FINAL EXAM PRACTICE Q Flashcards
SNP1 and SNP2 has a linkage disequilibrium (LD) R2 value of 0.9. Which of the following is likely to be true:
A.SNP1 and SNP2 are inherited independently of each other
B.SNP1 and SNP2 have a high probability to be inherited together
C.SNP1 and SNP2 have a low probability to be inherited together
D.SNP1 and SNP2 are always inherited together
B.SNP1 and SNP2 have a high probability to be inherited together
How many base pairs have been identified in the whole human genome? (2 pts)
A.~30 million
B.~300 million
C.~3 billion
D.~3 million
C.~3 billion
A missense mutation leads to ___ (2 pts)
A.gain-of-function
B.protein-truncation
C.loss-of-function
D.either gain-of-function or loss-of-function depending on the exact amino acid change
D.either gain-of-function or loss-of-function depending on the exact amino acid change
CYP2C19 is one of the principal enzymes involved in the bioactivation of the antiplatelet prodrug clopidogrel. A common loss-of-function allele, CYP2C19*2 (c.G681A; protein coding sequence), is associated with increased risk for serious adverse cardiovascular events in both heterozygous (40% of the population are G/A) and homozygous patients (15% of the population are A/A) with acute coronary syndromes (ACSs) who are receiving clopidogrel, particularly among those undergoing percutaneous coronary intervention (PCI).
The minor allele frequency of this SNP is about__ (2 pts)
A.15%
B.20%
C.35%
D.45%
C.35%
Read the following guideline and answer the following 4 questions:
CYP2C19 is one of the principal enzymes involved in the bioactivation of the antiplatelet prodrug clopidogrel. A common loss-of-function allele, CYP2C19*2 (c.G681A; protein coding sequence), is associated with increased risk for serious adverse cardiovascular events in both heterozygous (40% of the population are G/A) and homozygous patients (15% of the population are A/A) with acute coronary syndromes (ACSs) who are receiving clopidogrel, particularly among those undergoing percutaneous coronary intervention (PCI).
Patients carrying which of following genotypes of the SNP are likely to have the lowest CYP2C19 enzymatic activity? (2 pts).
A.G/G
B.G/A
C.A/A
D.All genotypes will be the same
C.A/A
Read the following guideline and answer the following 4 questions:
CYP2C19 is one of the principal enzymes involved in the bioactivation of the antiplatelet prodrug clopidogrel. A common loss-of-function allele, CYP2C19*2 (c.G681A; protein coding sequence), is associated with increased risk for serious adverse cardiovascular events in both heterozygous (~40% of the population) and homozygous patients (~15% of the population) with acute coronary syndromes (ACSs) who are receiving clopidogrel, particularly among those undergoing percutaneous coronary intervention (PCI).
Is the c.G681A SNP located in an exon?
True False
TRUE
Read the following guideline and answer the following 4 questions:
CYP2C19 is one of the principal enzymes involved in the bioactivation of the antiplatelet prodrug clopidogrel. A common loss-of-function allele, CYP2C19*2 (c.G681A; protein coding sequence), is associated with increased risk for serious adverse cardiovascular events in both heterozygous (40% of the population are G/A) and homozygous patients (15% of the population are A/A) with acute coronary syndromes (ACSs) who are receiving clopidogrel, particularly among those undergoing percutaneous coronary intervention (PCI).
In a population of 300 patients, how many people are likely to carry a G/G genotype at this SNP? (2pt)
A.45
B.135
C.165
D.90
B.135
Which statement about whole exome/genome sequencing is incorrect? (2 pts)
A.Generates a large amount data
B.Relatively low cost per SNP
C.Can detect almost all kinds of polymorphisms
D.1-3x sequencing coverage is commonly used to identify human SNPs
D.1-3x sequencing coverage is commonly used to identify human SNPs
Red blood cells can be used to obtain DNA for PGx testing (2 pts)
True False
False
One patient comes to your pharmacy to get clopidogrel and told you that his doctor ordered a genetic testing from him, which shows his CYP2C19 as *5 and *8. Using PHARMGKB, what advice you will give to the patient? (2 pts)
A.Increase the dose because this patient is an ultrarapid metabolizer
B.Reduce the dose as the patient is an intermediate metabolizer
C.Keep taking the same dose the doctor prescribed
D.Recommend the switch to alternative therapy because the patient is a poor metabolizer.
