Deck 8: Overview of Genetics and Genomics in Nursing

Question 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?

A) The mother also has genetic mutation of chromosome 21 .
B) The patient has a nondisjunction occurring during meiosis.
C) During meiosis, a reduction of chromosomes resulted in 23 .
D) The patient will have a single $\mathrm{X}$ chromosome and infertility.

Answer 1

The patient has a nondisjunction occurring during meiosis.

Question 2

The nurse reviews a patients chart and notes that the patient has a gene mutation that affects protein structure, producing hemoglobin $\mathrm{S}$ . The nurse knows that with this gene mutation, the patient will experience symptoms of what?

A) Peripheral and pulmonary edema
B) Thrombotic organ damage
C) Metastasis of a glioblastoma
D) Amyotrophic lateral sclerosis

Answer 2

Thrombotic organ damage

Question 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) A spontaneous mutation
B) A germline mutation
C) A nondisjunction
D) A monosomy

Answer 3

A spontaneous mutation

Question 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 childrens possibility of inheriting the gene for the disease?

A) Each child will have a $25 \%$ chance of inheriting the disease.
B) Each child will have a $50 \%$ chance of inheriting the disease.
C) Each child will have a $75 \%$ chance of inheriting the disease.
D) Each child will have no chance of inheriting the disease.

Question 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?

A) Retinoblastoma is an autosomal recessive inheritance in which each parent carries the gene mutation.
B) Retinoblastoma is an $\mathrm{X}$ -linked inheritance and all males inherit an $\mathrm{X}$ chromosome from their mothers.
C) Retinoblastoma is an autosomal dominant inheritance that has incomplete penetrance and can skip a generation.
D) Retinoblastoma is a pattern that is more horizontal than vertical; relatives of a single generation tend to have the condition.

Question 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?

A) X-linked inheritance
B) Autosomal recessive inheritance
C) Autosomal dominant inheritance
D) Multifactorial inheritance

Question 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 shares with the nurse that she does not know why she lost the babies. Based on this patients history, what recommendation should the nurse make at the present time?

A) Instruct her to continue to try to get pregnant
B) Let the patient know that her loss may not occur again
C) Encourage her explore the possibility of chromosome testing studies
D) Instruct her to have an amniocentesis with the next pregnancy

Question 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?

A) Genetic screening is a way to determine the rate of infectious disease in babies during this vulnerable time in their lives.
B) It is important to screen newborns to determine their future cancer risk and appraise the quality of prenatal care they received.
C) This is a way to assess your infants risk for illnesses called phenylketonuria (PKU), congenital hypothyroidism, and galactosemia.
D) This testing is required and you will not be able to refuse it. It usually is free so there is no reason to refuse it.

Question 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?

A) Huntington disease
B) Schizophrenia
C) Cerebrovascular accident
D) Alzheimers disease

Question 10

The occupational health nurse is conducting yearly health screenings. A 50-year-old man states, My father had colon cancer, but I really dont understand why that means that I need a colonoscopy. What could the nurse do to disseminate information about screening to more individuals?

A) Plan a health fair for the employees that provides information about screening for diseases that have an inheritance pattern.
B) Refer each employee over the age of 50 to a gastroenterologist.
C) Create a Web site on diet and exercise as it relates to the prevention of colon cancer in people over 50.
D) Place brochures in the nurses facility for the employees to access in answering their questions.

Question 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 patients genetic history?

A) Three generations of information about the family
B) Current medications taken
C) Health problems present in the womans children
D) Immunizations received for the past three generations

Question 12

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?

A) Increased urination
B) Projectile vomiting
C) Caf-au-lait spots
D) Xanthoma

Question 13

A 46-year-old man, estranged from his siblings, has begun showing signs of dementia and has been diagnosed with Alzheimers disease. The nurse tells him how important it is that he inform his siblings of his disease. He refuses stating, I dont want them to know. Let them find out on their own. What should the nurse do?

A) Call the patients brother and inform him of his risk for development of Alzheimers disease.
B) Notify the geneticist and have him instruct the patient on his siblings and parents risk.
C) Notify the siblings physicians about the patients risk for development of Alzheimers disease.
D) Instruct the patient on the importance of notifying the siblings and keep his information confidential.

Question 14

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?

A) 25%
B) 50%
C) 75%
D) 100%

Question 15

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?

A) 18 to 21
B) 40 and older
C) 35 and older
D)18 and under

Question 16

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?

A) Assist the patient in determining signs of neuromuscular weakness
B) Instruct the man on treatment options for Huntington disease
C) Teach the man how to avoid passing Huntington disease to his own children
D) Provide genetic counseling, evaluation, and testing for the disease

Question 17

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?

A) Secondary illness prevention
B) Psychosocial support
C) Gene therapy
D) Assessing adherence to treatment

Question 18

For what health problem would a patient of African American heritage most likely have genetic carrier testing?

A) Meckels diverticulum
B) Sickle cell anemia
C) Huntington disease
D) Rubella

Question 19

Genetics-related health care is a component of holistic nursing practice. What action should a nurse who practices in the area of genetics prioritize?

