Chapter 08: Overview of Genetics and Genomics in Nursing
1. A baby is born with what the physician believes is a diagnosis of trisomy 21. This means that the
infant has three number 21 chromosomes. What factor describes the etiology of this genetic
change? The patient has a nondisjunction occurring during meiosis.
2. The nurse reviews a patients chart and notes that the patient has a gene mutation that affects
protein structure, producing hemoglobin S. The nurse knows that with this gene mutation, the
patient will experience symptoms of what? Thrombotic organ damage
3. During the admission assessment, the nurse notes many caf-au-lait spots on the patients trunk,
back, neck, and legs and suspects that the patient has neurofibromatosis. Based on the nurses
knowledge of neurofibromatosis, the nurse understands that a single family member has which of
the following? A spontaneous mutation
4. A 45-year-old man has just been diagnosed with Huntington disease. He and his wife are
concerned about their four children. What will the nurse understand about the children’s
possibility of inheriting the gene for the disease? Each child will have a 50% chance of inheriting
the disease.
5. A young woman and her husband want to start a family. The young woman explains to the nurse
that she had a retinoblastoma as a child. The woman and her husband are concerned about the
chances of their son or daughter developing a retinoblastoma. What is important for the nurse to
explain to the couple? retinoblastoma is an autosomal dominant inheritance that has incomplete
penetrance and can skip a generation.
6. A 47-year-old patient with osteoarthritis and hypertension is diagnosed with breast cancer. She
tells the nurse that her mother also suffered from osteoarthritis and hypertension, and she
developed breast cancer at the age of 51 years. The nurse should recognize that this patients
health status may be the result of what phenomenon? Multifactorial inheritance
7. While the nurse is taking the patients history, the patient tells the nurse she is trying to get
pregnant, and she is very fearful she will have another miscarriage. She states she has lost two
pregnancies and she share with the nurse that she does not know why she lost the babies. Based
on this patient’s history, what recommendation should the nurse make at the present time?
Encourage her explore the possibility of chromosome testing studies
8. A perinatal nurse is providing care for a primiparous woman who gave birth to a healthy infant
yesterday. The nurse explains to the patient the genetic screening that is mandated. What is the
nurses best rationale for this? This is a way to assess your infants risk for illnesses called
phenylketonuria (PKU), congenital hypothyroidism, and galactosemia.
9. A 50-year-old woman presents at the clinic with complaints of recent episodes of forgetfulness
and jerky head movements. She states her mother had some kind of illness in which she had to be
institutionalized at age 42 and passed away at age 45. She stated, My mother forgot who we were
when she was institutionalized. Based on this information, what does the nurse suspect?
Alzheimers disease
10. The occupational health nurse is conducting yearly health screenings. A 50-year-old man states,
My father had colon cancer, but I really don’t understand why that means that I need a
colonoscopy. What could the nurse do to disseminate information about screening to more
individuals? Plan a health fair for the employees that provides information about screening for
diseases that have an inheritance pattern.
11. In your role as the nurse at a genetics clinic, you are reviewing the health and genetic history of a
woman whose mother died of breast cancer. Which of the following is the most important factor
documented in the patient’s genetic history? Three generations of information about the family
12. A couple wants to start a family and they are concerned that their child will be at risk for cystic
fibrosis because they each have a cousin with cystic fibrosis. What should the nurse practitioner
tell them about cystic fibrosis? It is an autosomal recessive disorder.
13. A pregnant woman has a child at home who has been diagnosed with neurofibromatosis 1. She
asks the nurse what she should look for in her new baby that would indicate that it also has
neurofibromatosis 1. What sign should the nurse instruct the woman to look for in the new baby?
Caf-au-lait spots
14. A 46-year-old man, estranged from his siblings, has begun showing signs of dementia and has
been diagnosed with Alzheimer’s disease. The nurse tells him how important it is that he inform
his siblings of his disease. He refuses stating, I don’t want them to know. Let them find out on
their own. What should the nurse do? Instruct the patient on the importance of notifying the
siblings and keep his information confidential.
15. To explain the concept of autosomal recessive inheritance, a nurse is using the example of two
parents with two recessive genes each for six toes. What is the chance that this couple will have a
child with six toes? 25%
16. A woman has come to the clinic for her first prenatal visit after becoming pregnant for the first
time. She asks the nurse about age guidelines for genetic counseling and prenatal testing. The
nurse informs the patient that genetic counseling and prenatal testing should be performed for all
pregnant women in which age group? 35 and older
17. A 40-year-old man who has been separated from his father since early childhood tells the nurse
that his father recently contacted him to inform him that he is dying of Huntington disease. What
is an essential component of care for this patient? Provide genetic counseling, evaluation, and
