Exam 2 Study Qs

A patient received a result of "negative" on a test for a specific genetic mutation. Which interpretation by the patient would the nurse reinforce as being accurate? A. The patient is not at high risk for the tested disease. B. The patient is not at high risk for any inherited disorder. C. The patient's relatives are not at risk for any inherited disorder. D. The patient's relatives are not at risk for the specific tested disease.

A Rationale If a specific genetic test reveals a strongly negative result, the patient probably will not develop that disease. However, that does not eliminate the risk of other inherited disorders. The absence of a specific genetic mutation in the person tested does not eliminate the risk of other genetic diseases.

A patient with a father with polycystic kidney disease does not want to have genetic testing done for polycystic kidney disease because she is worried that she might lose her health insurance if genetic abnormalities are found. Based on the nurse's knowledge of the Genetic Information Nondiscrimination Act (GINA), what should the nurse teach this patient? A. GINA should protect her from this happening. B. GINA does not extend to cover preexisting conditions. C. GINA will only protect her after she is diagnosed with polycystic kidney disease. D. GINA health coverage nondiscrimination protection also extends to life insurance.

A Rationale The Genetic Information Nondiscrimination Act (GINA) prohibits discrimination in health care coverage and employment based on genetic information, but does not extend to life insurance, disability insurance, or long-term care insurance.

The couple is delivering their first child. What newborn genetic screening should the nurse teach them about? (Select all that apply.) A. Pheylketonuria B. Dienoyl-CoA reductase C. Polycystic kidney disease D. Congenital hypothyroidism E. Hereditary nonpolyposis colorectal cancer syndrome

A, D Rationale Newborn genetic screening for phenylketonuria (PKU) and congenital hypothyroidism are universally required by law in the United States. Genetic screening for dienoyl-CoA reductase, a fatty acid disorder, is required in some states. Hereditary nonpolyposis colorectal cancer syndrome and polycystic kidney disease would only be tested for if there was family history and the family requested it.

For which individual is genetic carrier screening indicated? A. A patient with a history of type 1 diabetes B. A patient with a family history of sickle cell disease C. A patient whose mother and sister died of breast cancer D. A patient who has a long-standing history of iron-deficiency anemia

B Rationale Genetic carrier screening should be done in families with a history of sickle cell disease. Iron deficiency is not related to genetic status. Although there is a multifactorial genetic basis for diabetes (based on research), there are no genetic markers for testing for the presence of or risk of diabetes. A significant family history of breast cancer may suggest that presymptomatic testing for BRCA 1 and 2 may be indicated.

A 45-year-old woman asks the nurse, "If my sister has the mutated gene, what does it mean for me?" What information should the nurse consider for an accurate response to this question? A. Only an identical twin would be at risk for breast cancer. B. Family members are at high risk of developing breast cancer. C. The patient already has breast cancer but does not know it yet. D. Family members will not have any treatment options for breast cancer.

B Rationale Inheriting a mutated confers significant risk of developing breast cancer. In addition, it significantly increases family members' risk of developing the disease. Having the BRCA gene does not mean that breast cancer is already present or that a future cancer could not be treated.

Which patient is most likely to have a multifactorial genetic disorder? A. A 20-year-old woman with cystic fibrosis B. A 50-year-old man with sickle cell disease C. A 40-year-old man with coronary artery disease D. A 30-year-old woman with polycystic kidney disease

C Rationale Coronary artery disease may be caused by a combination of genetic factors and health behaviors. Cystic fibrosis, sickle cell disease, and polycystic kidney disease are examples of single gene disorders, which are relatively rare.

The parents of a child diagnosed with cystic fibrosis ask the nurse what happened to cause this disease. What is the best response by the nurse? A. It is X-linked so it was passed to the child from the mother. B. It is a chromosome disorder that usually skips a generation. C. It is autosomal recessive so both copies of the gene are abnormal. D. It is autosomal dominant so the abnormal gene allele is expressed instead of the normal allele.

C Rationale Cystic fibrosis is an autosomal recessive disorder, which means both of the genes in the pair on the chromosome are abnormal. Cystic fibrosis is not X-linked, from a chromosome disorder, or autosomal dominant.

A 22-year-old man who smokes 2 packs of cigarettes per day tells the nurse, "It does not matter what I do because every man in my family dies before age 50 of a heart attack." What information should the nurse provide? A. If there is a family history of heart disease, tobacco smoking adds nothing to the level of risk. B. Gene therapy can decrease the risk of future heart disease for the patient and his other relatives. C. Heart disease usually results from a combination of factors, including behaviors that can be changed. D. There is no point in being screened for heart disease if you already have a strong family history of the disease.

