genetics and genomics

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 testing abnormalities are found. Based on the nurse's knowledge of the Genetic Information nondiscimination 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 nondiscrimation protection also extends to life insurance.

a. GINA should protect her from this happening

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. pheylketonuria d. congenital hypothyroidism

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 disorders d. the patient's relative are not at risk for the specific tested disease

a. the patient is not at high risk for the tested disease

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 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. a patient with a family history of sickle cell

A 45 year old woman asks the nurse, " if my sister has the mutated BRCA 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. family members are at high risk of developing breast cancer

Which patient is most likely to have a multifactorial genetic disorder? a. 20 year old woman with cystic fibrosis b. 50 year old man with sickle cell c. 40 year old man with CAD d. 30 year old woman with polycystic kidney disease

c. 40 year old man with CAD

A 22 year old man who smokes 2 packs 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. this is no point in being screened for heart disease if you already have a strong family history of the disease

c. heart disease usually results from a combination of factors, including behaviors that can be changed

Two sons of a father who has Huntington's disease cannot agree on whether or not to be tested because of 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 test for making future life decisions

c. if there is a positive result, the patient will be diagnosed with the disease

A 5 year old girl was diagnosed with type 1 diabetes. The mother says that no one else on 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 acquired genetic mutation, meaning she developed it, but her children will not have it

c. it is a multifactorial genetic disorder caused by one or more genes and environmental factors

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. it is autosomal recessive so both copies of the gene are abnormal

The woman with ovarian cancer would like to know which kind of genetic testing could help prevent her daughter 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. predictive testing

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. test for the abnormal anaplastic lymphoma kinase (ALK) 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 mother? a. nearly all affected people are males b. daughters of affected males will be carrier. c. the daughter has a 50% chance of being affected d. if the mother is a carrier, the patient could have hemophilia.

d. if the mother is a carrier, the patient could have hemophilia.

A nurse is taking a health history from a healthy 30year 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. same disease present in more than one close relative

The couple is adopting a baby girl. What health information related to the baby's biological 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. the family has familial adenomatous polyposis (FAP)