testing for the disease
18. A nurse is participating in genetic counseling for a couple who are considering trying to conceive.
After the couple receives the results of genetic testing, the nurse should prioritize which of the
following? Psychosocial support
19. For what health problem would a patient of African American heritage most likely have genetic
carrier testing? Sickle cell anemia
20. Genetics-related health care is a component of holistic nursing practice. What action should a
nurse who practices in the area of genetics prioritize? Gathering relevant family and medical
history information
21. A nurse is providing care for a young couple who wish to start a family. In response to one of the
couples questions, the nurse is describing the concept of personalized medicine. To explain this
concept adequately, the nurse must understand which of the following? The new technologies and
treatments of genetic- and genomic-based health care
22. A nurse who works in a hospital clinic is describing ways of integrating genetics and genomics
into nursing practice. Which of the following actions is most consistent with this role? Informing
patients about the ethics of genetics and genomic concepts
23. A nurse is a part of an interdisciplinary team in a clinic that provides genetic screening and
genetic counseling. What is nursing’s unique contribution to genomic medicine? Its holistic
perspective
24. A nurse has begun a new role in a clinic that focuses on genetics and genomics. In this role, the
nurse will aim to help individuals and families understand which of the following? How genetic
and environmental factors influence health and disease
25. The nurse in the genetics clinic is conducting an assessment of a young man and woman who
have been referred to the clinic. When performing an assessment in this care setting, the nurse
would focus on what areas of assessment? Select all that apply.
Gathering family histories and health histories
Performing comprehensive physical assessments
26. A nurse who practices in a clinic that provides genetic counseling has obtained a clients family
history. This nurse has consequently completed the first step in what process? Establishing the
pattern of inheritance
27. Regardless of the setting in which they provide care, nurses are expected to know how to use the
first genetic test. What is this foundational genetic test? The family history
28. You are the nurse documenting the family history of an 81-year-old female patient newly
diagnosed with Alzheimer’s disease. What knowledge would influence your nursing
considerations for genetic testing? The genetic bases of adult-onset conditions such as Alzheimers
disease
29. A couple have come to the genetics clinic for their first visit. In taking their history, the nurse
learns that they are both Ashkenazi Jews. For what health problem would this couple be
genetically screened? Canavan disease
30. A woman with both heart disease and osteoarthritis has come to the genetics clinic for genetic
screening. What would the nurse know about these two diseases? They are multifactorial.
31. An adult patient has undergone genetic testing and the results reveal a genetic mutation that
allows clinicians to make accurate predictions about disease onset and progression. This model
for PR symptomatic testing is most likely being used to address what disease? Huntington disease
32. Three sisters decide to have genetic testing done because their mother and their maternal
grandmother died of breast cancer. Each of the sisters has the BRCA1 gene mutation. The nurse
explains that just because they have the gene does not necessarily mean that they will develop
breast cancer. On what does the nurse explain their chances of developing breast cancer depend?
Penetrance
33. Results of genetic testing have come back and the patient has just been told she carries the gene
for Huntington disease. The patient asks you if this information is confidential and if it will
remain that way. She is adamant that her fiancé and family members not be told of this finding.
What is the nurses best response? I will respect your wishes and keep your information
confidential. I do wish you would reconsider though.
34. A patient is devastated by the results of his genetic testing, stating, How am I ever going to get
health insurance with these kinds of risks? What legislation has as its purpose to protect
Americans against improper use of genetic and genomic information? Genetic Information
Nondiscrimination Act
35. A Spanish-speaking couple comes in for genetic testing. They are planning to start a family and
are concerned because the wife’s sister has cystic fibrosis. The clinics consent form is in English,
which the wife is able to read. However, the husband can speak and read only Spanish. The nurse
does not speak Spanish. What should the nurse do? Inform the geneticist that the couple cannot
give informed consent
36. A patient comes to the clinic for genetic testing. The nurse asks the patient to sign consent forms
to obtain the patients’ medical records. The patient wants to know why the geneticist needs their
old medical records. What is the nurses best response? Your medical information is needed so we
can provide the appropriate information and counseling to you.
37. A nurse is working with a young adult patient who underwent genetic testing that revealed her
high risk for developing Huntington disease later in life. The patient is deeply concerned about
how this may affect her future prospects for obtaining and maintaining adequate health insurance.
In response, the nurse has referred to the Health Insurance Portability and Accountability Act
(HIPAA). According to this legislation, insurers may use genetics testing as a justification for
what action? Charging the patient higher insurance premiums
38. Genetic testing reveals that an African American man and woman who are engaged to be married
are both carriers of the gene that causes sickle cell disease. When planning this couples follow-up
counseling, the nurse should recognize what implication of this assessment finding? There is a
25% chance that a child of the couple would have sickle cell disease.
39. A newly married couple have presented to a genetics clinic for testing. The husband tells the
nurse, It took me weeks to convince her to do this. I know that she’s the type of person who rather
not know about future risks until they come true. Based on the husbands statement, what nursing
diagnosis most likely applies to the wife? Anxiety related to possible results of genetic testing
40. A nurse is participating in the assessment portion of a couples genetic screening and testing. Early
in the assessment of the couples family history, the nurse learns that the husbands father and the
wife’s father are brothers. The nurse recognizes that this greatly increases the couples risk of what
health problems? Diseases with autosomal recessive inheritance