Question 1

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?

Accepted Answer

There are important roles for nurses in assessing predictive genetic and genomic factors using family history and the results of genetic tests effectively, informing patients about genetics and genomic concepts, understanding the personal and societal impact of genetics and genomic information, and valuing the privacy and confidentiality of genetics and genomic information. Nurses do not normally plan medical treatment, process tissue samples, or make choices for patients.

Question 2

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?

Accepted Answer

The unique contribution of nursing to genomic medicine is its holistic perspective that takes into account each persons intellectual, physical, spiritual, social, cultural, biopsychologic, ethical, and esthetic experiences. The other answers are incorrect because nursings assessment and evaluation capabilities are used in all areas where nursing is practiced. Nursing is not unique in having biopsychologic considerations.

Question 3

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?

Accepted Answer

Nurses help individuals and families learn how genetic traits and conditions are passed on within families as well as how genetic and environmental factors influence health and disease. Longevity and coping are not direct focuses of this area of nursing practice. Physical factors do not influence genetics.

Question 4

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.

Accepted Answer

Nurses obtain genetics information by gathering family and health histories and conducting physical and developmental assessments. Behavior and coping are not focuses of genomics nursing and nurses do not normally analyze blood samples.

Question 5

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?

Accepted Answer

Nursing assessment of the patients health includes obtaining and recording family history information in the form of a pedigree. This is a first step in establishing the pattern of inheritance. A nursing assessment in this context does not answer the patients genetic questions or the clients relational questions. The clients genetic future is not normally manipulated.

Question 6

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?

Accepted Answer

The family history is considered the first genetic test. It is expected that all nurses will know how to use this genetic tool. The other answers are incorrect because the developmental, physical, and psychosocial assessments are not the first genetic test.

Question 7

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?

Accepted Answer

Knowledge of adult-onset conditions and their genetic bases (i.e., mendelian versus multifactorial conditions) influences the nursing considerations for genetic testing and health promotion. Genetic testing will not identify a spouses or peers risk of the disease. A geneticist would not make medical treatment recommendations.

Question 8

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?

Accepted Answer

People of Ashkenazi Jewish descent (Jews of Eastern European origin) are screened for conditions such as Tay-Sachs disease and Canavan disease. The other answers are incorrect because Huntington disease, trisomy 21, and Alzheimers disease are not associated with Ashkenazi Jews.

Question 9

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?

Accepted Answer

Genomic or multifactorial influences involve interactions among several genes (genegene interactions) and between genes and the environment (geneenvironment interactions), as well as the individuals lifestyle. These diseases have a genetic basis, but neither results from a single gene. The diseases are not solely to result of lifestyle factors.

Question 10

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?

Accepted Answer

Huntington disease has served as the model for presymptomatic testing because the presence of the genetic mutation predicts disease onset and progression. Presymptomatic testing is not typically undertaken in the identification of sickle cell, Tay-Sachs, or Alzheimers disease because current technologies do not allow for this.

Question 11

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?

Accepted Answer

A woman who has the $B R C A 1$ hereditary breast cancer gene mutation has a lifetime risk of breast cancer that can be as high as $80 \%$, not $100 \%$. This quality, known as incomplete penetrance, indicates the probability that a given gene will produce disease. The other answers are incorrect because sensitivity, conductivity, and susceptibility are not the central concepts inBRCA1 gene mutation.

Question 12

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?

Accepted Answer

The nurse must honor the patients wishes while explaining to the patient the potential benefit this information may have for other family members. The other answers are incorrect because the nurse ultimately has to honor the wishes of the patient.

Question 13

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?

Accepted Answer

Nurses need to become familiar with the Genetic Information Nondiscrimination Act (GINA), which was signed into law in 2008. Its purpose is to protect Americans against improper use of genetic and genomic information in insurance and employment decisions. The other answers are incorrect because they do not exist.

Question 14

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?

Accepted Answer

Nurses assess the patients capacity and ability to give voluntary consent. This includes assessment of factors that may interfere with informed consent, such as hearing loss, language differences, cognitive impairment, and the effects of medication. The nurses best action is to inform the geneticist that the couple cannot give informed consent until a translator is available. The other answers are incorrect because just having the couple sign the form or explaining it in English and then having them sign the form does not allow you to know that the husband understands what he is signing. The wife should not translate for her husband because it is not possible to know if she is translating the document correctly.

Question 15

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?

Accepted Answer

Nurses obtain patient consent to obtain medical records that may be needed. Nurses explain that the medical information is needed to ensure that appropriate information and counseling (including risk interpretation) are provided. The other answers are incorrect because old medical records are not obtained just in case. Alluding to due diligence is ambiguous.

Question 16

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?

Accepted Answer

HIPAA prohibits the use of genetics information to establish insurance eligibility. However, HIPAA does not prohibit group plans from increasing premiums, excluding coverage for a specific condition, or imposing a lifetime cap on benefits. Insurers cannot mandate enrollment in Medicaid or adherence to a health promotion plan.

Question 17

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?

Accepted Answer

Sickle cell anemia follows an autosomal recessive pattern of inheritance. When carriers have children together, there is a $25 \%$ chance that each child may inherit the gene mutation from both parents and have the condition. Lifestyle factors do not directly influence mendelian patterns of inheritance. The man and woman do not have a risk of developing sickle cell disease later in life.

Question 18

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?

Accepted Answer

The husbands statement suggests that the wife is anxious or fearful of obtaining bad news. This does not necessarily suggest powerlessness, low self-esteem, or impaired health maintenance, however.

Question 19

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?

Accepted Answer

Consanguinity is a major risk factor for autosomal recessive diseases. It is less significant in regard to risks for multifactorial, autosomal dominant, or X-linked diseases.

Quiz 8: Overview of Genetics and Genomics in Nursing