The power of pharmacogenomics (PGx) is only realized when genetic data is effectively integrated into clinical practice. This is the role of clinical informatics: using technology like Electronic Health Records and Clinical Decision Support to deliver actionable PGx insights to providers at the point of care. For PharmD students, understanding this intersection is crucial for implementing personalized medicine. This quiz tests your knowledge of the databases, systems, and challenges involved in making PGx a clinical reality.
1. Which of the following best describes the role of clinical informatics in pharmacogenomics (PGx)?
- Performing the genetic sequencing of a patient’s DNA in a laboratory.
- Using information technology to store, retrieve, and use PGx data to support clinical care.
- Marketing new genetic tests directly to consumers.
- Developing new immunosuppressant medications.
Answer: Using information technology to store, retrieve, and use PGx data to support clinical care.
2. A key informatics challenge in implementing PGx is ensuring that genetic test results are available in a(n) __________ format within the Electronic Health Record (EHR).
- Scanned PDF document
- Unstructured, free-text note
- Structured and discrete data field.
- Encrypted file that clinicians cannot open
Answer: Structured and discrete data field.
3. What is the primary function of a Clinical Decision Support (CDS) system for pharmacogenomics?
- To order the genetic test from the lab.
- To provide general information about genetics to patients.
- To deliver patient-specific, actionable PGx guidance to a clinician at the time of prescribing.
- To store a patient’s complete genomic sequence.
Answer: To deliver patient-specific, actionable PGx guidance to a clinician at the time of prescribing.
4. A physician attempts to prescribe clopidogrel for a patient with a known CYP2C19 poor metabolizer genotype, and an alert appears on the screen recommending an alternative agent. This is an example of:
- A medication error.
- A prospective, post-test PGx clinical decision support alert.
- A retrospective data analysis.
- A basic drug-drug interaction check.
Answer: A prospective, post-test PGx clinical decision support alert.
5. Which organization provides peer-reviewed, evidence-based, and freely available guidelines that are essential for building the rules within a PGx CDS system?
- The American Medical Association (AMA)
- The Food and Drug Administration (FDA)
- The Clinical Pharmacogenetics Implementation Consortium (CPIC).
- The National Institutes of Health (NIH)
Answer: The Clinical Pharmacogenetics Implementation Consortium (CPIC).
6. The Pharmacogenomics Knowledgebase (PharmGKB) is a crucial informatics resource that:
- Sells genetic testing kits directly to patients.
- Curates and disseminates knowledge about the impact of human genetic variation on drug response.
- Houses all patient EHR data for the United States.
- Is a social media platform for pharmacists.
Answer: Curates and disseminates knowledge about the impact of human genetic variation on drug response.
7. “Alert fatigue” is a significant barrier to the effectiveness of CDS. In the context of PGx, this means:
- Clinicians become desensitized and start ignoring frequent, non-critical PGx alerts.
- Patients get tired of being alerted about their genetic risks.
- The CDS system slows down due to too many alerts.
- The genetic testing lab is tired of running samples.
Answer: Clinicians become desensitized and start ignoring frequent, non-critical PGx alerts.
8. For a PGx CDS system to function effectively, it must be integrated into the:
- Pharmacy’s billing software.
- Laboratory’s reporting system.
- Clinician’s routine workflow, such as the e-prescribing module of the EHR.
- Hospital’s patient education website.
Answer: Clinician’s routine workflow, such as the e-prescribing module of the EHR.
9. The use of standardized “star allele” (*allele) nomenclature for genes like CYP2D6 is an example of:
- A proprietary naming system.
- A data standard that is critical for interoperability and consistent interpretation in informatics systems.
- A way to rank the importance of different genes.
- A system for naming new drugs.
Answer: A data standard that is critical for interoperability and consistent interpretation in informatics systems.
10. What is a major challenge related to data quality for PGx clinical decision support?
- Genetic data is always perfect and requires no quality checks.
- The risk of outdated or misinterpreted genetic information being used to fire an incorrect alert.
- There is not enough genetic data available.
- The data is too simple to be useful.
Answer: The risk of outdated or misinterpreted genetic information being used to fire an incorrect alert.
11. A “pre-test” CDS alert would typically fire when:
- A lab result is ready for review.
- A clinician orders a drug for which a PGx test is recommended but has not been performed.
- A patient reports an adverse drug reaction.
- A drug is being dispensed from the pharmacy.
Answer: A clinician orders a drug for which a PGx test is recommended but has not been performed.
