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Biology Exam 2 > Genetic Testing > Flashcards

Genetic Testing Flashcards

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1
Q

examples of using predictive or precision medicine

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

WARFARINDOSING.com

A

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

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3
Q

BRCA 1 and BRCA 2 are ___ ____ genes.

A

tumor supressors

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4
Q

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

A

breast cancer by age 70

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5
Q

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

A

diagnostic test
presence/absence of colon cancer cells

by assessing for inactivation of tumor suppressor genes

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6
Q

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

A

germline DNA
predictive test

ID risk factors that might contribute to breast cancer

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7
Q

BRCA 1/2 and Cologuard tests both target ?

A

inactivation/mutation of tumor suppressor genes

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8
Q

the costs of genome sequencing

A

rapidly decreasing

making it a valuable tool for evaluating genetic risk

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9
Q

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

A

pharmacogenomics

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10
Q

genome testing

A

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

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11
Q

genetic testing also tests for

A
  1. analyze RNA to determine gene expression
  2. biochemical tests for:
    presence of gene products and
    microscopic analysis of chromosomes for structural variations
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12
Q

personal genomics

A

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

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13
Q

predictive medicine

A

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

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14
Q

precision medicine

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

2. uses informatics to prevent/treat disease

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15
Q

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

A

people w/ transcription factor binding site variants

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

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16
Q

what does erosion of conserved binding promoter sites research suggest?

A

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

17
Q

diagnostic genetic testing

A
  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
18
Q

predictive genetic testing

A
  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)
19
Q

examples of predictive genetic testing

A

breast cancer and colon cancer tests

20
Q

screening genetic testing

A

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

21
Q

examples of screening genetic testing

A

newborn screening

prenatal screening

22
Q

pharmacogenomics

A
  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
23
Q

testing difference between predictive and diagnostic tests

A

pred - whole genome sequence of germline DNA

diag - tumor cell analysis

24
Q

diagnostic testing of tumor cells

A
  1. examines genetic markers in cells
  2. to determine which genetic alterations are driving tumor growth
  3. id which therapy will be best
25
Q

what are important factors in developing and validating genetic tests?

A
  1. error rate
  2. validity
  3. clinical utility
  4. personal utility
26
Q

clinical utility

A
  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?
27
Q

personal utility

A
  1. how will this information effect life?
  2. will this info make you paranoid or relaxed?
  3. are you better off knowing or not?
28
Q

where do genetic tests come from?

A
  1. research
  2. research published in peer reviewed journals
  3. FDA approved for public testing
29
Q

Promethease

A
  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
30
Q

SNPedia

A
  1. website
  2. shares info of what a genetic mutation can result in
  3. based on literature
31
Q

pharmacogenomics

A

detection for genes that affect the metabolism of a specific drug

32
Q

pharmacogenomic example from class

A

warfarin metabolism

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

33
Q

high warfarin metabolism

A

the normal dosage of this drug will not work for you

34
Q

low warfarin metabolism

A

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

35
Q

Color

A
  1. germline testing for all BRCA gene variations

2. not tumor testing

36
Q

Cologuard

A
  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
37
Q

ethical considerations

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

Biology Exam 2 (9 decks)

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