Exam 20: Genetic Testing and Treatment

In substrate reduction therapy,a drug taken by mouth decreases the amounts of the molecule on which a deficient enzyme acts.

Maxwell needs to take an anti-depressant drug.He enrolls in a clinical trial to detect genetic variants and gene expression profiles associated with response to various drugs.This approach to selecting a therapeutic drug is called

Newborn screening using mass spectrometry identifies certain single-gene disorders by detecting

One of the most important types of information that a patient can bring to an initial appointment with a genetic counselor is

Sheree is referred to a genetic counselor because a cystic fibrosis (CF)test done as a routine part of her prenatal care indicated that she is a carrier of the most common mutant allele.Sheree is stunned,because no one in her family has the disease.She is 26 years old.The genetic counselor would most likely

Leber congenital amaurosis type 2 has been successfully treated using gene therapy.

One of the first applications of pharmacogenetics in prescribing drugs is for

Rita has been diagnosed with HER2 breast cancer,and is prescribed Herceptin.The approach of basing a drug prescription on the results of a single-gene test is called

Using gene therapy to correct ornithine transcarbamylase deficiency (OTC)would prevent buildup of _____ in the blood.

Which of the following might a genetic counselor do as part of her job?

"Patients-in-waiting" are false positives whose newborn screening reveals disease markers,but never develop the predicted symptoms.

Reginald receives a stem cell transplant to treat a blood cancer,multiple myeloma.His treatment is an example of

A serious limitation of using a retrovirus as a vector for gene therapy is that

Tyrone has Gaucher disease.He receives recombinant glucocerebrosidase every other week in an infusion to prevent the symptoms.This treatment is an example of

A nasal spray for cystic fibrosis patients,which contains adenovirus particles carrying a normal human CFTR gene,is an example of

Unlike cholesterol checks and chest x-rays,the results of genetic tests may have repercussions to family members who share genotypes that can affect health

Performing gene therapy on somatic cells removed from the body and then returning these cells to the body is called _____ gene therapy.

The defect in Canavan disease that causes the symptoms is

Which of the following would provide the longest lasting treatment for Leber's congenital amaurosis II?

The Genetic Testing Registry of the U.S.National Institutes of Health acts as a clearinghouse to provide information on genetic tests.