12. The ability of different information systems (e.g., a lab system and an EHR) to communicate and exchange data effectively is known as:
- Interoperability.
- Data security.
- User interface design.
- Clinical workflow.
Answer: Interoperability.
13. A significant informatics barrier to implementing pre-emptive PGx testing programs is:
- The cost and logistics of storing and managing large amounts of genetic data over a patient’s lifetime.
- The lack of any known actionable drug-gene pairs.
- The refusal of patients to participate.
- The speed of modern computers.
Answer: The cost and logistics of storing and managing large amounts of genetic data over a patient’s lifetime.
14. What is the pharmacist’s role as an “information master” in the context of PGx informatics?
- To write the code for the clinical decision support system.
- To educate patients and other providers on how to interpret PGx results and use informatics tools like CPIC guidelines.
- To repair the EHR system when it crashes.
- To design the user interface for the laboratory information system.
Answer: To educate patients and other providers on how to interpret PGx results and use informatics tools like CPIC guidelines.
15. A patient’s genetic information is protected health information (PHI) under which U.S. federal law?
- The Clinical Laboratory Improvement Amendments (CLIA)
- The Food, Drug, and Cosmetic Act (FD&C Act)
- The Health Insurance Portability and Accountability Act (HIPAA).
- The Controlled Substances Act (CSA)
Answer: The Health Insurance Portability and Accountability Act (HIPAA).
16. Why is it important for the EHR to be able to store a patient’s predicted PGx phenotype (e.g., “CYP2D6 Poor Metabolizer”) in addition to the genotype?
- The genotype is not clinically relevant.
- The phenotype is the clinically actionable interpretation needed for decision support.
- It is required by all state laws.
- The phenotype is easier to spell.
Answer: The phenotype is the clinically actionable interpretation needed for decision support.
17. “OMICS” technologies like genomics and proteomics contribute to a “data-rich, information-poor” problem in healthcare. This means:
- A vast amount of data is generated, but it is difficult to translate it into clinically useful information without proper informatics tools.
- There is not enough data being generated.
- The data generated is of poor quality.
- The information derived from the data is always simple to understand.
Answer: A vast amount of data is generated, but it is difficult to translate it into clinically useful information without proper informatics tools.
18. The process of translating a CPIC guideline into a set of programmable rules for an EHR’s CDS engine is a key task in:
- Laboratory medicine.
- Clinical informatics.
- Medicinal chemistry.
- Pharmaceutical marketing.
Answer: Clinical informatics.
19. A major benefit of integrating PGx data directly into the EHR is that:
- It ensures the data will never be seen by the patient.
- It allows for automated, real-time clinical decision support at the point of care.
- It eliminates the need for pharmacists.
- It makes the EHR system run more slowly.
Answer: It allows for automated, real-time clinical decision support at the point of care.
20. The use of an Electronic Health Record (EHR) in a skills lab course helps student pharmacists to:
- Learn how to use the specific software they will see in every pharmacy.
- Practice collecting patient data and documenting recommendations in a simulated clinical environment.
- Develop skills in computer programming.
- Understand the history of paper charting.
Answer: Practice collecting patient data and documenting recommendations in a simulated clinical environment.
21. A pharmacist uses a database tool to look up the dosing recommendation for a patient on warfarin with a specific CYP2C9 and VKORC1 genotype. This is an application of:
- Clinical informatics to support personalized medicine.
- Biostatistical analysis.
- Pathophysiology.
- Health policy.
Answer: Clinical informatics to support personalized medicine.
22. Which of the following is a significant ethical consideration in PGx informatics?
- Ensuring equitable access to testing and preventing the data from widening health disparities.
- The color scheme of the EHR interface.
- The brand of computer used by the clinician.
- The speed of the hospital’s internet connection.
Answer: Ensuring equitable access to testing and preventing the data from widening health disparities.
23. The FDA Table of Pharmacogenomic Biomarkers in Drug Labeling is an important informatics resource because it:
- Provides a list of drugs for which PGx information is included in the FDA-approved label.
- Contains the full text of all CPIC guidelines.
- Is a database of every patient’s genetic test results in the U.S.
- Ranks drugs based on their efficacy.
Answer: Provides a list of drugs for which PGx information is included in the FDA-approved label.
24. A key data element needed for a CDS rule to adjust a drug dose for a patient with renal dysfunction is:
- The patient’s most recent serum creatinine or eGFR.
- The patient’s blood type.
