Genetic Testing

Question 1

examples of using predictive or precision medicine

Answer 1

1. analytical medial genomics
2. cancer genomics
3. pharmacogenomics

Question 2

WARFARINDOSING.com

Answer 2

a website that allows you to input all your physical characteristics and your genetic variations to see how much you should take of warfarin

Question 3

BRCA 1 and BRCA 2 are ___ ____ genes.

Answer 3

tumor supressors

Question 4

BRCA 1 carriers have 55-65% chance, BRACA 2 carriers have a 45% chance of developing ______ .

Answer 4

breast cancer by age 70

Question 5

Cologuard is a _______ test to detect the …….., by assessing ….. ?

Answer 5

diagnostic test
presence/absence of colon cancer cells

by assessing for inactivation of tumor suppressor genes

Question 6

BRCA 1/2 testing done on ________ DNA, is a _____ test, designed to identify ……..?

Answer 6

germline DNA
predictive test

ID risk factors that might contribute to breast cancer

Question 7

BRCA 1/2 and Cologuard tests both target ?

Answer 7

inactivation/mutation of tumor suppressor genes

Question 8

the costs of genome sequencing

Answer 8

rapidly decreasing

making it a valuable tool for evaluating genetic risk

Question 9

_________ testing is likely to become a routine part of medical decision making in the near future.

Answer 9

pharmacogenomics

Question 10

genome testing

Answer 10

the analysis of DNA to identify changes in gene sequence or expression level

Question 11

genetic testing also tests for

Answer 11

1. analyze RNA to determine gene expression
2. biochemical tests for:
   presence of gene products and
   microscopic analysis of chromosomes for structural variations

Question 12

personal genomics

Answer 12

the science of sequencing and art of interpreting the genome of a human for health related decisions

then you can compare their genotype w/ the literature to determine likelihood of trait expression and risk of disease

Question 13

predictive medicine

Answer 13

using informatics to aid in determining what medical treatments are appropriate for the individual

Question 14

precision medicine

Answer 14

1. focused on new taxonomy of disease based on mol. bio

2. uses informatics to prevent/treat disease

Question 15

what is the relevance of erosion of conserved binding promoter sites?

Answer 15

people w/ transcription factor binding site variants

genes affected by this have functions that correlate w/ their medical histories

Question 16

what does erosion of conserved binding promoter sites research suggest?

Answer 16

that mutational load can lead to alterations in gene regulation and heritable phenotypes

Question 17

diagnostic genetic testing

Answer 17

1. ids whether you have a certain genetic disease by detecting specific gene alteration
2. cannot determine disease onset age
3. also: multiple diseases can be caused by one gene

Question 18

predictive genetic testing

Answer 18

1. determines if you have an increased risk for a certain disease
2. results only show probabilities of outcomes based upon genome: other disease factors are not included (environment)

Question 19

examples of predictive genetic testing

Answer 19

breast cancer and colon cancer tests

Question 20

screening genetic testing

Answer 20

testing on asymptomatic populations to determine if they need more definitive testing to diagnose genetic diseases

Question 21

examples of screening genetic testing

Answer 21

newborn screening

prenatal screening

Question 22

pharmacogenomics

Answer 22

1. ids variations in genetic makeup to determine whether a drug is suitable or effective for the person
2. allows you to determine what drug and dosage is safest/most effective per person

Question 23

testing difference between predictive and diagnostic tests

Answer 23

pred - whole genome sequence of germline DNA

diag - tumor cell analysis

Question 24

diagnostic testing of tumor cells

Answer 24

1. examines genetic markers in cells
2. to determine which genetic alterations are driving tumor growth
3. id which therapy will be best

Question 25

what are important factors in developing and validating genetic tests?

Answer 25

1. error rate 2. validity 3. clinical utility 4. personal utility

Question 26

clinical utility

Answer 26

1. how consistently and accurately the test detects and predicts the intermediate/final outcomes of interest 2. is the info clinically relevant/useable? 3. what do we do w/ this info clinically?

Question 27

personal utility

Answer 27

1. how will this information effect life? 2. will this info make you paranoid or relaxed? 3. are you better off knowing or not?

Question 28

where do genetic tests come from?

Answer 28

1. research 2. research published in peer reviewed journals 3. FDA approved for public testing

Question 29

Promethease

Answer 29

1. website 2. builds a personal DNA report based upon scientific literature + your genome from a separate company 3. not restricted by FDA like 23andMe

Question 30

SNPedia

Answer 30

1. website 2. shares info of what a genetic mutation can result in 3. based on literature

Question 31

pharmacogenomics

Answer 31

detection for genes that affect the metabolism of a specific drug

Question 32

pharmacogenomic example from class

Answer 32

warfarin metabolism a blood thinner/rat poison - very cheap = commonly used

Question 33

high warfarin metabolism

Answer 33

the normal dosage of this drug will not work for you

Question 34

low warfarin metabolism

Answer 34

the normal dosage of this drug could kill you/not leave your system

Question 35

Color

Answer 35

1. germline testing for all BRCA gene variations | 2. not tumor testing

Question 36

Cologuard

Answer 36

1. home colon cancer test 2. test stool sample for signs of colon cancer 3. by assessing for hypermethylation of genes in your colon cells

Question 37

ethical considerations

Answer 37

1. insurance companies 2. employers 3. understanding of probability/risk 4. keeping info confidential