PHRM 6203 Review Questions

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Questions and Answers

For which of the following scenarios would whole exome sequencing be LEAST appropriate?

  • Identifying variants of a drug transporter gene with SNPs in an exon region.
  • Identifying variants of a drug receptor gene with SNPs in the coding region.
  • Identifying variants of a drug-metabolizing gene with SNPs in the coding region.
  • Identifying variants of a drug transporter gene with SNPs in the noncoding region. (correct)

A gene test considers the following variants: *2, *3, *4, *8. An individual who has a *1/*9 diplotype is tested using the gene test. Which of the following would the individual's diplotype be reported as?

  • *1/*1
  • *2/*3
  • *1/*4
  • *1/*9 (correct)

Which of the following U.S. government agencies oversees clinical laboratories concerning accuracy and reliability of testing results?

  • CMS (correct)
  • DEA
  • FDA
  • CDC

Which technique is most commonly used as the basis for pharmacogenomics genotyping procedures?

<p>Polymerase chain reaction (A)</p> Signup and view all the answers

An individual taking multiple medications metabolized by many different enzymes under genetic control is a candidate for pharmacogenomic testing. Which testing approach makes the most sense in this scenario?

<p>A comprehensive panel test (A), Whole genome sequencing (B)</p> Signup and view all the answers

When considering potential stigmatization related to genetic test results, which of the following groups would LEAST likely be of immediate concern regarding access to this information?

<p>Physicians (B), Employers (C)</p> Signup and view all the answers

Which of the following privacy and potential discrimination issues is NOT covered (prohibited) by GINA?

<p>Employers using a person's genetic information as a part of their wellness profile. (A)</p> Signup and view all the answers

Which of the following domains is LEAST likely to be encompassed by the legal aspect of ELSI (Ethical, Legal, and Social Implications)?

<p>Sample ownership (A), Genetic discrimination (B), Intellectual property (C), Data ownership (D)</p> Signup and view all the answers

Which of the following factors are most likely to influence the ready availability of genetic tests, impacting pharmacogenomic implementation?

<p>Equipment and Assay sensitivity and specificity (B)</p> Signup and view all the answers

What are the four components of the ACCE framework, funded by the CDC, used to guide the pharmacoeconomic evaluation of genetic testing?

<p>Analytic validity, clinical validity, clinical utility, and ELSI (A)</p> Signup and view all the answers

Which of the following would NOT be considered a primary motivation from a patient's perspective when considering genetic testing?

<p>Prenatal implantation genetic diagnosis (B)</p> Signup and view all the answers

Which viewpoint is a proponent of Direct to Consumer Genetic Testing most likely to favor?

<p>It increases health awareness and access to tests. (C), It ensures patient privacy and freedom of choice (D)</p> Signup and view all the answers

Which public agency is responsible for overseeing the regulation of false and misleading advertising related to genetic testing?

<p>Federal Trade Commission (A)</p> Signup and view all the answers

For Genomic and Genetic Testing, which of the following does NOT typically fall under conditions for regulation?

<p>Clinical Lab Preference (D)</p> Signup and view all the answers

Genetic Testing Reports for Germline variants as provided by Direct to consumer Testing Labs make use of what testing modality?

<p>Multi-gene panels (D)</p> Signup and view all the answers

What does a higher therapeutic index indicate regarding drug safety?

<p>Greater separation between effective and toxic doses (A)</p> Signup and view all the answers

If a drug is considered a prodrug, what must occur before it can exert its pharmacological effects?

<p>Metabolic activation. (A)</p> Signup and view all the answers

If a patient is a poor metabolizer of CYP2C19, how might this affect the standard dose of clopidogrel?

<p>The standard dose may not be effective. (D)</p> Signup and view all the answers

A drug is primarily eliminated through hepatic metabolism. Which factor is MOST likely to significantly affect its elimination rate?

<p>Genetic polymorphisms in metabolizing enzymes. (D)</p> Signup and view all the answers

Which of the following BEST describes a 'loss-of-function' genetic variant in a drug-metabolizing enzyme?

