Ch 13

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

A patient with a family history of sickle cell disease 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.

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? The grandmother had breast cancer. The family has a history of Alzheimer's disease. The family has an individual with Down syndrome. The family has familial adenomatous polyposis (FAP).

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? Nearly all affected people are male. Daughters of affected males will be carriers. The daughter has a 50% chance of being affected. If the mother is a carrier, the patient could have hemophilia.

If the mother is a carrier, the patient could have hemophilia. 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.

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? "If one brother has the disease, the other brother will as well." "A positive genetic mutation increases your risk of the disease." "If there is a positive result, the patient will be diagnosed with the disease." "You could use a direct-to-consumer genetic test for making future life decisions."

If there is a positive result, the patient will be diagnosed with the disease 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 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? It is a congenital disorder that she was born with. It is a single gene disorder, meaning only one gene mutation caused the disease. It is a multifactorial genetic disorder caused by one or more genes and environmental factors. It was an acquired genetic mutation, meaning she developed it, but her children will not have it.

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

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? It is X-linked so it was passed to the child from the mother. It is a chromosome disorder that usually skips a generation. It is autosomal recessive so both copies of the gene are abnormal. Correct It is autosomal dominant so the abnormal gene allele is expressed instead of the normal allele.

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

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? Give chemotherapy first. Test for hypersensitivity to this drug. Test for the abnormal anaplastic lymphoma kinase (ALK) gene. Correct Test for gene abnormalities that will affect the appropriate dose.

test for the abnormal anaplastic lymphoma kinase (ALK) gene 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.