Molecular Genetic Testing for Disease

Question 1

What is genetic testing?

Answer 1

the analysis of DNA to identify changes In gene sequence (deletions, additions, or misspellings) or expression levels

OR

analysis of RNA to determine gene expression or biochemical tests for the presence of gene products or microscope analysis of chromosomes to identify structural gene variations

Question 2

What is diagnostic genetic testing?

Answer 2

Identities whether an individual has a certain genetic disease. This detects a specific gene alteration, but is often not able to determine disease severity or age of onset

Question 3

What is predictive genetic testing?

Answer 3

Determines whether an individual has increased risk for a particular disease. Test results indicate probability and are therefore less definitive since disease susceptibility may also be influence by other genetic and non genetic environmental factors

Question 4

What is screening genetic tests?

Answer 4

test performed on a large segment of the asymptomatic population to determine whether they are in need of more definitive testing to diagnose a genetic disease

Question 5

What is pharmacogenomics?

Answer 5

identifies variations in an individuals genetic makeup to determine whether a drug is suitable for that patient, and if so, what would be the safest and most effective dose

Question 6

What is whole genome and whole exome sequence of gremlin DNA?

Answer 6

Examines the entire genome or exome to discover genetic alterations that may be cause of disease. This test is most often used in complex diagnostic cases, but is being explored for use in asymptomatic individuals to predict future disease

Question 7

What is tumor analysis?

Answer 7

examines genetic markers in a tumor to determine which genetic alterations are driving tumor growth and which therapies would be most effective

Question 8

What is personal genomics?

Answer 8

science of sequencing and the art of analysis of the genome of an individual for health related decision making

Question 9

What is predictive medicine?

Answer 9

use of information produced by sequencing to aid in deciding what medical treatments are appropriate for a particular individual

Question 10

What is precision medicine?

Answer 10

focused on a new taxonomy of human disease based on molecular biology. Using informatics to prevent or treat disease

Question 11

Where do new genetic tests come from?

Answer 11

genetic testing registry

Question 12

What is clinical validity?

Answer 12

how consistently and accurately the tests detects or predicts the intermediate or final outcomes of interest

Question 13

What is the difference of the 2 enantiomers?

Answer 13

2 forms that have different physiological potency and are metabolized differently

Question 14

What BRCA1 and 2?

Answer 14

tumor suppressors

Question 15

BRCA1 carriers have a ______ precent chance of developing breast cancer by age 70

Answer 15

55-65

Question 16

BRCA2 carriers have a ____ percent chance of developing breast cancer by age 70

Answer 16

45

Question 17

Aberrantly methylated tumor suppressor genes are attractive tumor markers, and detection of this methylation markers in stool can do what?

Answer 17

provides a promising approach for noninvasive screening of colorectal neoplasms