D.Recommend the switch to alternative therapy because the patient is a poor metabolizer.
A PGx test should be submitted to ___ (2 pt)
A.Any lab that is CLIA certified
B.A CLIA lab offering PGx testing
C.Any lab performing PGx research
D.Any lab offering SNP genotyping
B.A CLIA lab offering PGx testing
Which method cannot be used to test both known and unknown alleles? (2 pts)
A.DNA chip
B.Sanger sequencing
C.Next generation sequencing
D.all of them
A.DNA chip
You ordered whole exome sequencing for your patient with early onset seizures and found a mutation in SCN8A, which encodes the sodium channel Nav1.6. Functional assays show the mutation causes a gain of function phenotype to make the sodium channel Nav1.6 overactive.
Which of the following therapies is the most likely to be beneficial? (2 pts)
A.Adeno associated virus to deliver a healthy copy of SCN8A
B.mRNA vaccination to activate T cells to treat the patient
C.Antisense oligonucleotide
D.Implantation of stem cell derived neuron into the brain of the patient
C.Antisense oligonucleotide
In PGx research, p value <0.05 is commonly used to show statistical significance for a large number of SNPs identified in whole exome sequencing? (2 pts)
True False
FALSE
A patient carries homozygous nonsense mutation in an important gene responsible for a key liver function. Which type of medication is most likely to help this patient? (2 pts)
A.Small molecule drug
B.Gene therapy
C.Antisense oligonucleotides
D.Monoclonal antibody
B.Gene therapy
The prevalence of a rare allele (18) was low. Below are the statistics for the 2-year cumulative event rates of this allele: bleeding [1/*18 vs. 1/1: 2 vs. 2.3%; odds ratio (OR), 1.23; 95% confidence interval (CI), 0.16-9.45], stent thrombosis (2 vs. 1.1%; OR, 3.98; 95% CI, 2.4-6.6); composite of any death (5.4 vs. 7.1%; OR, 1.37; 95% CI, 0.32-5.73). Which of the following events is significantly associated with the 1/18 genotype? (2 pts)
A.Bleeding
B.Stent thrombosis
C.Composite of any death
D.All of above
E.None of above
B.Stent thrombosis
Repatha and Praluent are what type of drug? (2 pts)
Small molecule drug
Small interfering RNA drug
Mimetic peptide drug
Monoclonal antibody drug
Monoclonal antibody drug
To do a good experiment and generate robust data, which one is the least important? (2 pts)
Absolute value of the data
Sample size
Negative control
Positive control
Absolute value of the data
Which of the following is not needed for making mRNA-based COVID-19 vaccines that are currently in use? (2 pts)
Lipid coating
Chemically modified mRNA
Sequence information of coronavirus spike protein
Coronavirus particles
Coronavirus particles
Which statement about antibodies are not correct? (2 pts)
Antibodies can be engineered to delivery drug
Antibodies can block the function of its target protein
Antibodies are produced by T cells
Antibodies can be used to treat cancers
Antibodies are produced by T cells
Which of the following LDL-C concentration is more likely to be the test results of a patient with PCSK9 gain-of-function mutation? (2 pts)
105 mg/dL
46 mg/dL
95 mg/dL
282 mg/dL
282 mg/dL
You ordered a sequencing of CYP2C9 for your patient. The results show that there is no known mutant allele identified. However, a novel mutation (heterozygous) in CYP2C9 exon 3 was identified.
