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Pharmacogenomics > Exam 1 > Flashcards

Exam 1 Flashcards

1
Q

Clopidogrel gene of interest

A

CYP2C19

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2
Q

Warfarin gene of interest

A

CYP2C9, VKORC1

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3
Q

Statins gene of interest

A

SLCO1B1

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4
Q

Phenytoin gene of interest

A

CYP2C9, HLA-B

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5
Q

TCA/SSRI gene of interest

A

CYP2C19, CYP2D6

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6
Q

Thiopurines gene of interest

A

TPMT

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7
Q

Tacrolimus gene of interest

A

CYP3A5

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8
Q

Atazanavir gene of interest

A

UGT1A1

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9
Q

Pharmacogenomics definition

A

The study of whole genomic effects on drug response

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10
Q

Pharmacogenetics definition

A

The study of individual gene-drug interactions

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11
Q

How many nucleotide bases are in the Human Genome

A

3 billion

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12
Q

How many nucleotide bases are in the average gene

A

3000

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13
Q

Estimated total number of genes

A

20-30 thousand

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14
Q

Reasons for a pharmacogenetic treatment

A

Improve efficacy, reduce toxicity, predict non-responders, and minimize the burden on the healthcare system

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15
Q

Precision medicine definition

A

Tailored disease prevention and treatment taking into account differences in an individual’s genes, environment, and lifestyle

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16
Q

Precision Therapeutics definition

A

Customizing medications to patients, categorized by molecular and cellular biomarkers in order to improve treatment outcomes

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17
Q

Amount of variation between individuals’ genetic makeup

A

0.1-0.5%

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18
Q

When did Mendel publish his work on inherited factors (genes)

A

1866

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19
Q

When was DNA identified by Friedrich Miescher

A

1869

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20
Q

When did Watson & Crick identify the structure of DNA

A

1953

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21
Q

When did Vogel introduce the term pharmacogenomics

A

1959

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22
Q

When did Marshal Nirenberg crack the genetic code for protein synthesis

A

1961

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23
Q

When was DNA sequencing invented

A

1975

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24
Q

When was PCR invented

A

1983

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25
Q

When was the Human Genome launched

A

1999

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26
Q

When was the Human Genome completed

A

2003

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27
Q

When was next generation sequencing developed

A

2007

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28
Q

When was Clinical Pharmacogenetics Implementation Consortium established

A

2009

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29
Q

When was personalized healthcare initiative announced

A

2015

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30
Q

Pharmacokinetics definition

A

What the body does to the drug (defines the exposure to a drug)

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31
Q

Pharmacodynamics definition

A

What the drug does to the body (defines drug effect)

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32
Q

Intrinsic variables

A

Pregnancy, race, organ function, lactation, sex, disease, age, genetics

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33
Q

Extrinsic variables

A

Drug-drug interaction, environment, diet, EtOH, Medical practice, smoking

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34
Q

What is drug response determined by

A

Genetics, disease, environment, lifestyle, concomitant drugs

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35
Q

What does genetic variation lead to

A

Changes in drug ADME

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36
Q

Enzyme variation results in

A

Activation or deactivation

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37
Q

Transporter variation results in

A

Absorption, distribution, or elimination rates

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38
Q

Receptor variation results in

A

Drug effect (pharmacodynamics)

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39
Q

Amount of prescription drugs in the US affected by actionable pharmacogenes

A

18%

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40
Q

Amount of FDA-approved medications affected by actionable pharmacogenes

A

7%

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41
Q

Possible outcomes of drug therapy

A

Effective with minimal toxicity, effective with toxicity, failure with minimal toxicity, failure with excessive toxicity

42
Q

Textbook model: Genome

A

The book

43
Q

Textbook model: Chromosome

A

The chapter

44
Q

Textbook model: Gene

A

The sentence

45
Q

Textbook model: Nucleotide

A

The letters

46
Q

Chromosome definition

A

Cellular structures containing genes

47
Q

Gene definition

A

A segment of DNA that contains information for making a protein or RNA molecule

48
Q

Phenotype definition

A

The outward characteristic of an individual - the measurable trait

49
Q

Synonymous SNP

A

No change in AA previously termed “silent” can alter mRNA stability. Does not change the AA.

50
Q

Non-synonymous SNP

A

A nucleotide mutation that alters the AA sequence of a protein

51
Q

Missense SNP

A

A change in one DNA base pair that results in the substitution of one AA for another in the protein made from a gene

52
Q

Nonsense SNP

A

Insertion of a stop codon truncated incomplete, and usually, nonfunctional protein product –> inactive

53
Q

CYP2B6*4A - CYP2

A

Family gene name

54
Q

CYP2B6*4A - CYP2B

A

Subfamily gene name

55
Q

CYP2B6*4A - CYP2B6

A

Enzyme gene name

56
Q

CYP2B6*4A - 4

A

Allele

57
Q

CYP2B6*4A - A

A

Suballele

58
Q

Drug metabolizing enzymes normal/extensive metabolizer phenotype

A

Combination of normal function and decreased function alleles (fully functional enzyme)

59
Q

Drug metabolizing enzymes intermediate metabolizer phenotype

A

Combination of normal function decreased function, and/or no function alleles (decreased enzyme activity)

