Lewis Chapter 12 Genetics and Genomics

When a father has Huntington's disease with a heterozygous genotype, the nurse uses the Punnett square to illustrate the inheritance patterns and the probability of transmission of the autosomal dominant disease. The mother does not carry the Huntington's disease gene. What % chance that offspring will be unaffected? What % chance of offspring will be affected?

50% will be unaffected 50% will be affected

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

B 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.

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

D Feedback: 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.

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

D 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.

Which of the following statements accurately describes genetic testing Select all that applies a. Results of genetic testing may raise psychologic and emotional issues b. An ethical issue that is raised with genetic testing is protection of privacy to prevent discrimination c. Genetic testing of the mother can be used to determine an unborn child's risk of having genetic conditions d. An example of genetic testing that is required by all states is premarital testing of women for the hemophilia gene e. Genetic testing for BRCA1 and BRCA2 mutations can identify women who may choose to have a mastectomy to prevent breast cancer

a...b...e

A 20 yr old patient has a family history of colon cancer. Genetic testing shows he has the gene for familial adenomatous polyposis (FAP). What should the nurse teach the patient to do? a. Change his diet b. Have annual colonoscopies c. Consider a referral for gene therapy d. Not have children so that they will not be affected

b. Have annual colonoscopies

What accurately describes gene therapy? a. May activate a mutated gene that is functioning improperly b. Is a risky technique under study for genetic disease with no cure c. Is frequently done by replacing a healthy gene with a mutated gene d. Introduces a new gene into the reproductive cells to help fight a genetic disease

b. Is a risky technique under study for genetic disease with no cure

Physical traits expressed by an individual is the definition for which term? a. Allele b. Genomics c. Phenotype d. Chromosomes

c. Phenotype

Tay-Sachs disease is an autosomal recessive disease. Both parents have been identified as heterozygous. There is a _______% chance that their offspring will be affected

25% affected

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

A Feedback: 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.

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.

A Feedback: 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.

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

A Feedback: 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.

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

A Feedback: 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.

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

A Feedback: 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.

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

A Feedback: 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.

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.

A Feedback: 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.

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%

A Feedback: 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%.

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

Ans: B Feedback: 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 organdamage 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 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.

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

B Feedback: 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.

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

B Feedback: 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.

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 X chromosome and infertility.

B Feedback: 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.

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

B Feedback: 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.

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

B Feedback: 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.

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

B Feedback: 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.

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.

B Feedback: Huntington disease is an autosomal dominant disorder. Autosomal dominant inherited conditions affectfemale 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.

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

B Feedback: 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.

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

B Feedback: 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.

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

B Feedback: 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.

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

C Feedback: A woman who has the BRCA1 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.

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

C Feedback: 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.

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

C Feedback: 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.

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

C Feedback: 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.

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.

C Feedback: 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.

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

C Feedback: 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.

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 X-linked inheritance and all males inherit an 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.

C Feedback: 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 X chromosome.

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.

C Feedback: 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.

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

C Feedback: 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.

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.

D Feedback: 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.

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? A. It is an autosomal dominant disorder. B. It is passed by mitochondrial inheritance. C. It is an X-linked inherited disorder. D. It is an autosomal recessive disorder.

D Feedback: Cystic fibrosis is autosomal recessive. Nurses also consider other issues when assessing the risk for genetic conditions in couples and families. For example, when obtaining a preconception or prenatal family history, the nurse asks if the prospective parents have common ancestors. This is important to know because people who are related have more genes in common than those who are unrelated, thus increasing their chance for having children with autosomal recessive inherited condition such as cystic fibrosis. Mitochondrial inheritance occurs with defects in energy conversion and affects the nervous system, kidney, muscle, and liver. X-linked inheritance, which has been inherited from a mutant allele of the mother, affects males. Autosomal dominant is an X-linked dominant genetic disease.

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

D Feedback: 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.

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

D Feedback: 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.

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.

D Feedback: 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.

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

D Feedback: 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.

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

D Feedback: 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.

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

D Feedback: 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.

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

D, E Feedback: 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.

A couple lost a second baby to miscarriage. They are both considering having genetic testing done before trying to get pregnant again. What should the nurse include when teaching about genetic testing? a. A particular genetic test will tell them if there is a specific genetic change b. The test results will identify the diseases their children will inherit from them c. Genetic testing will determine if they are predisposed to developing a genetic disease d. Genetic testing kits that are available on the internet are just as good and less costly than going to a genetic counselor

a. A particular genetic test will tell them if there is a specific genetic change

The new parents of an infant born with Down syndrome ask the nurse what happened to cause the chromosomal abnormality. What is the best response by the nurse? a. During cell division of the reproductive cells there is an error causing an abnormal number of chromosomes b. A mutation in one of the chromosomes created an autosomal recessive gene that is expressed as Down syndrome c. An abnormal gene on one of the two chromosomes was transferred to the fetus, causing an abnormal chromosome d. A process of translocation caused the exchange of genetic material between the two chromosomes in the cell resulting in abnormal chromosomes

a. During cell division of the reproductive cells there is an error causing an abnormal number of chromosomes

Which definition is the best description of the term genotype? a. Genetic identity of an individual b. Transmission of a disease from parent to child c. Basic unit of heredity; arranged on chromosome d. Family tree containing genetic characteristics and disorders of that family

a. Genetic identity of an individual

The health care provider plans to prescribe trastuzumab (Herceptin) for a patient with breast cancer. What testing will the HCP order before prescribing this medicine? a. HER2 gene mutation b. BRCA2 gene mutation c. BRCA1 gene mutation d. Stage II cancer identification

a. HER2 gene mutation

The health care provider is having difficulty finding the appropriate dose for the patient taking warfarin (Coumadin). what can the nurse suggest that may solve this problem? a. Pharmacogenomic testing b. Start bivalirudin (Angiomax) IV c. Change from warfarin to clopidogrel (Plavix) and aspirin d. Change from warfarin to enoxaparin (Lovenox) injections

a. Pharmacogenomic testing

The daughter of a man with Huntington's disease is having presymptomatic genetic testing done. What does a positive result mean for her? a. She will get the disease b. She is a carrier of Huntington's disease c. She will be at increased risk for developing the disease d. She should change her diet, exercise, and environment to prevent the disease

a. She will get the disease

The National Marrow Donor Program obtains hematopoietic stem cells from donors for recipients in need. When discussing this donation with the donor, what should the nurse know about these stem cells? a. They must come from an embryo or umbilical cord b. These cells will form new blood cells for the recipient c. Taking these cells will cause the donor to become anemic d. These cells must be removed with a bone marrow aspiration

b. These cells will form new blood cells for the recipient

A 26 year old man was adopted. What health information related to his biologic parents and family will be most useful to him when he gets married? Select all that applies a. Cholecystitis occurring in family members b. Occurrence of prostate cancer is one uncle c. Ages of family members diagnosed with diseases d. Kidney stones present in extended family members e. Age and cause of death of deceased family members

c.....e....

A 21 yr old patient says no one in his family has type 1 diabetes mellitus, but he has had it since childhood. He asks how his diabetes was transmitted to him. The nurse should explain to him that this disease is a. a single gene disorder b. a chromosome disorder c. an acquired genetic disorder d. multifactorial genetic disorder

d. multifactorial genetic disorder