<p>It reduces or eliminates the enzyme's ability to metabolize the drug. (C)</p> Signup and view all the answers

The ready availability of genetic testing particularly for point of care (POC) testing is one barrier to pharmacogenomic implementation. Which of the factors listed below ARE likely to influence the ready availability of genetic tests?

<p>Inadequate turnaround time (TAT) for results (A), Equipment and Assay sensitivity and specificity (B), Inadequate training of laboratory staff (C)</p> Signup and view all the answers

Flashcards

Whole exome sequencing

Sequencing all the protein-coding regions in the genome, best for identifying variants in coding regions, not non-coding regions.

Comprehensive panel test

Multiple medications metabolized by different enzymes.

GINA exception

The Genetic Information Nondiscrimination Act prevents genetic information misuse. However, it does allow employers using genetic information as a part of a wellness profile.

ACCE Framework

Accuracy, Clinical validity, Clinical Utility, Ethical, Legal and Social Implications.

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Turnaround Time (TAT)

TAT is a factor influencing the ready availability of genetics tests.

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Direct to Consumer Testing

Increases awareness, access, ensures privacy and freedom of choice.

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Federal Trade Commission

A public agency which oversees the regulation of false advertising about genetic testing.

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Genetic Testing Reports

Germline variants are identified though multiple gene panels.

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Genomic and Genetic Testing

Clinical Lab Preference.

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Basis for pharmacogenomics analysis

Polymerase chain reaction

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Clinical Laboratories

The Centers for Medicare and Medicaid Services.

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Study Notes

  • PHRM 6203 Review Questions were presented by Otito Iwuchukwu.
  • The current run was last updated on April 10, 2025, at 3:11 pm.
  • There were 15 activities, 82 participants, and an average of 29 responses leading to an average engagement of 37%.

Whole Exome Sequencing

  • Whole exome sequencing is not appropriate for identifying variants of a drug transporter gene with SNPs in the noncoding region.

Gene Test Variants

  • A gene test that considers the variants *2, *3, *4, *8 where an individual with a *1/*9 diplotype is likely to be reported as *1/*9.

US Government Agencies

  • The Centers for Medicare and Medicaid Services (CMS) oversees clinical laboratories concerning the accuracy and reliability of testing results

Genotype Procedures

  • Polymerase Chain Reaction is the basis for many of the genotype procedures available for pharmacogenomics analysis

Pharmacogenomic Testing

  • A comprehensive panel test is most appropriate for an individual taking multiple medications metabolized by many different enzymes under genetic control who is to undergo pharmacogenomic testing.

Genetic Test Results

  • When considering stigmatization, physicians would not be of immediate concern regarding genetic test results.

GINA Coverage

  • GINA covers (prohibits) all privacy and potential discrimination issues EXCEPT employers using a person's genetic information as part of their wellness profile.
  • The legal aspect of ELSI encompasses sample ownership, genetic discrimination, and intellectual property.

Genetic Testing

  • The ready availability of genetic testing, particularly for point of care (POC) testing, is one barrier to pharmacogenomic implementation with inadequate turnaround time (TAT) for results plus Equipment and Assay sensitivity and specificity influencing the ready availability of genetic tests.

ACCE Framework

  • The 4 components of the ACCE framework funded by the CDC to guide pharmacoeconomic evaluation of genetic testing are: analytic validity, clinical validity, clinical utility, and ELSI.

Patient's Perspective for Conducting Genetic Testing

  • Prenatal implantation genetic diagnosis is not considered a patient's perspective for conducting genetic testing.

Direct-to-Consumer Genetic Testing

  • A proponent of Direct to Consumer Genetic Testing is likely to favor it increases health awareness and access to tests plus ensures patient privacy and freedom of choice.

Regulations of Advertising for Genetic Testing

  • The Federal Trade Commission is the public agency overseeing the regulation of any false and misleading advertising for genetic testing.

Conditions for Regulation Except

  • For Genomic and Genetic Testing, all of the following would fall under conditions for regulation EXCEPT Clinical Lab Preference.

Germline Variants Testing Modality

  • Genetic Testing Reports for Germline variants as provided by Direct to consumer Testing Labs make use of Single gene sequence and Multi-gene panels testing modality.

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