Lecture 23 - Molecular Genetic Testing for Disease Flashcards
What are the different uses of genetic testing?
Slide 4
- diagnostic
- predictive
- screening
- pharmacogenetics
- tumor analysis
What is the difference between diagnostic and predictive genetic testing?
(Slide 4)
Diagnostic:
- identifies whether a certain genetic disease is present
- answer is a definitive yes/no
Predictive:
- identifies risk factors for particular diseases
- gives a probability and not a definitive answer
What is personal genomics?
-sequencing and analysis of an individuals genome for use in their medical decision making
What did evaluation of the erosion of binding sites reveal about individuals?
-the genes associated with the eroded binding sites were related to the individuals medical histories
What are important in factors in evaluating the validity of genetic tests?
(Slide 11)
- how sensitive is the test
- how specific is the test
- how reliable is the test (false positive/negative)
- how effective is the test in planning patient treatment (clinical utility)
- how valuable is the test in personal and family decision making (personal utility)
Where do new genetic tests come from?
- peer reviewed evaluation of the effectiveness of the test
- goes through the NIH for approval for clinical use
How does pharmacogenetics affect medical decision making?
-can be used to help make medication and dosing decisions for medication based on metabolism of that specific medication
Which of the following statements is/are true regarding the Cologuard test and the BRCA 1/2 test?
A. Cologuard is a diagnostic test designed to detect the presence or absence of colon cancer cells.
B. BRCA1/2 testing done on germline DNA is a predictive test predictive test designed to identify risk factors that might contribute to breast cancer.
C. Both tests target tumor suppressor genes.
D. All of the above
D. All of the above
