Training activity information

Details

Interpret results for one of the following pharmacogenetic tests:

  • Thiopurine methyltransferase (TPMT) activity and metabolites
  • Cholinesterase variants

Type

Developmental training activity (DTA)

Evidence requirements

Evidence the activity has been undertaken by the trainee​.

Reflection on the activity at one or more time points after the event including learning from the activity and/or areas of the trainees practice for development.

An action plan to implement learning and/or to address skills or knowledge gaps identified.

Considerations

  • Method selection, including pre-analytical issues, assay advantages and limitations, quality parameters, and interferences
  • Clinical utility of genetic tests
  • Equipment calibration and maintenance
  • Quality control; EQA and IQC
  • National and international guidelines
  • Role of the duty biochemist

Reflective practice guidance

The guidance below is provided to support reflection at different time points, providing you with questions to aid you to reflect for this training activity. They are provided for guidance and should not be considered as a mandatory checklist. Trainees should not be expected to provide answers to each of the guidance questions listed.

Before action

  • What is the clinical significance of TPMT activity and metabolites testing or Cholinesterase variant testing? How does interpreting these results contribute to patient management?
  • What are the fundamental principles of pharmacogenomics relevant to the chosen test (TPMT or Cholinesterase)?
  • What are the analytical methods used to determine TPMT activity and metabolites or to identify Cholinesterase variants?
  • What are the different possible results for the chosen pharmacogenetic test (e.g., different TPMT phenotypes or Cholinesterase variants)? What is the clinical interpretation of each result in terms of drug metabolism or enzyme activity?
  • What information about the patient (e.g., medication history, clinical presentation) is important to consider when interpreting these results?
  • Are there any guidelines or protocols for interpreting and reporting these pharmacogenetic test results within your laboratory?
  • What challenges do you anticipate in understanding the genetic basis or the clinical implications of the results?
  • Review relevant educational materials on the pharmacogenetics of TPMT or Cholinesterase, including their clinical significance and the interpretation of test results.
  • Familiarise yourself with any laboratory protocols or guidelines related to the interpretation and reporting of the chosen test.
  • Consider potential difficulties in understanding the genetic nomenclature or the clinical implications and think about how you might address them.

In action

  • How do you interpret the result? What reference range are you using?
  • What decisions are you making as you analyse the result? For example, how are you determining the patient’s likely phenotype or genotype based on the data? How are you considering the clinical context (if available)?
  • What aspects of the interpretation feel intuitive based on your current knowledge of pharmacogenetics, and which parts require more conscious effort and reference to guidelines or knowledge resources?
  • How effectively are you able to understand the different possible outcomes of the pharmacogenetic test (e.g., normal, deficient, variant)?
  • What challenges are you encountering while interpreting the results? Are there any ambiguous or unexpected results? Are you finding it easy to access and understand the relevant reference information?
  • If you encounter an unusual or unexpected result, are there alternative interpretations you are considering or are you seeking further information to understand the discrepancy?
  • Are you interpreting the results in a way that would be clear and informative for a clinical colleague who might be using this information to guide patient management?

On action

  • Describe the specific pharmacogenetic test results you interpreted (TPMT or Cholinesterase). What were the key values or findings presented in the report? What information from the patient request or clinical history was available and how did it relate to the interpretation? Were there any reference ranges or interpretive comments provided with the results? What were they? Did you notice any complexities or ambiguities in the results?
  • What did you learn about the clinical significance of the specific pharmacogenetic test you interpreted? How did this activity enhance your understanding of how genetic variations can influence drug metabolism or enzyme activity? What did you learn about the importance of correlating pharmacogenetic results with clinical context and phenotype? Were there any challenges in interpreting the results? What did you learn from these challenges?
  • What key elements will you focus on when interpreting future pharmacogenetic test results? How will you ensure you consider the clinical context when interpreting these results? Are there any aspects of pharmacogenetics or the specific tests you reviewed that you need to explore further? What resources or guidelines will you refer to for interpreting complex pharmacogenetic results?

Beyond action

  • Now that you have encountered more clinical cases or further learning about pharmacogenetics, do you have a broader understanding of the clinical significance of TPMT activity and metabolites or Cholinesterase variants?
  • Have you compared your initial interpretation of a pharmacogenetic test result with how such results are used in clinical decision-making that you have since observed or learned about?
  • Consider if you have encountered different methodologies for pharmacogenetic testing since this training activity. How does your initial experience with interpreting one type of test relate to others?
  • Has your initial experience interpreting a pharmacogenetic test result enhanced your awareness of the importance of considering individual patient factors in drug therapy? Has this training activity influenced how you approach discussions or learning about other genetic or biochemical markers relevant to drug metabolism or response? Can you recall instances where your understanding of pharmacogenetic principles gained from this training activity has helped you to understand the rationale behind specific drug dosage adjustments or alternative therapies?
  • If pharmacogenetic testing becomes more integrated into routine clinical practice, how will your foundational experience in interpreting these results prepare you for this evolution? Could the analytical and interpretative skills you developed in this training activity be applied to understanding other complex laboratory results that require consideration of individual patient variability?

Relevant learning outcomes

# Outcome
# 1 Outcome

Analyse drugs, vitamins and trace elements in various biological matrices via quantitative and qualitative assays using automated and manual methodologies.

# 5 Outcome

Demonstrate the application of pharmacokinetics and pharmacogenomics in therapeutic drug monitoring.