C Rationale People with a family history of disease may have the most to gain from lifestyle changes and screening tests. People cannot change their genes, but they can change unhealthy behaviors (e.g., smoking, poor eating habits) and have screening tests to detect risk factors (e.g., elevated cholesterol, hypertension) that can be treated.

The patient has late stage non-small cell lung cancer. The physician is considering using crizotinib (Xalkori) for this patient. What should be done before it is prescribed for the patient? A. Give chemotherapy first. B. Test for hypersensitivity to this drug. C. Test for the abnormal anaplastic lymphoma kinase (ALK) gene. D. Test for gene abnormalities that will affect the appropriate dose.

C Rationale Pharmacogenetics shows that an abnormal ALK gene in the patient with late-stage non-small cell lung cancers causes the cancer to develop and grow. Crizotinib (Xalkori) works by blocking certain proteins called kinases, including the protein produced by the abnormal ALK gene. This drug interacts with many other drugs, so the patient's medications should be reviewed as well.

The woman with ovarian cancer would like to know which kind of genetic testing could help prevent her daughters from getting ovarian cancer. What should the nurse tell this patient? A. Forensic testing B. Carrier screening C. Predictive testing D. Prenatal diagnostic testing

C Rationale Predictive genetic testing can be done to find mutated BRCA1 or BRCA2 genes. People who have these genetic mutations can elect to have a prophylactic oophorectomy to prevent the development of the cancer. Diagnostic testing can also identify genetic conditions. Forensic testing is done to identify an individual for legal purposes. Carrier screening identifies an unaffected individual who carries one copy of a specific gene and could pass it to next generations. Prenatal diagnostic genetic testing is done to detect changes in genes or chromosomes of a fetus before birth.

A 5-year-old girl was diagnosed with type 1 diabetes mellitus. The mother says that no one else in her family has had diabetes and asks why her daughter would get it. How should the nurse explain this complex disease? A. It is a congenital disorder that she was born with. B. It is a single gene disorder, meaning only one gene mutation caused the disease. C. It is a multifactorial genetic disorder caused by one or more genes and environmental factors. D. It was an acquired genetic mutation, meaning she developed it, but her children will not have it.

C Rationale Type 1 diabetes mellitus is a multifactorial genetic disorder related to one or more gene mutations and potentially various environmental factors that alter the way the gene(s) work. Type 1 diabetes is not a single gene disorder nor an acquired genetic mutation.

Two sons of a father who has Huntington's disease cannot agree on whether or not to be tested for Huntington's disease because of the cost. What assistance should the nurse give when discussing presymptomatic genetic testing with these men? A. "If one brother has the disease, the other brother will as well." B. "A positive genetic mutation increases your risk of the disease." C. "If there is a positive result, the patient will be diagnosed with the disease." D. "You could use a direct-to-consumer genetic test for making future life decisions."

C Rationale With the autosomal dominant Huntington's disease, if the result is positive, the patient will develop the disease manifestations and can plan accordingly for his future. There is a 50% chance for each brother to be affected. Direct-to-consumer genetic testing should not be recommended because results may be misleading, are expensive, and may not be associated with genetic counseling which would be beneficial for these brothers. There is also currently no regulation of the use of the genetic information that these companies obtain.

A father who has an X-linked recessive disorder and a wife with a normal genotype will a. pass the carrier state to his male children. b. pass the carrier state to all of his children. c. pass the carrier state to his female children. d. not pass on the genetic mutation to any of his children.

Correct answer: c Rationale: X-linked recessive disorders are caused by a mutation on the X chromosome. If a normal female (XHXH) mates with an affected male (XhY), the carrier state will be passed on to their female children (XHXh) only. Male children will be normal (XHY).

If a person is heterozygous for a given gene, it means that the person a. is a carrier for a genetic disorder. b. is affected by the genetic disorder. c. has two identical alleles for the gene. d. has two different alleles for the gene.

Correct answer: d Rationale: Heterozygous means the individual has two different alleles for one given gene.

What characterizes multifactorial genetic disorders? a. Genetic testing available for most disorders b. Commonly caused by single gene alterations c. Many family members report having the disorder d. Caused by complex interactions of genetic and environmental factors

Correct answer: d Rationale: Multifactorial genetic disorders are diseases that result from complex interactions between genetic alterations and environmental factors. Less commonly they are caused by rare single-gene mutations. Sometimes it is difficult to find the disease in a second family member.

