Training activity information
Details
Within a consultation, discuss suitable investigations to assist with diagnosis where a genetic/genomic test is not available or initially indicated
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
- Usual diagnostic tests in these settings e.g. biochemical, imaging, haematological and pathology
- Interpretation of non-genomic tests within the multidisciplinary team alongside clinical history to reach a diagnosis
- Potential therapeutic advantages of a diagnosis
- Benefits and limitations of other investigative approaches
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 tests or investigations take place that might be relevant to genetic counselling practice?
- Where do these fit in the patient pathway?
- What do they add to patient care?
- How relevant are they in informing practice in Clinical Genetics?
- What strategies are effective for discussing alternative investigations with patients when genetic testing is not the primary option?
- What factors influence the decision-making process for selecting appropriate investigations in the absence of a clear genetic indication?
- What resources or information should you review beforehand regarding non-genetic investigations?
- Consider potential challenges, such as explaining complex medical investigations in lay terms.
- How will you prepare to communicate this effectively? How confident do you feel about discussing non-genetic investigations?
In action
- What specific investigations are you suggesting and how are you explaining their rationale to the patient?
- What decisions are you making about which investigations are most appropriate to discuss and in what order?
- What aspects of explaining these alternatives feel natural, and where are you having to think more carefully about your approach?
- How is the patient responding to the discussion of these alternative investigations and how are you addressing their response?
- How are you involving the patient in the decision to consider alternative investigations?
- Are your explanations clear and are they understanding the potential benefits and limitations?
- What challenges are you encountering in this discussion?
- What insights are you gaining about discussing non-genetic investigations in the context of a potential genetic condition? How does this fit with your understanding of the diagnostic pathway?
- Are there other investigations you could be considering?
- Are you tailoring your suggestions to the specific clinical context and the patient’s understanding?
- Are you considering your own professional boundaries and appropriateness of discussing these investigations in the context of your role as a Genetic Counsellor
On action
- What were the main points of the discussion regarding alternative investigations? Summarise the types of investigations discussed and the rationale behind them.
- What did you learn about discussing non-genetic investigations in the context of a potential genetic condition?
- Did you develop a better understanding of when and how to suggest these alternatives?
- Were there any unexpected patient responses or challenges in the discussion?
- How did your real-time decisions during the consultation influence the outcome of the discussion?
- How does this experience relate to understanding patient pathways in healthcare settings?
- What will you take away from this experience regarding discussing alternative diagnostic approaches?
- What areas do you need to develop further in terms of explaining the rationale and implications of different investigations?
- How can you apply this learning to future consultations?
- What support or resources might be beneficial to enhance your skills in this area? What specific actions will you take to build on this experience?
Beyond action
- Looking back at the consultation where you discussed alternative investigations, how has your approach to considering and explaining non-genetic investigations changed based on subsequent learning or experiences?
- Have you encountered situations since then where you have applied the skills or knowledge gained from this training activity?
- How does your understanding of patient pathways now inform how you view the decision-making process for investigations?
- In what ways has the experience of discussing alternative investigations contributed to your broader counselling skills and your ability to navigate complex diagnostic scenarios?
- Can you see connections between this experience and your preparedness for communicating with patients in other contexts, such as explaining test limitations?
- How has this training activity contributed to your understanding of the Genetic Counsellor’s expertise within a multidisciplinary team?
- Thinking about your future practice, how will this experience inform your approach to situations where genetic testing is not straightforward?
- What transferable skills, such as critical thinking or communication of complex information, did this training activity help to develop, and how will you continue to hone these skills?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 2 |
Outcome
Employ knowledge of patient pathways in a range of healthcare settings to contribute to the Genetic Counsellor’s expertise as part of a multidisciplinary team. |