A) Teaching families about the different patterns of inheritance
B) Gathering relevant family and medical history information
C) Providing advice on termination of pregnancy
D) Discouraging females from conceiving after the age of 40 years

Question 20

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?

A) That personalized medicine is, by definition, holistic
B) That collaboration is essential in genomic medicine
C) The ethical basis for genomic medicine
D) The new technologies and treatments of genetic- and genomic-based health care

Question 21

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?

A) Planning treatment modalities for diseases that have patterns of inheritance
B) Processing tissue samples to obtain genetic information
C) Choosing options for patients after genetic testing has been completed
D) Informing patients about the ethics of genetics and genomic concepts

Question 22

A nurse is a part of an interdisciplinary team in a clinic that provides genetic screening and genetic counseling. What is nursings unique contribution to genomic medicine?

A) Its physical assessment capabilities
B) Its holistic perspective
C) Its biopsychologic focus
D) Its evaluation capabilities

Question 23

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?

A) How genetic and psychological factors influence coping
B) How genomic and physical factors influence longevity
C) How genetic and environmental factors influence health and disease
D) How physical factors influence genetics and wellness

Question 24

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.

A) Assessing patients personality strengths and weaknesses
B) Performing assessments of patients patterns of behavior
C) Assessing the genetic characteristics of patients blood samples
D) Gathering family histories and health histories
E) Performing comprehensive physical assessments

Question 25

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?

A) Establishing the pattern of inheritance
B) Influencing the clients genetic future
C) Answering the clients genetic questions
D) Answering the clients relational questions

Question 26

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?

A) The developmental assessment
B) The family history
C) The physical assessment
D) The psychosocial assessment

Question 27

You are the nurse documenting the family history of an 81-year-old female patient newly diagnosed with Alzheimers disease. What knowledge would influence your nursing considerations for genetic testing?

A) What genetic tests predict the patients husbands risk of Alzheimers disease
B) What actions the geneticist has recommended for treating the disease
C) The genetic bases of adult-onset conditions such as Alzheimers disease
D) Whether any of the patients peers have Alzheimers disease

Question 28

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?

A) Huntington disease
B) Trisomy 21
C) Alzheimers disease
D) Canavan disease

Question 29

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?

A) They are multifactorial.
B) They are direct result of the patients lifestyle.
C) They are caused by a single gene.
D) They do not have a genetic basis.

Question 30

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 presymptomatic testing is most likely being used to address what disease?

A) Alzheimers disease
B) Huntington disease
C) Tay-Sachs disease
D) Sickle cell disease

Question 31

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?

A) Sensitivity
B) Conductivity
C) Penetrance
D) Susceptibility

Question 32

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 fianc and family members not be told of this finding. What is the nurses best response?

A) I am ethically bound to tell your family and your fianc.
B) Your information will remain confidential until the geneticist reviews everything. Then he or she will have to tell your family.
C) Have you thought about what this disease will do to the person you are going to marry and any children you may have?
D) I will respect your wishes and keep your information confidential. I do wish you would reconsider though.

Question 33

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?

A) Genetic Information Nondiscrimination Act
B) Genetic Confidentiality Agreement
C) The White Paper on Genetic Testing Results
D) Genetic Equity Act

Question 34

A Spanish-speaking couple comes in for genetic testing. They are planning to start a family and are concerned because the wifes 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?

A) Inform the patients they need to sign so the testing can be done
B) Inform the geneticist that the couple cannot give informed consent
C) Let the wife translate the form for her husband
D) Explain the form to the patient in simple English and have him sign it

Question 35

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?

A) We always get old medical records just in case we need them.
B) This is just part of the due diligence that we practice here at the clinic.
C) Your medical information is needed so we can provide the appropriate information and counseling to you.
D) We need your medical records in case there is something about your medical history that you forget to tell us.

Question 36

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?

A) Denying the patient health insurance
B) Charging the patient higher insurance premiums
C) Requiring the patient to enroll in Medicaid
D) Requiring the patient to carry out a health promotion plan

Question 37

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?

A) There is a $25 \%$ chance that a child of the couple would have sickle cell disease.
B) The man and woman each have an increased risk of developing sickle cell disease later in life.
C) There is $50 \%$ risk of sickle cell disease for each of the couples children.
D) Their childrens risk of sickle cell disease will depend on a combination of genetics and lifestyle factors.

Question 38

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 shes the type of person whod rather not know about future risks until they come true. Based on the husbands statement, what nursing diagnosis most likely applies to the wife?

A) Situational low self-esteem related to reluctance to have genetic testing
B) Powerlessness related to results of genetic testing
C) Ineffective health maintenance related to reluctance to have genetic testing
D) Anxiety related to possible results of genetic testing

Question 39

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 wifes father are brothers. The nurse recognizes that this greatly increases the couples risk of what health problems?

A) Diseases that have a multifactorial pattern of inheritance
B) Diseases with autosomal recessive inheritance
C) Autosomal dominant disease
D) X-linked diseases