Do you think if this patient has normal CYP2C9 enzyme function? (2 pts)
I do not know
No
Yes
The test result is wrong
I do not know
Which of the following statements is true about the relationship between variants in DPYD and fluoropyrimidine efficacy and/or safety? (2 points)
Gain-of-function variants in DPYD increase fluoropyrimidine metabolism and have been associated with reduced fluoropyrimidine efficacy
Loss-of-function variants in DPYD reduce fluoropyrimidine bioactivation and have been associated with reduced fluoropyrimidine efficacy
Gain-of-function variants in DPYD increase fluoropyrimidine bioactivation and have been associated with increased fluoropyrimidine efficacy
Loss-of-function variants in DPYD reduce fluoropyrimidine metabolism and have been associated with increased adverse events in fluoropyrimidine treated patients
Loss-of-function variants in DPYD reduce fluoropyrimidine metabolism and have been associated with increased adverse events in fluoropyrimidine treated patients
Which of the following is(are) barrier(s) to the implementation of pharmacogenomic testing into clinical practice? Select ALL that apply. (2 points)
Slow transition of basic science knowledge into clinical practice
The pace of technology development cannot keep up with clinical practice changes
The US government has not put forth any significant financial efforts toward precision medicine
The traditional clinical practice model
Slow transition of basic science knowledge into clinical practice
The traditional clinical practice model
Which of the following innovative clinical trial designs have helped overcome barriers to the development and approval of drugs within precision medicine? Select all that apply. (2 points)
Double blinded, placebo controlled, randomized clinical trial
Basket trial design
Umbrella trial design
Observational cohort design
Basket trial design
Umbrella trial design
Indicate if the following sentence is true or false.
The Precision Medicine Initiative has the goal to enhance research, technology, and policies toward the development of individualized treatments. (2 points)
True False
TRUE
Indicate if the following sentence is true or false.
Precision medicine and personalized medicine can both include pharmacogenomics in the practice of medicine. (2 points)
True False
TRUE
Which of the following is (are) the most likely somatic mutation(s) that could cause cancer? Select ALL that apply.
TMPT*3A
UGT1A1 (TA)7TAA
KRAS Missense Mutation
EGFR deletions in exon 21
KRAS Missense Mutation
EGFR deletions in exon 21
The laboratory results of a patient with newly diagnosed non-small cell lung cancer have just been reported. The report indicates the following:
(1) EGFR deletions in exon 19
(2) KRAS Missense Mutation in exon 2
Which initial course of therapy would be the best recommendation in this patient? (2 points)
Cetuximab
Crizotinib
Cytotoxic agents
Ceritinib
Cytotoxic agents
This enzyme metabolizes numerous anticancer therapies, including docetaxel and many of the tyrosine kinase inhibitors:
CYP2C19
CYP3A4
CYP2B6
CY92D6
CYP3A4
Which type of genetic testing provides the most amount of pharmacogenetic information?
A whole genome sequencing run
A Sanger sequencing run
A whole exome sequencing run
A genotyping panel containing 64 variants
A whole genome sequencing run
Which of the following best describes the primary intent of the Clinical Pharmacogenetics Implementation Consortium (CPIC) guidelines? (2 points)
Recommends the utilization of genetic test results to optimize drug therapy
Provides clinicians information on cutting edge pharmacogenetics tests
Serves as a legal document for the drug manufacturer
Recommends in whom pharmacogenetic testing should be conducted
Recommends the utilization of genetic test results to optimize drug therapy
A physician who claims to specialize in treating Chronic Lyme Disease requires patients to sign a contract assuring that they will complete a full one-year course of therapy. Which ethical principle would this contract violate?
