6

Chapter 6: Genetic Concepts for Medical-Surgical Nursing
Test Bank
MULTIPLE CHOICE
1. Which statement by the nurse indicates correct understanding of the purpose of a pedigree?
a. It is used for genetic counseling of the client by the geneticist.
b. It is used to show family history of a trait over at least three generations.
c. It is used to show a specific pattern of inheritance of a trait.
d. It is used to identify penetrance of a gene in a family.
ANS: B
A pedigree is a graph of a family history for a specific trait or health problem over several
generations. The other statements are inaccurate descriptions of the purpose of a pedigree.
DIF: Cognitive Level: Knowledge/Remembering
REF: p. 72
TOP: Client Needs Category: Physiological Integrity (Reduction of Risk PotentialPotential for
Alterations in Body Systems)
MSC: Integrated Process: Nursing Process (Assessment)
2. The client exhibits a trait that has appeared in every generation of his or her family. This is an
example of which type of inheritance?

a. Autosomal recessive
b. Sex-linked recessive
c. Autosomal dominant
d. Sex-linked dominant
ANS: C
Autosomal dominant (AD) single-gene traits require that the gene alleles controlling the trait
be located on an autosomal chromosome. A dominant gene allele is expressed even when only
one allele of the pair is dominant. Other criteria for AD patterns of inheritance include that the
trait appears in every generation with no skipping. Autosomal recessive, sex-linked recessive,
and sex-linked dominant types of inheritance do not require that the trait appear in every
generation of a family. Rather, in the case of sex-linked traits, the gender of family members
determines whether a trait will appear in a family.
DIF: Cognitive Level: Knowledge/Remembering
REF: p. 73
3. The client has a family history of breast cancer. The physician has recommended that she
undergo genetic testing. What action is most important for the nurse to take before scheduling
the client for the procedure?
a. Making certain the client is prepared for the risk of psychological side effects
b. Obtaining informed consent from the client and placing it on the chart
c. Simultaneously scheduling genetic counseling with an advanced practice nurse
d. Carefully explaining the procedure to the client and assuring her confidentiality
ANS: B
Informed consent is required before genetic testing is undertaken. The person tested is the one
who gives consent, even though genetic testing always gives information about a family and
family members, not just the client. Although the procedure must be explained to the client
and she must be prepared for the psychological effect of undergoing testing, the procedure
cannot occur without an informed consent.
DIF: Cognitive Level: Application/Applying or higher
REF: N/A
TOP: Client Needs Category: Safe and Effective Care Environment (Management of CareInformed
Consent)
MSC: Integrated Process: Communication and Documentation
4. The client undergoes genetic testing but chooses not to be told the results of the testing once it
is completed. Which action is most important for the nurse to implement?

Encourage the client to ask for the results of the genetic testing.
Share the results of the testing with the clients family members.
Explain to the client how this choice may affect other family members.
Respect the clients right to not know the results of the testing.
a.
b.
c.
d.
ANS: D
The right to know genetic risk versus the right to not know is the individual clients choice.
The nurse should respect the clients rights. It would not be appropriate for the nurse to
encourage the client to ask for the results because this is a personal issue. The nurse would
never share results with others because this is a violation of the Health Insurance Portability
and Accountability Act (HIPAA). The client probably realizes that this choice affects other
family members. The nurse would not have to explain this.
REF: N/A
TOP: Client Needs Category: Safe and Effective Care Environment (Management of CareClient
Rights)
MSC: Integrated Process: Caring
5. The nurse has been working with a client who has asked to receive the results of genetic
testing. What will the nurse do before discussing the results with the client?
a. Obtain a signed and witnessed informed consent form and place it on the clients
chart.
b. Assess the clients ability to communicate clearly with the nurse and other
personnel.
c. Reassure the client that it is not necessary to inform other family members of the
test results.
d. Encourage the client to agree to undergo several sessions of further counseling.
ANS: B
The nurse has to assess the clients ability to receive and process information before giving
results. Informed consent forms are obtained before blood is obtained for testing. The nurse
would not reassure the client that it was not necessary to tell family members. This is
something the client will need to decide. The nurse can suggest counseling, if necessary, but
does not have to encourage the client to have counseling before giving him or her the results
of testing.
REF: N/A
TOP: Client Needs Category: Health Promotion and Maintenance (Principles of Teaching/Learning)
MSC: Integrated Process: Teaching/Learning
6. Which client needs to undergo carrier genetic testing?

