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?

Accepted Answer

During meiosis, a pair of chromosomes may fail to separate completely, creating a sperm or oocyte that contains either two copies or no copy of a particular chromosome. This sporadic event, called nondisjunction, can lead to trisomy. Down syndrome is an example of trisomy. The mother does not have a mutation of chromosome 21, which is indicated in the question. Also, trisomy does not produce a single X chromosome and infertility. Genes are packaged and arranged in a linear order within chromosomes, which are located in the cell nucleus. In humans, 46 chromosomes occur in pairs in all body cells except oocytes and sperm, which contain only 23 chromosomes.

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?

Accepted Answer

Sickle cell anemia is an example of a genetic condition caused by a small gene mutation that affects protein structure, producing hemoglobin S. A person who inherits two copies of the hemoglobin S gene mutation has sickle cell anemia and experiences the symptoms of severe anemia and thrombotic organ
damage resulting in hypoxia. Amyotrophic lateral sclerosis is a neurodegenerative disease that can occur as a result of an inherited mutation, but not a mutation of hemoglobin $\mathrm{S}$. The patient with sickle cell anemia may experience edema, but it would not be related to the gene mutation. A glioblastoma is a neurologic tumor.

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?

Accepted Answer

Spontaneous mutations take place in individual oocytes or sperm at the time of conception. These mutations are not inherited in other family members. However, a person who carries the new spontaneous mutation may pass on the mutation to his or her children. Achondroplasia, Marfan syndrome, and neurofibromatosis type 1 are examples of genetic conditions that may occur in a single family member as a result of spontaneous mutation. Germline mutations are passed on to all daughter cells when body cells replicate. During meiosis, a pair of chromosomes may fail to separate completely, creating a sperm or oocyte that contains two copies or no copy of a particular chromosome. This sporadic event, called nondisjunction, can lead to either trisomy or a monosomy.

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?

Accepted Answer

Huntington disease is an autosomal dominant disorder. Autosomal dominant inherited conditions affect
female and male family members equally and follow a vertical pattern of inheritance in families. A person who has an autosomal dominant inherited condition carries a gene mutation for that condition on one chromosome pair. Each of that persons offspring has a $50 \%$ chance of inheriting the gene mutation for the condition and a $50 \%$ chance of inheriting the normal version of the gene.

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?

Accepted Answer

Retinoblastoma is an autosomal dominant inheritance that has incomplete penetrance, and the gene appears to skip a generation, thus leading to errors in interpreting family history and in genetic counseling. Autosomal recessive conditions have a pattern that is more horizontal than vertical; relatives of a single generation tend to have the condition. Genetic conditions inherited in an autosomal recessive pattern are frequently seen among particular ethnic groups and usually occur more often in children of parents who are related by blood, such as first cousins. X-linked conditions may be inherited in recessive or dominant patterns. In both, the gene mutation is located on the $\mathrm{X}$ chromosome.

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?

Accepted Answer

Many birth defects and common health conditions, such as heart disease, high blood pressure, cancer, osteoarthritis, and diabetes, occur as a result of interactions of multiple gene mutations and environmental influences. Thus, they are called multifactorial or complex conditions. The other answers are incorrect because X-linked conditions, autosomal recessive conditions, and autosomal dominant conditions are not caused by the interactions of multiple gene mutations and environmental influences.

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?

Accepted Answer

At the present time, the nurse should inform the woman about chromosome studies. Chromosome studies may be needed at any age, depending on the indication. Two common indications are a suspected diagnosis, such as Down syndrome, and a history of two or more unexplained pregnancy losses, which the woman has described. The other answers are incorrect because instructing the woman to continue to try to get pregnant is redundant. The woman has already said she is trying to get pregnant. She should have an amniocentesis with the next pregnancy, but this is not as imperative as the chromosome studies. Telling the patient she will not experience another loss would be a belittling response. It is her choice to have the chromosome studies, but it is important that the nurse explain all the risks surrounding pregnancy and pregnancy loss based on the patients history.

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?

Accepted Answer

The first aim of genetic testing is to improve management, that is, identify people with treatable genetic conditions that could prove dangerous to their health if left untreated. The other answers are incorrect because genetic testing does not determine the rate of infectious disease. The nurse should not discourage refusal without describing the rationale.

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?

