Training activity information
Details
Identify two cases that require molecular diagnostic follow up work and recommend appropriate assays
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
- Cases which require molecular diagnosis, such as family studies needed, targeted treatment, prognosis.
- Limitations of molecular diagnostic assays
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 understanding of the clinical presentations and initial laboratory findings indicative of potential genetic immunodeficiencies is needed before this activity? What knowledge of available molecular diagnostic assays relevant to immunodeficiency is required? What criteria will you use to determine when molecular diagnostic follow-up is necessary?
- What do you anticipate learning about the clinical scenarios and laboratory findings that suggest a need for molecular diagnostics in immunodeficiency? What is your current understanding of the available molecular assays and their relevance to different immunodeficiencies? What challenges might you face in selecting appropriate molecular assays, and how will you address them?
- How will you prepare for identifying these cases and recommending appropriate assays? Will you review case studies, discuss with senior colleagues about the indications for molecular testing, and familiarise yourself with the range of available molecular diagnostic tests? What are your initial thoughts on the complexities of selecting these follow-up tests?
In action
- As you review the case histories and initial investigation results, what key indicators are prompting you to consider molecular diagnostics?
- What specific molecular assays are you considering for each case, and what is your rationale for these choices as you are making them?
- Are there any ambiguities in the case information that are influencing your decision-making process? How are you navigating these uncertainties in the moment?
On action
- Briefly describe the two cases you identified. What were the key clinical and/or initial laboratory findings that suggested the need for molecular diagnostics? What specific molecular assays did you recommend for each case? What were your reasons for these recommendations? What resources or information did you consult to determine the appropriate assays?
- What did you learn about the indications for molecular diagnostic follow-up in cases of suspected immunodeficiency? How did this activity enhance your understanding of the available molecular assays relevant to immunodeficiency? Were there any challenges in identifying suitable cases or determining the most appropriate assays? What did you learn from these challenges?
- What aspects of identifying cases for molecular diagnostics or selecting appropriate assays do you want to explore further? How will you incorporate this learning into your future consideration of patient cases? What resources or support might you need to further develop your knowledge in this area?
Beyond action
- Have you encountered cases since this activity where molecular diagnostics were indicated?
- How did your experience in identifying these initial cases inform your thinking in those situations?
- Have your recommendations for appropriate assays evolved as your knowledge of molecular techniques has grown?
- How will your ability to identify cases for molecular follow-up contribute to providing more comprehensive diagnostic information in your future practice?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Select and perform a range of assays for the investigation of primary and secondary immunodeficiency, including a range of flow cytometry assays. |
| # 2 |
Outcome
Interpret and report on laboratory investigations that enumerate components of this immune system and its function in light of clinical details and other laboratory tests. |