Justice
Beneficence
Autonomy
Nonmaleficence
Autonomy
The conduct of a pharmacogenomic clinical trial in a developing country in a patient population unlikely to be able to afford such tests raises concerns related to which ethical principle? (2 points)
Beneficence
Nonmaleficence
Justice
Autonomy
Justice
Which of the following are examples of genes that may impact drug pharmacokinetics? Select ALL that apply. (2 points)
CYP2C9
UGT1A1
VKORC1
TPMT
CYP2C9
UGT1A1
TPMT
Based upon the Genetic Information Nondiscrimination Act, a health insurance company can charge different premium rates to patients based upon genetic predisposition identified as a result of genetic testing. (2 points)
True False
FALSE
Which of the following represent drug target genes? Select ALL that apply. (2 points)
VKORC1
ADRB2
UGT1A1
TPMT
VKORC1
ADRB2
Which of the following genes encodes a protein responsible for Phase II drug reactions? (2 points)
UGT1A1
CYP1A2
SLCO1B1
MDR1
UGT1A1
Which of the following drug properties are most likely due to genetic variations in drug targets? (2 points)
Ethnic differences in response
Bioavailability
Entry into the central nervous system
Area under the plasma concentration time curve
Ethnic differences in response
Which one of the following sites for genetic variations may affect drug pharmacodynamics? (2 points)
Drug transporter proteins
Drug target proteins
CYP450 enzymes
Phase II metabolizing enzymes
Drug target proteins
Which of the following drug properties are most likely to be affected by single nucleotide polymorphisms in CYP2D6? (2 points)
Toxicity
Delivery
Absorption
Renal clearance
Toxicity
A key guiding principle in medical ethics is that health professionals should put the interests of the patient above their own interests or those of the institution for which they work. This principle is known as? (2 points)
Beneficence
Nonmaleficence
Autonomy
Justice
Beneficence
CRISPR/Cas9 technology can be used for the treatment of patients in both in vivo and ex vivo gene-editing therapy. (2 points)
True False
True
Which of the following statements is most likely false in regards to a patient with a TMPT3A3C genotype that is being started on mercaptopurine? (2 points)
The optimal starting dose for this patient has not been established.
This patient is at an increased risk for severe toxicity from conventional doses.
This patient’s tumor will have a positive response to mercaptopurine treatment.
This patient will not achieve therapeutically effective thioguanine concentrations.
This patient will not achieve therapeutically effective thioguanine concentrations.
Which of the following is (are) known, proposed, or a likely predictor(s) of irinotecan toxicity? Select ALL that apply (2 points)
Poor performance status
Gilbert’s Syndrome
TPMT23A genotype
Age < 50 years old
Poor performance status
Gilbert’s Syndrome
A patient with a TPMT3A3C genotype will have a decreased risk of toxicity to azathioprine treatment. (2 points)
True False
FALSE
Which of the following is a CPIC recommendation regarding clopidogrel use in a patient that is a CYP2C19*2 homozygote? (2 points)
There are no CPIC guidelines for clopidogrel usage
Use prasugrel or ticagrelor if no contraindication
Clopidogrel should be effective at the label-recommended dosage and administration
Double the label’s recommended dosage of clopidogrel
Use prasugrel or ticagrelor if no contraindication
Which of the following drugs is associated with toxicity that can be at least partially predicted by TPMT genotype (2 points)?
6-mercaptopurine
Allopurinol
Ritonavir
Aripiprazole
6-mercaptopurine
Which of the following describes in vivo gene editing approaches used in patients? Select all that apply. (2 points)
Vector carrying a gene editing tool is infused intravenously into the patient and up-taken by the target cells.
Large molecules infused intravenously to patients to suppress an oncogene that is genetically overexpressed in cancer cells.
Cells are separated and genetically modified using CRSPR/Cas9 outside the body then infused to the patient.
Small molecule are administered to patients to suppress an oncogene that is genetically overexpressed in cancer cells.
Vector carrying a gene editing tool is infused intravenously into the patient and up-taken by the target cells.
A 55-year-old Caucasian male has been taking 40 mg simvastatin for over one year with no observed reduction in LDL. You would like to adjust his therapy to enhance his LDL response, but he has been found to have a SLCO1B1 521CC genotype (5/5 allele) with no symptoms of myopathy. Which of the following is consistent with the Clinical Pharmacogenetics Implementation Consortium (CPIC) recommendations to maximize LDL reduction in this patient? (2 Points)
Increase the simvastatin dose to 80 mg and routinely monitor creatinine phosphokinase.
Maintain the simvastatin dose at 40 mg.
Reduce the simvastatin dosage to 10 mg.
Use an alternative drug to achieve LDL target reduction.
Use an alternative drug to achieve LDL target reduction.
Which of the following is the best target for chimeric antigen receptor T cells in B cell malignancies? (2 points)
CD19
CAR
Cytokines
CD3
CD19