Accepted Answer

Nurses must be alert for family histories indicating that multiple generations (autosomal dominant inheritance) or multiple siblings (autosomal recessive inheritance) are affected with the same condition or that onset of disease is earlier than expected (multiple generations with early onset). When a family history of disease is identified, the nurse must be responsible for making the patient aware that this family history is a risk factor for disease. Huntington disease is noted with mental deterioration, but the patient presents with jerky movements of the head and limbs. Cerebrovascular accident can occur in a woman her age, but there is no evidence of signs or symptoms of this condition in the patient scenario. Schizophrenia is highly unlikely.

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?

Accepted Answer

The advantage of a health fair is that it will provide information on all age-related diseases and the prevention of disease. It would be impossible for the nurse to refer all employees over the age of 50 to a gastroenterologist. Creating a Web site may not meet workers needs. Placing brochures in the nurses facility will provide information to a group of people, but will not have the net affect that a health fair can in educating people on genetic and lifestyle-related diseases.

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?

Accepted Answer

A well-documented family history is a tool used by the health care team to make a diagnosis, identify teaching strategies, and establish a pattern of inheritance. The family history should include at least three generations, as well as information about the current and past health status of all family members, including the age of onset of any illnesses and cause of death and age at death. Information on current medications and immunizations are important factors to be gathered in the health history, but are not part of the genetic history. It is not sufficient to just identify illnesses in the patients children.

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?

Accepted Answer

Physical assessment may provide clues that a particular genetic condition is present in a person and family. Family history assessment may offer initial guidance regarding the particular area for physical assessment. For example, a family history of neurofibromatosis type 1, an inherited condition involving tumors of the central nervous system, would prompt the nurse to carry out a detailed assessment of closely related family members. Skin findings, such as caf-au-lait spots, axillary freckling, or tumors of the skin (neurofibromas), would warrant referral for further evaluation, including genetic evaluation and counseling. A family history of familial hypercholesterolemia would alert the nurse to assess family members for symptoms of hyperlipidemias (xanthomas, corneal arcus, abdominal pain of unexplained origin). As another example, increased urination could indicate type 1 diabetes. Projectile vomiting is indicative of pyloric stensosis.

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?

Accepted Answer

The nurse must honor the patients wishes while explaining to the patient the potential benefit this information may have to other family members. Involving the geneticist in the patients care is very important, but notifying family members or physicians would be a breach of confidentiality. A nurse may want to disclose genetics information to family members who could experience significant harm if they do not know such information. However, the patient may have other views and may wish to keep this information from the family, resulting in an ethical dilemma for patient and nurse.

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?

Accepted Answer

When two carrier parents have children together, they have a $25 \%$ chance of having a child who inherits the gene mutation from each parent and who will have the condition. The other answers are incorrect because these parents chance of having a child with six toes are not $50 \%, 75 \%$, or $100 \%$.

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?

Accepted Answer

Women who are 35 years of age or older have an increasing chance of giving birth to infants with chromosomal differences, including an extra or missing chromosome. For this reason, genetic counseling and prenatal testing are recommended for all pregnant women above this age.

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?

Accepted Answer

The provision of genetic counseling, evaluation, and testing for the disease is essential in care. Coping enhancement is essential throughout the entire genetic counseling, evaluation, and testing process. The other answers are incorrect because assisting the patient in determining the signs of neuromuscular weakness is only one aspect of care. The risk to the mans own children would be addressed in genetic counseling, evaluation, and testing. Treatment options are not directly relevant at this time.

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?

Accepted Answer

Following the communication of the findings of genetic testing, it is important that patients receive thoughtful and thorough support. A treatment regimen may or may not result from the findings, and secondary illness prevention is irrelevant. Gene therapy may or may not be undertaken.

Question 18

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

Accepted Answer

Assessing ancestry and ethnicity is important to help identify individuals and groups who could benefit from genetic testing for carrier identification, such as African Americans routinely offered testing for sickle cell anemia. The other answers are incorrect because they are not identified with African American ethnicity.

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?

Accepted Answer

The nurses role in genetic counseling is to provide information, collect relevant data, offer support, and coordinate resources. Most patients do not need to know each of the different patterns of inheritance. The other listed actions are inappropriate.

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?

Accepted Answer

To meet the challenges of personalized medicine, nurses must understand the new technologies and treatments of genetic- and genomic-based health care. This may include ethics and collaboration, but it goes beyond these concepts. The nursing care in personalized medicine is not synonymous with holistic care.

Quiz 8: Overview of Genetics and Genomics in Nursing

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 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?

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 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 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?

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?

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 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?

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 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 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?

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

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 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?

Quiz 8: Overview of Genetics and Genomics in Nursing

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

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 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 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?

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?

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 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?

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 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 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?

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

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 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 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?