a. A middle-aged man whose father died at age 48 of colorectal cancer
b. A young woman who has all the symptoms of rheumatoid arthritis
c. A middle-aged woman whose mother died at age 52 of breast cancer
d. A young woman of Eastern European Jewish ancestry
ANS: D
The client who is of Eastern European Jewish ancestry would be given the highest priority to
undergo carrier genetic testing. It is known that Ashkenazi Jews carry several genetic
disorders. The client with a family history of breast cancer and colorectal cancer would
undergo predisposition testing. The client with symptoms of rheumatoid arthritis would
undergo symptomatic diagnostic testing.
REF: N/A
7. The client has just completed the first session of genetic counseling. Which intervention will
the nurse perform next?

a. Assessing the phase of the grieving process most applicable to the client at this
time
b. Asking the client to explain the various terms used in the discussion
c. Determining whether the client has adequate coping methods to deal with the
counseling process
d. Asking the client to explain expectations and how they may have changed after the
session
ANS: D
After any discussion about genetic risk or genetic testing, the nurse would assess the clients
understanding of what was said and how the information may affect decisions in the future.
The client may not be in the grieving process at this time. The nurse does not have to ask the
client to explain each term after the session. However, the nurse should have encouraged the
client to ask questions throughout the session. Although it is important to assess coping in the
client, this is usually done after understanding is assessed. Support can then be offered to the
client.
REF: N/A
8. The client has just completed genetic testing and received a negative result. The client tells the
nurse that he feels guilty because so many of his family members are carriers of a genetic
disease but he is not. What is the nurses best response?
a. Make certain that the client recognizes that although he is not a carrier of the
disease, he could still be symptomatic.
b. Encourage the client to undergo a second round of testing to verify that the result
was accurate.
c. Arrange for the client to undergo counseling and offer support to him during this
time.
d. Emphasize to the client the importance of revealing his test results to other family
members.
ANS: C
Clients who have negative genetic test results need counseling and support. Some clients may
have an unrealistic view of what a negative result means for their general health. Others may
feel guilty that they were spared when some family members were not. The client will not
be symptomatic if he is not a carrier of the disease. A second round of testing is not
recommended, because false-negatives are rare with this type of testing. It is the clients
choice to reveal test results to family members; the nurse should not encourage him to do this.
REF: N/A
TOP: Client Needs Category: Psychosocial Integrity (Support Systems)
MSC: Integrated Process: Caring
9. A client is not certain whether she and her family should participate in a genetic screening
plan. She asks the nurse why the X-linked recessive disorder that has been noted in some of
her family members is expressed in males more frequently than in females. What is the
nurses best response?
a. The disease tends to show up in males because they dont have a second X
chromosome to balance expression of the gene.
b. One X chromosome of a pair is always inactive in females. This inactivity
effectively negates the effects of the gene.
c. Females are known to have more effective DNA repair mechanisms than males,
thus negating the damage caused by the recessive gene.
d. Expression of genes from the males Y chromosome does not occur in females, so
they are essentially immune to the effects of the gene.
ANS: A
Because the number of X chromosomes in males and females is not the same (1:2), the
number of X-linked chromosome genes in the two genders is also unequal. Males have only
one X chromosome, a condition called hemizygosity, for any gene on the X chromosome. As a
result, X-linked recessive genes have a dominant expressive pattern of inheritance in males
and a recessive expressive pattern of inheritance in females. This difference in expression