- The patient’s home address.
- The patient’s preferred pharmacy.
Answer: The patient’s most recent serum creatinine or eGFR.
25. A well-designed PGx alert should not only state the problem but also:
- Suggest a therapeutic alternative or action based on clinical guidelines.
- Provide a link to a news article.
- Require the prescriber to call the lab for confirmation.
- Automatically change the prescription without prescriber input.
Answer: Suggest a therapeutic alternative or action based on clinical guidelines.
26. The Genetic Information Nondiscrimination Act (GINA) is a crucial piece of legislation related to the informatics of PGx because it:
- Mandates that all Americans must undergo genetic testing.
- Protects patients from misuse of their genetic data by health insurers and employers.
- Specifies the exact format for storing genetic data in an EHR.
- Created the CPIC guidelines.
Answer: Protects patients from misuse of their genetic data by health insurers and employers.
27. What is the role of standardized terminologies (like LOINC and SNOMED CT) in clinical informatics?
- They are brand names for EHR systems.
- They provide a common language for medical concepts, enabling data sharing and interoperability.
- They are used to calculate drug dosages.
- They are types of statistical tests.
Answer: They provide a common language for medical concepts, enabling data sharing and interoperability.
28. A “passive” CDS alert might:
- Stop a prescriber from placing an order.
- Display information on the screen for the clinician’s consideration without interrupting the workflow.
- Send a text message to the patient.
- Require a phone call to the pharmacist.
Answer: Display information on the screen for the clinician’s consideration without interrupting the workflow.
29. An “interruptive” CDS alert:
- Is generally preferred by all clinicians because it is helpful.
- Halts the workflow to force the clinician to acknowledge or address a potential issue.
- Is only used for informational purposes.
- Is sent to the patient’s email address.
Answer: Halts the workflow to force the clinician to acknowledge or address a potential issue.
30. The “five rights” of clinical decision support state that CDS should deliver the right information, to the right person, in the right format, through the right channel, at the:
- End of the month.
- Beginning of the fiscal year.
- Right point in the workflow.
- Patient’s home.
Answer: Right point in the workflow.
31. In the context of PGx, a major challenge with family history data in the EHR is that it is often:
- Stored as structured data.
- Completely accurate and up-to-date.
- Incomplete or stored as unstructured free text, making it difficult to use for automated decision support.
- Not relevant to genetic risk.
Answer: Incomplete or stored as unstructured free text, making it difficult to use for automated decision support.
32. A pharmacist uses an online database to determine that a patient’s new herbal supplement is a strong inhibitor of an enzyme that metabolizes their warfarin. This is an application of:
- Drug information skills and informatics to prevent an adverse event.
- Pharmacogenomics.
- Pathophysiology.
- Sterile compounding.
Answer: Drug information skills and informatics to prevent an adverse event.
33. The process of taking raw genetic data (like a VCF file) from a lab and translating it into a clinical interpretation (like a diplotype and phenotype) is a key step in:
- The bioinformatics pipeline.
- The drug dispensing process.
- The medication reconciliation process.
- The patient counseling process.
Answer: The bioinformatics pipeline.
34. A major reason that PGx implementation has been slow is the:
- Lack of any evidence that genes affect drug response.
- Difficulty of integrating complex genetic information into existing EHR systems and clinical workflows.
- Pharmacists’ refusal to learn about genetics.
- High accuracy of all direct-to-consumer genetic tests.
Answer: Difficulty of integrating complex genetic information into existing EHR systems and clinical workflows.
35. A dashboard that displays key metrics about a clinic’s PGx testing program (e.g., number of tests ordered, number of alerts fired) is a tool of:
- Health analytics and informatics.
- Patient counseling.
- Drug procurement.
- Medicinal chemistry.
Answer: Health analytics and informatics.
36. The CPIC guideline for statins and SLCO1B1 provides what kind of information for a patient with a decreased-function variant?
- A recommendation to avoid all statins.
- A recommendation for a lower starting dose or consideration of an alternative statin.
- A recommendation to double the standard dose.
- A guarantee that the patient will not experience myopathy.
Answer: A recommendation for a lower starting dose or consideration of an alternative statin.
37. When a CDS system provides a PGx recommendation, it should ideally also provide:
- A link to the supporting evidence or guideline.
- The cost of the recommended medication.
- The phone number of the lab that performed the test.
- A list of all patients with a similar genotype.
Answer: A link to the supporting evidence or guideline.
