type: MCMA
A married couple has two children at home who have been diagnosed with the same autosomal dominant
condition. The nurse is interviewing the couple after they become pregnant with their third child. Based on the
nurse’s understanding of related psychosocial issues, which statements by the mother may be expected?
1. “I feel so guilty.”
2. “I feel like my daughter is angry with me because I am the one who has this bad gene in my body.”
5. “I hope the new baby is a boy so he won’t have the same illness.”
Rationale 1: The parents of a child with a genetically transmitted disease may feel guilty.
Rationale 2: Some children may feel angry toward the parent who carries the altered gene.
Rationale 4: A child with a late-onset disease may be more likely to engage in risky and less socially acceptable
behaviors.
Rationale 5: Both males and females are equally affected with an autosomal dominant genetic disorder.
Global Rationale: The parents of a child with a genetically transmitted disease may feel guilty. Some children
may feel angry toward the parent who carries the altered gene. The parent or parents may feel angry or depressed.
A child with a late-onset disease may be more likely to engage in risky and less socially acceptable behaviors.
Both males and females are equally affected with an autosomal dominant genetic disorder.
Question 47
Type: MCMA
The nurse manager determines that a new staff nurse is capable of caring for patients with genetic disorders. What
information did the manager use to make this decision?
Correct Answer: 1, 2, 4, 5
Rationale 1: Basic interventions that meet the standards of genetic nursing include evaluating care provided to
patients.
Rationale 2: Basic interventions that meet the standards of genetic nursing include identifying patients’ needs for
referrals.
Rationale 3: The nurse should advocate for the patient based upon sound information and decisions. This does
not include advocating for pregnancy terminations.
Rationale 4: Basic interventions that meet the standards of genetic nursing include performing accurate and
thorough physical assessments.
Rationale 5: Basic interventions that meet the standards of genetic nursing include completing genetic-focused
family histories with patients.
Global Rationale: Basic interventions that meet the standards of genetic nursing include evaluating care provided
to patients, identifying patients’ needs for referrals, performing accurate and thorough physical assessments, and
completing genetic-focused family histories with patients. The nurse should advocate for the patient based upon
sound information and decisions. This does not include advocating for pregnancy terminations.
Question 48
Type: MCMA
Answer: 1, 2, 5
Rationale 1: The basic underlying principles of inheritance that nurses can apply to inheritance risk assessment
and teaching include that all genes are paired.
Rationale 2: The basic underlying principles of inheritance that nurses can apply to inheritance risk assessment
and teaching include that only one gene of each pair is transmitted (passed on) to an offspring.
Rationale 4: The father’s genes are not used to fill in genetic deficits in offspring.
Rationale 5: The basic underlying principles of inheritance that nurses can apply to inheritance risk assessment
and teaching include that one copy of each gene in the offspring comes from the mother and the other copy comes
from the father.
Global Rationale: The basic underlying principles of inheritance that nurses can apply to inheritance risk
assessment and teaching include: (1) all genes are paired, (2) only one gene of each pair is transmitted (passed on)
to an offspring, and (3) one copy of each gene in the offspring comes from the mother and the other copy comes
from the father. Both parents’ genes are transmitted to offspring. The father’s genes are not used to fill in genetic
deficits in offspring.
Answer: 1, 2, 4, 5
Rationale 1: Depending upon the results, family members may resent the patient for having a baby with a genetic
disorder.
Rationale 2: Depending upon the results, there might not be a treatment available for the disorder.
Rationale 3: Termination of pregnancy is not something that should be discussed at this time.
Rationale 4: The patient may or may not be able to care for the baby depending upon the genetic disorder.
Rationale 5: Since the health plan does provide genetic testing coverage, the plan will have information about the
testing.
Global Rationale: Depending upon the results, family members may resent the patient for having a baby with a
genetic disorder. Depending upon the results, there might not be a treatment available for the disorder.
Termination of pregnancy is not something that should be discussed at this time. The patient may or may not be
able to care for the baby depending upon the genetic disorder. Since the health plan does provide genetic testing
coverage, the plan will have information about the testing.
Question 50
Type: MCMA
The nurse is concerned that a patient pregnant with a fetus with a genetic disorder is experiencing moral and
ethical problems. What should the nurse offer to support the patient at this time?
Correct Answer: 1, 2, 4, 5
Rationale 1: Problems that a patient facing a genetic disorder may experience include spiritual distress,
ineffective coping, anxiety, and powerlessness. The use of coping mechanisms helps with the problem of
ineffective coping.
Rationale 2: Problems that a patient facing a genetic disorder may experience include spiritual distress,
ineffective coping, anxiety, and powerlessness. Actions to reduce stress and anxiety help with the problem of
anxiety.
Rationale 3: The nurse should help the patient with problem solving and not suggest termination of the
pregnancy.
Rationale 4: Problems that a patient facing a genetic disorder may experience include spiritual distress,
ineffective coping, anxiety, and powerlessness. Assisting the patient to think through the process to increase
optimism helps with the problem of powerlessness.
Rationale 5: Problems that a patient facing a genetic disorder may experience include spiritual distress,
ineffective coping, anxiety, and powerlessness. Asking about a spiritual advisor helps with the problem of
spiritual distress.
Global Rationale: Problems that a patient facing a genetic disorder may experience include spiritual distress,
ineffective coping, anxiety, and powerlessness. The use of coping mechanisms helps with the problem of
ineffective coping. Actions to reduce stress and anxiety help with the problem of anxiety. Assisting to think
through the process to increase optimism helps with the problem of powerlessness. Asking about a spiritual
advisor helps with the problem of spiritual distress. The nurse should help the patient with problem solving and
not suggest termination of the pregnancy.
Question 51
Type: MCMA
At the conclusion of a health history and physical assessment, the nurse determines that a patient might benefit
from genetic testing. What did the nurse assess to come to this conclusion?
1. Infertility
2. Seizure disorder
3. Menopause at age 32
4. Neighbor committed suicide
5. Cousin addicted to heroin
Correct Answer: 1, 2, 3
Rationale 3: Indications for a referral to a genetic specialist include premature ovarian failure as might be seen
with early menopause.
Global Rationale: Indications for a referral to a genetic specialist include infertility, seizure disorder, and
premature ovarian failure as might be seen with early menopause. A neighbor’s suicide and a cousin’s drug
addiction are not indications for a genetic specialist.
QSEN Competencies: I.A.1. Integrate understanding of multiple dimensions of patient centered care
AACN Essentials Competencies: IX.2. Recognize the relationship of genetics and genomics to health,
prevention, screening, diagnostics, prognostics, selection of treatment, and monitoring of treatment effectiveness,
using a constructed pedigree from collected family history information as well as standardized symbols and
terminology
NLN Competencies: Context and Environment; Practice; conduct population-based transcultural health
assessments and interventions
Nursing/Integrated Concepts: Nursing Process: Diagnosis
Learning Outcome: 3. Describe the significance of delivering genetic education and counseling follow-up in a
professional manner.
MNL Learning Outcome:
Page Number: 147