occurs because males do not have a second X chromosome to balance the expression of any
recessive gene on the first X chromosome. It is incorrect to say that one X chromosome of a
pair is always inactive in females, or that females have more effective DNA repair
mechanisms than males. Also, it is not true that females can be immune to the effects of a
gene because genes from the males Y chromosome are not expressed in females.
DIF: Cognitive Level: Comprehension/Understanding
REF: p. 74
10. The client has been found to have a genetic mutation that increases the risk for colon cancer.
The client does not want any family to know about this result. What is the nurses best
response?
a. It is required by law that you inform your siblings and your children about this
result so that they also can be tested and monitored for colon cancer.
b. It is not necessary to tell your siblings because they are adults, but you should tell
your children so that they can be tested before they decide to have children of their
own.
c. It is not required that you tell anyone about this result. However, because your
siblings and children may also be at risk for colon cancer, you should think about
how this information might help them.
d. It is your decision to determine with whom, if anyone, you discuss this test result.
However, if you do not tell any of your family members and they get colon cancer,
you could be held liable.
ANS: C
This situation represents an ethical dilemma. It is the clients decision whether to disclose the
information. However, the information can affect others in the clients family. The law does
not require the client to tell family members about the results, nor can the client be held liable
for not telling them. The nurse may consider it ethically correct for the client to tell family
members so that they can take action to prevent the development of cancer, but the nurse must
respect the clients decision.
REF: N/A
TOP: Client Needs Category: Psychosocial Integrity (Therapeutic Communication)
11. Which response is accurate regarding a client who has type O blood? The client has:
a. A genotype of AO
b. A genotype of OO
c. Heterozygous alleles
d. A different genotype and phenotype
ANS: B
The blood type O allele is recessive, and both alleles must be type O (homozygous) for the
person to express type O blood. In type O blood, the genotype and the phenotype are the
same. If only one allele is a type O allele and the other allele is type A or type B, the dominant
allele will be expressed and the O allele, although present, will not be expressed. When a
person has heterozygous alleles for a trait, the phenotype and the genotype are not always the
same as with type AB blood.
REF: p. 70
TOP: Client Needs Category: Physiological Integrity (Physiological AdaptationPathophysiology)
12. Which statement regarding genotype and phenotype is accurate?
a. For autosomal recessive traits, the phenotype is the same as the genotype.
b. The only trait in which phenotype always follows genotype is physiologic gender.
c. When a phenotype is fully penetrant, the trait is expressed in the heterozygous
person.
d. Genotype changes as a person ages, whereas phenotype is not affected by the aging
process.
ANS: A
Genotype refers to the exact alleles of a single gene trait. Phenotype refers to the observable
characteristics present when a gene is expressed. For recessive traits, because both alleles
must be the same (homozygous) for the gene to be expressed, the phenotype and the genotype
are the same. Dominant traits are expressed in the phenotype, even when the persons
genotype is heterozygous for the alleles. Physiologic gender is not the only trait in which
phenotype always follows genotype, nor is a trait necessarily expressed in the heterozygous
person because a phenotype is fully penetrant. Also, both phenotype and genotype, as with
other aspects of the genetic makeup of the individual, are affected by the aging process. The
other statements are inaccurate descriptions of genotype and phenotype.
REF: p. 70
13. Which statement best describes the concept of multifactorial inheritance?
a. A mutation in a single gene results in the expression of problems in a variety of
tissues and organs.

