Special Topic - Genetic Testing

Question 1

Genetic Testing

Answer 1

Analysis of DNA to identify changes in gene sequence or expression levels; can also refer to analysis of RNA to determine gene expression or biochemical tests for the presence of gene products (proteins) or microscopic analysis of chromosomes to identify structural variation

Question 2

Diagnostic Genetic Testing

Answer 2

Identifies whether an individual has a certain genetic disease

Question 3

Predictive Genetic Testing

Answer 3

Determines whether an individual has an increased risk for a particular disease

Question 4

Screening Genetic Tests

Answer 4

Tests 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

Pharmacogenetics

Answer 5

Identifies variations in an individual’s 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

Whole-Genome/Whole-Exome Sequencing of Germline DNA

Answer 6

Examines the entire genome or exome to discover genetic alterations that may be the cause of disease

Question 7

Diagnostic 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

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

Predictive Medicine

Answer 9

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

Question 10

Precision Medicine

Answer 10

Focused on a new taxonomy of human disease based on molecular biology; using informatics (personal information) to prevent or treat disease

Question 11

Clinical Utility

Answer 11

Refers to the value of the test for determining treatment, patient management, and family planning

Question 12

Personal Utility

Answer 12

Refers to the value of the test for personal and family choices

Question 13

Clinical Validity

Answer 13

How consistently and accurately the test detects or predicts the intermediate or final outcomes of interest; lab provided

Question 14

What is warfarin?

Answer 14

Blood thinner

Question 15

Promethease

Answer 15

Literature retrieval system that builds a personal DNA report based on the scientific literature cited in SNPedia and a file of genotype (DNA) data

Question 16

SNPedia

Answer 16

Wiki investigating human genetics; shares information about the effects of variations in DNA, citing peer reviewed scientific publications

Question 17

What are BRCA1 and BRCA2?

Answer 17

Tumor suppressor genes for breast cancer

Question 18

What is the colorguard test and what does it test for?

Answer 18

At home colon test that tests for the presence of colon cancer