38. The use of informatics to identify a population of patients with a specific genotype who may be eligible for a new targeted therapy is an example of using EHR data for:
- Clinical trial recruitment.
- Billing and claims processing.
- Patient scheduling.
- Inventory management.
Answer: Clinical trial recruitment.
39. A “knowledge base” in the context of clinical informatics is:
- The brain of a pharmacist.
- A centralized repository of clinical knowledge, such as drug-drug interactions or PGx rules, that a CDS system can use.
- A type of medical textbook.
- A patient’s personal health record.
Answer: A centralized repository of clinical knowledge, such as drug-drug interactions or PGx rules, that a CDS system can use.
40. What is a key informatics component needed to support pre-emptive PGx programs?
- A secure and scalable system to store genetic data for future use.
- A requirement that all patients get tested.
- A way to bill for tests that have not yet been used.
- A large supply of paper charts.
Answer: A secure and scalable system to store genetic data for future use.
41. The pharmacist’s role in PGx informatics extends beyond interpretation to include:
- Advocating for the development and implementation of useful CDS tools.
- Serving on P&T committees to evaluate the evidence for new PGx tests.
- Educating the healthcare team on the use of new informatics resources.
- All of the above.
Answer: All of the above.
42. Which of the following represents a data privacy risk in PGx informatics?
- Storing de-identified genetic data in a secure research database.
- An unauthorized breach of an EHR system containing identifiable genetic information.
- Discussing a patient’s PGx result with their physician as part of their care.
- Using a password to log in to the EHR.
Answer: An unauthorized breach of an EHR system containing identifiable genetic information.
43. The “information master” domain for a pharmacist requires proficiency in using:
- A typewriter.
- Evidence-based information and informatics tools to advance patient care.
- Social media for personal use.
- A calculator only.
Answer: Evidence-based information and informatics tools to advance patient care.
44. How does the use of structured data for PGx results improve data quality in a CDS system?
- It ensures the information is always correct.
- It allows a computer to process and apply rules to the data automatically, reducing errors from manual interpretation.
- It makes the EHR more difficult to use.
- It prevents any clinician from seeing the data.
Answer: It allows a computer to process and apply rules to the data automatically, reducing errors from manual interpretation.
45. A primary benefit of using EHR Go in the pharmacy curriculum is that it allows students to:
- Become certified EHR technicians.
- Practice navigating an electronic health record and applying clinical knowledge in a simulated setting.
- Learn how to write computer code.
- Memorize all possible drug interactions.
Answer: Practice navigating an electronic health record and applying clinical knowledge in a simulated setting.
46. A major goal of clinical informatics is to turn raw data into:
- More data.
- Actionable knowledge.
- Complex reports that are difficult to understand.
- A list of patient names.
Answer: Actionable knowledge.
47. The effective use of informatics to implement PGx can help prevent:
- All diseases.
- Predictable, genotype-based adverse drug reactions.
- The need for pharmacists.
- All medication errors.
Answer: Predictable, genotype-based adverse drug reactions.
48. Why is “alert fatigue” a particular concern for PGx CDS compared to drug-drug interaction alerts?
- PGx alerts are always less important.
- PGx results are static for a patient, and an alert may fire every time the same drug is ordered over many years, leading to high override rates.
- Drug-drug interaction alerts are never overridden.
- PGx alerts are not based on evidence.
Answer: PGx results are static for a patient, and an alert may fire every time the same drug is ordered over many years, leading to high override rates.
49. A pharmacist working on an informatics team to build a PGx CDS rule is contributing to which aspect of population health?
- Minimizing adverse drug events at a system level.
- Counseling an individual patient.
- Dispensing a single prescription.
- Compounding a sterile preparation.
Answer: Minimizing adverse drug events at a system level.
50. The future of personalized medicine relies heavily on the successful partnership between:
- Pharmacists and technicians.
- Patients and insurance companies.
- Genetic science and clinical informatics.
- Drug manufacturers and marketing agencies.
Answer: Genetic science and clinical informatics.
I am a Registered Pharmacist under the Pharmacy Act, 1948, and the founder of PharmacyFreak.com. I hold a Bachelor of Pharmacy degree from Rungta College of Pharmaceutical Science and Research. With a strong academic foundation and practical knowledge, I am committed to providing accurate, easy-to-understand content to support pharmacy students and professionals. My aim is to make complex pharmaceutical concepts accessible and useful for real-world application.
Mail- Sachin@pharmacyfreak.com