b. Susceptibility to a problem is inherited as a single gene trait, but development of
the problem is enhanced by environmental conditions.

c. A mutated gene is inherited, but the results of expression of that gene are not
evident until middle or late adulthood.

d. Several genes are responsible for the mechanism of hearing, and a mutation in any
one of them results in hearing impairment.

ANS: B
Multifactorial inheritance indicates an interaction between a genetic predisposition and the

environment. Although the predisposition to developing a health problem may be inherited,
whether the problem is ever expressed is determined by environmental influences, including
lifestyle. Some common adult health problems that are multifactorial include hypertension,
obesity, diabetes mellitus, and some types of cancer. Multifactorial inheritance does not refer
to mutations in one gene that result in problems in many tissues and organs. Although it is true
that a gene mutation may not become evident until later in life, this is not the definition of
multifactorial inheritance. It does not refer to mutations in several genes or to conditions in
which several genes are involved.
REF: p. 74
14. A clients father has hemochromatosis. Which type of genetic testing would be the primary
type that is most appropriate for the client to have?

Presymptomatic
Predisposition
Diagnostic
Carrier
a.
b.
c.
d.
ANS: D
Hereditary hemochromatosis is an autosomal recessive disorder. The purpose of genetic

testing for this client would be to determine whether he or she has one mutated gene allele (is
a carrier) and could transmit this disorder to his or her children. All genetic testing is
diagnostic in nature. Presymptomatic genetic testing is used with Huntington disease.
Predisposition testing is used with colorectal cancer and breast cancer.
REF: Table 6-4, p. 75
TOP: Client Needs Category: Physiological Integrity (Reduction of Risk PotentialDiagnostic Tests)
MSC:
Integrated Process: Nursing Process (Assessment)
15. Which disorder qualifies a client for presymptomatic diagnostic genetic testing?
a. Colorectal cancer
b. Huntington disease
c. Hemophilia
d. Tay Sachs disease
ANS: B
Of the disease processes listed, the only one that would make a client a candidate for
presymptomatic diagnostic genetic testing is Huntington disease.
MSC:
16. Which disorder presents a need for predisposition genetic testing?
a. Huntington disease
b. Sickle cell disease
c. Hemophilia
d. Breast cancer
ANS: D
Of the disease processes listed, the only one that would make a client a candidate for
predisposition diagnostic genetic testing is breast cancer.
MSC:
17. The client, whose mother has Huntington disease, is considering genetic testing but is not sure
whether she really wants to know the results. She asks what the nurse would do in her
situation. What is the nurses best response?
a. I would have the test so I could decide whether to have children or to adopt
children.
b. I can only tell you the benefits and the risks of testing. You must make this
decision yourself.
c. Because there is no cure for this disease and testing would not be beneficial, I
would not have the test.
d. You need to check with your brothers and sisters to determine whether testing for
this disease would be appropriate for you.
ANS: B
Any level of genetic counseling requires the counselor to be nondirective. The counselor must
ensure that the client has adequate and accurate information on which to base the decision but
cannot suggest or direct the client to test or not to test. The client may wish to discuss the
issue with her family, but ultimately the decision about testing can be made only by the client.
REF: N/A
TOP: Client Needs Category: Psychosocial Integrity (Therapeutic Communication)
18. The client, who has been found to have a mutation in the BRCA1 gene allele and to be at
increased risk for breast and ovarian cancer, has asked the nurse to be present when she
discloses this information to her adult daughter. What is the nurses role in this situation?
a. To act as the primary health care provider
b. To function as a genetic counselor
c. To serve as a client advocate
d. To provide client support
ANS: D
The nurse should be supporting the client emotionally while the client tells her daughter the
information she has learned about the test results. The nurse should not interpret the results
nor counsel the client or her daughter. The nurse should refer the client for counseling or
support, if necessary.
REF: N/A
TOP: Client Needs Category: Psychosocial Integrity (Support Systems)
MSC: Integrated Process: Nursing Process (Implementation)
19. After genetic testing, a client is found to have a specific mutation in the a1AT gene (alpha1-
antitrypsin). What is the best action for the nurse to take to guide the client?
a. Advise scheduling an annual mammogram and ovarian ultrasound.
b. Assess whether close family members have other identified genetic problems.
c. Suggest limiting exposure to secondhand smoke and other respiratory irritants.
d. Advise that cancer may be a risk but not a certainty for this mutation.
ANS: C
The a1AT gene mutation increases risk for developing early-onset emphysema. By limiting
exposure to smoke and other respiratory irritants, there is less environmental influence that
may aggravate an early onset of emphysema. This gene mutation does not promote cancer, nor
does it occur with other identified genetic problems. The BRCA1 gene mutation gives the
client a higher risk for developing breast cancer. Because of the higher risk of this type of
cancer, mammogram and ovarian ultrasound are advised to be performed yearly.
REF: N/A
TOP: Client Needs Category: Health Promotion and Maintenance (Health Promotion/Disease
Prevention)
20. Which client response best indicates that the client has concerns about a genetic link to a
specific condition?
a. Heart disease in women seems to be a growing concern in the United States.
b. Obesity is prevalent in the elementary school age population.
c. My grandmother died of both breast and bone cancer at age 50.
d. Both my aunt and my second cousin have osteoarthritis.