60
Q

Drug metabolizing enzymes poor metabolizer phenotype

A

Combination of decreased function and/or no function alleles (decreased or no enzyme activity)

61
Q

Drug metabolizing enzymes rapid metabolizer phenotype

A

Combination of normal function and increased function alleles (increased enzyme activity)

62
Q

Drug metabolizing enzymes ultra-rapid metabolizer phenotype

A

Combination of increased function alleles (increased enzyme activity)

63
Q

What offers genotype-based guidance for drug dosing

A

Clinical pharmacogenetics implementation consortium (CPIC)

64
Q

What offers PGx knowledge base (literature, annotation guidance)

A

PharmGKB

65
Q

What offers nomenclature resource

A

PharmVar - Pharmacogene variation concortium

66
Q

What offers PGx clinical annotation tool

A

PharmCat

67
Q

Goal of CPIC

A

Address the barrier to clinical implementation of PGx tests by creating, curating, and posting freely available, peer-reviewed, evidence-based, updateable, and detailed gene/drug clinical practice guidelines

68
Q

CPIC grading system - gene/drug pair Rx actionability

A

A - D

69
Q

CPIC grading system - Guideline Rx recommendation

A

Strong, moderate, optional, none

70
Q

Diplotype definition

A

Results of a PGx that includes one maternal and one paternal allele

71
Q

Prodrug slow metabolizer

A

Poor efficacy

72
Q

Prodrug rapid metabolizer

A

Good efficacy, rapid effect

73
Q

Active drug slow metabolizer

A

Good efficacy, accumulation of drug

74
Q

Active drug rapid metabolizer

A

Poor efficacy

75
Q

CPIC key assumption

A

Genotyping will become more widespread where all patients will get PGx tested

76
Q

Anticoag for CYP2C19: 1/17, 17*/17, 1/1

A

Clopidogrel standard dose

77
Q

Anticoag for CYP2C19: 1/2, 1/3, 2/17, 2/2, 2/3, 3/3

A

Alternative (prasugrel, ticegrelor)

78
Q

`Anticoag for CYP2C19 UM/RM, NM

A

Clopidogrel standard dose

79
Q

Anticoag for CYP2C19 IM, PM

A

Alternative (prasugrel, ticegrelor)

80
Q

Pharmacist’s responsibilities in PGx

A

Educate patient about PGx principles
Advocate for rational and routine use of PGx testing

81
Q

Elements of a basic understanding of PGx should enable pharmacists to

A

Recommend PGx testing to aid in drug and dose selection
Design a patient-specific medication regimen based on a patients profile
Educate patients and other healthcare providers on the principles of PGx and indications for testing
Communicate PGx-specific medication recommendations to the healthcare team

82
Q

PGx online database: PharmGKB detail

A

Robust: Rx information, drug label, variant, and clinical annotations. Provides links to guidelines

83
Q

Clinical Practice Guidelines detail

A

Published annually, worldwide acceptance. Do not advise on who to test, aid in “what to do” with the results of PGx

84
Q

FDA recourse details

A

Limited: dated material, lack of clinical utility, interpretation by clinician necessary

85
Q

Sanger sequencing

A

Chain termination method. Needs the whole sequence - PCR with radioactive dideoxynucleotides, then gell electrophoresis to separate PCR, then decode the sequence of interest

86
Q

Sanger sequencing benefits

A

Conformation of variants
Detects rare or novel SNPs

87
Q

Sanger sequencing limitations

A

Low throughput
Not targeted

88
Q

Next generation sequencing

A

The standard in clinical dx and research
Pyrosequencing, ion semiconductor sequencing (pH based), and dye sequencing (by ligation) - SOLiD

89
Q

Next generation sequencing benefits

A

High throughput
Detects rare or novel SNPs
Able to be targeted

90
Q

Next generation sequencing limitations

A

Higher cost
More sophisticated
Informatics needed

91
Q

Allelic discrimination and detection method

A

Mostly PCR-based
Discrimination: primer extension, hybridization, ligation, enzymatic cleavage
Detection: Mass spectrometry, fluorescence, chemiluminescence

92
Q

qPCR benefits

A

Low cost
High throughput

93
Q

qPCR limitation

A

Small # of SNPs/genes
Small # of samples
Known varients only

94
Q

Microarray/chip benefits

A

Low cost
High throughput
Many SNPs/genes

95
Q

Microarray/chip limitations

A

Known variants only
Small # of samples

96
Q

What certification is required for clinical labs

A

Clinical Laboratory Improvement Amendments

97
Q

Which PGx method would be best to identify a patient’s CYP2C19 status to guide clopidogrel tx

A

Quantitative PCR

98
Q

GINA

A

Genetic Information Nondisclosure Act

99
Q

GINA definition

A

Title I: protects individuals against genetic discrimination with respect to health insurance
Title II: Protects individuals against employment discrimination on the basis of genetic information
- employers are prohibited from requesting, requiring, or purchasing genetic information about applicants or employees
- employers prohibited from using genetic information for pay, promotion or job assignments

100
Q

What does whole exome sequencing not identify

A

Regulatory and intronic variants

Pharmacogenomics (1 decks)

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