What role does pharmacogenetics have in health care? a. It can assess individual variability to many drugs. b. It can be used to determine the effectiveness of a drug. c. It provides important assessment data for gene therapy. d. It can assess the variability of drug responses due to single genes.

Correct answer: d Rationale: Pharmacogenetics is the study of genetic variability of drug responses resulting from variation in single genes. At this time, such tests are routine for only a few diseases and disorders.

A couple who recently had a son with hemophilia A is consulting with a nurse. They want to know if their next child will have hemophilia A. The nurse can tell the parents that if their child is a a. boy, he will have hemophilia A. b. boy, he will be a carrier of hemophilia A. c. girl, she will be a carrier of hemophilia A. d. girl, there is a 50% chance she will be a carrier of hemophilia A.

Correct answer: d Rationale: The mother is a carrier of the allele for hemophilia A. The father is healthy. Each daughter has a 50% chance of being a carrier and a 50% chance of having normal alleles. Each son has a 50% chance of having hemophilia A and a 50% chance of having normal alleles.

Common causes of genetic mutations include (select all that apply) a. DNA damage from toxins. b. DNA damage from UV radiation. c. inheritance of altered genes from father. d. inheritance of altered genes from mother. e. inheritance of somatic mutations from either parent.

Correct answers: a, b, c, d Rationale: Gene mutations occur primarily in two ways: They are inherited from a parent (germline mutation) or acquired (somatic mutation) during a person's lifetime. Acquired mutations are caused by environmental factors (e.g., ultraviolet radiation, toxins) and cannot be passed on to the next generation.

If a person tests positive for a genetic mutation, it means (select all that apply) a. that the laboratory found an alteration in a gene. b. that the person is predisposed to develop a genetic disease. c. that the person will develop the disease at some point in time. d. there is the possibility that other family members may also be at risk. e. that the person should not have any children or any additional children.

Correct answers: a, d Rationale: A positive test result means that the laboratory found a change in a particular gene, chromosome, or protein that was being tested. A positive result cannot establish the absolute risk of developing a disorder. A positive result also indicates the possibility that other family members may also be at risk for the disorder.

The couple is adopting a baby girl. What health information related to the baby's biologic parents will be most useful to the parents and the baby as she grows up? A. The grandmother had breast cancer. B. The family has a history of Alzheimer's disease. C. The family has an individual with Down syndrome. D. The family has familial adenomatous polyposis (FAP).

D Rationale Because familial adenomatous polyposis occurs in those with the gene, being able to screen, monitor, and treat this baby will save her life in the long run. Breast cancer may or may not occur if the BRCA 1 or 2 are mutated. Many people who are positive for Apo E-4 do not develop Alzheimer's disease. Down syndrome results from a chromosomal alteration and not a mutated gene.

A young mother is worried that her female baby will have hemophilia because the baby's father has it. How should the nurse explain this genetic disorder to the young mother? A. Nearly all affected people are male. B. Daughters of affected males will be carriers. C. The daughter has a 50% chance of being affected. D. If the mother is a carrier, the patient could have hemophilia.

D Rationale Because hemophilia is an X-linked recessive genetic disorder, hemophilia results from a mutated gene on an X chromosome. Mothers always contribute an X chromosome to their offspring, whereas fathers contribute X to their female children and Y to their male children. If the mother is a carrier, there is a 25% chance that the daughter could have hemophilia and a 25% chance that she will be a carrier. If the mother is not a carrier, the daughter in this case will have a 50% chance of being a carrier from her father's affected X chromosome.

A nurse is taking a health history from a healthy 30-year-old man. Which information about the patient's family history increases his risk of a genetic-related disease? A. Relatives with unhealthy diet and exercise behaviors B. Disease onset at a later age than is usual in the population C. Family disease incidence similar to the general population D. Same disease present in more than one close relative

D Rationale The key features of a family history that may increase a person's risk for genetic-related diseases are disease in more than one close relative, disease that does not usually affect a certain gender (e.g., breast cancer in a male), diseases that occur at an earlier age than expected (myocardial infarction 10 to 20 years before most people have one), and certain combinations of diseases within a family (e.g., breast and ovarian cancer, heart disease, and diabetes). Relatives' later health behavior choices do not affect a person's genetic risk. Reduced incidence or later onset of disease indicates less risk.