ANS: C
The first two responses are general statements about health problems in the United States.
Osteoarthritis is not necessarily a genetically linked problem. Breast cancer with metastasis is
considered an autosomal dominant inherited condition that may prompt a client to inquire
about genetic testing and counseling. The nurse may be the first person to verify information
that has genetic implications for the client.
REF: N/A
TOP: Client Needs Category: Health Promotion and Maintenance (Health Promotion/Disease
Prevention)
MULTIPLE RESPONSE
1. What client diagnosis indicates a need for carrier genetic testing? (Select all that apply.)
a. Colorectal cancer
b. Huntington disease
c. Sickle cell disease
d. Hemophilia
e. Breast cancer
f. Cystic fibrosis
g. Tay Sachs disease
ANS: C, D, F, G
Of the disease processes listed, the ones that would make the client a candidate for carrier
genetic testing would be sickle cell disease, hemophilia, cystic fibrosis, and Tay Sachs disease.
Although colorectal cancer, Huntington disease, and breast cancer all have genetic
components, there is no evidence that carrier genetic testing would be beneficial in diseases
such as these.
MSC:
2. The client has just been typed and crossmatched for a unit of blood. Which statements by the
nurse indicate a need for further genetic education? (Select all that apply.)
a. The client can receive any unit of blood because all blood types are basically the
b.
c.
d.
e.
same.
Blood type is formed from three possible gene alleles: A, B, and O.
Each blood type allele is inherited from the mother or the father.
If the clients blood type is AB, then the client is homozygous for that trait.
If the client has a dominant and a recessive blood type allele, only the dominant
will be expressed.
ANS: A, D
All blood types are not the same. There are three possible gene alleles: A, B, and O. The blood
type OO is homozygous in contrast to the blood type AB, which is heterozygous. In the blood
type AO, the gene allele A is dominant and will be expressed as blood type A. It is true that
each blood type allele is inherited from the mother or the father.

REF: p. 68
MSC: Integrated Process: Nursing Process (Implementation)
3. In the hospital, the nurse is caring for a client of Asian descent who was just started on
warfarin (Coumadin). What would be the best plan of care for the client? (Select all that
apply.)
a. Start warfarin at a high dose to decrease the chance for further clotting problems.
b. Monitor international normalized ratio (INR) once a day in the hospital.
c. Teach the client to frequently check for any bruising.
d. Initiate fall precautions and strict activity limitations.
e. Start warfarin at a lower-than-normal dose owing to slower metabolism of the drug.
ANS: B, C, E
Most individuals of Asian heritage have a single nucleotide polymorphism in the CYP2C19
gene that results in low activity of the enzyme produced. This mutation greatly reduces the
metabolism of warfarin, leading to increased bleeding risks and other serious side effects. Any
person of Asian heritage who needs anticoagulation therapy should be started on very low
dosages of warfarin and should have his or her international normalized ratio (INR) monitored
more frequently. The nurse can always teach about the risk of bleeding and can monitor for
any bruising. It is not necessary to initiate fall precautions and to limit activity based on the
administration of warfarin.
REF: N/A
TOP: Client Needs Category: Physiological Integrity (Pharmacological and Parenteral Therapies
Medication Administration) MSC:
Integrated Process: Nursing Process (Planning)
4. A client recently underwent genetic testing that revealed that she has a BRCA1 gene mutation
for breast cancer. What are the best actions of the nurse? (Select all that apply.)
Encourage genetic counseling for self and family.
Disclose the information to the medical insurance company.
Recommend selfbreast examination every week.
Assess the clients response to the test results.
Aid in making a plan for prevention and risk reduction.
a.
b.
c.
d.
e.
ANS: A, D, E
The medical-surgical nurse can assess the clients response to the test results and encourage
genetic counseling for self and family. For some positive genetic test results, such as having a
BRCA1 gene mutation, the risk for developing breast cancer is high but is not a certainty.
Because the risk is high, the client should have a plan for prevention and risk reduction. One
form of prevention is early detection. Selfbreast examinations are helpful when performed
monthly, but those performed every week may not be useful, especially around the time of
menses. A client who tests positive for a BRCA1 mutation should have at least yearly
mammograms and ovarian ultrasounds to detect cancer at an early stage, when it is more
easily cured. Owing to confidentiality, the nurse would never reveal any information about a
client to an insurance company without the clients permission.
REF: N/A
TOP: Client Needs Category: Health Promotion and Maintenance (Health Screening)
MSC: Integrated Process: Nursing Process (Planning)

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Chapter 6: Genetic Concepts for Medical-Surgical Nursing

example of which type of inheritance?

is completed. Which action is most important for the nurse to implement?

6. Which client needs to undergo carrier genetic testing?

the nurse perform next?

tissues and organs.

the problem is enhanced by environmental conditions.

evident until middle or late adulthood.

one of them results in hearing impairment.

Multifactorial inheritance indicates an interaction between a genetic predisposition and the

type that is most appropriate for the client to have?

Hereditary hemochromatosis is an autosomal recessive disorder. The purpose of genetic

d. Both my aunt and my second cousin have osteoarthritis.

DIF: Cognitive Level: Comprehension/Understanding

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