Rare Disease 1 —
Training activity: 10

Details

Participate in service delivery for rare disease services, to include:

• Communication with other healthcare professionals
• Troubleshooting of testing

 

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.

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 are the intended outcomes of the training activity?

• Regarding triaging, how will your communication with other healthcare professionals (e.g., clinicians or genetic counsellors) assist you in gathering the necessary clinical information to correctly triage rare disease referrals?
• Regarding analysis, how will learning to troubleshoot testing ensure that the chromosomal and targeted analyses you perform meet the required quality standards for diagnostic service?
• Regarding interpretation, how will interacting with the wider multidisciplinary team help you evaluate the clinical significance of identified variants and ensure nomenclature is accurately applied?
• What do you need to know before embarking on the activity? Consider reviewing departmental Standard Operating Procedures (SOPs) for communicating with external stakeholders and the protocols for reporting and resolving technical non-conformances.

What do you anticipate you will learn from the experience?

• Consider the specific insights you hope to gain. For example, what will you learn about the impact of effective communication on reducing diagnostic turnaround times or preventing laboratory errors?
• How do you expect this activity to improve your ability to identify the root cause of technical failures during the analysis phase?
• Think about what you already know. How does your foundational knowledge of genomic testing help you explain technical results or limitations to other healthcare professionals?

What actions will you take in preparation for the experience?

• How will you gain clarity on your specific responsibilities when interacting with other professionals and the level of autonomy you have in troubleshooting.
• Consider possible challenges you might face—such as communicating a complex or ambiguous result to a non-genetics specialist or dealing with a major equipment failure—and think about how you might handle them.
• Identify how you feel about embarking on this training activity. Given that communication and troubleshooting are critical to patient safety and service continuity, how are you preparing for this level of professional responsibility?

In action

What are you doing?

• Pay attention to your actions. How are you currently approaching communication with other healthcare professionals? Why have you selected this specific style or method for this interaction?
• What real-time decisions are you making as you troubleshoot testing? For example, how are you deciding which technical variables to investigate first?
• Which aspects of this service delivery feel intuitive, and which—such as interpreting complex variants or explaining a technical failure—require more conscious effort?

How are you progressing with the activity?

• How effective are your current actions in resolving the technical issue or successfully triaging the referral?
• What challenges are you facing in this moment—perhaps a difficult conversation with a clinician or a persistent failure in a chromosomal analysis —and what are you learning as the situation unfolds?
• How does this specific troubleshooting or communication task connect to your existing knowledge and skills in rare disease genomics?

How are you adapting to the situation?

• Are there alternative approaches you should consider if your initial attempt at troubleshooting does not resolve the issue?
• What immediate support or guidance do you need to ensure the service is delivered safely?
• Are you ensuring that you are working strictly within your professional scope of practice as you interact with other healthcare professionals?
• How are you adapting your communication style to ensure that the clinical significance of the findings and the technical limitations of the testing are clearly understood?

On action

What did you notice?

• Summarise the key points of the experience, specifically the instances where you communicated with other healthcare professionals or performed technical troubleshooting.
• What were the essential details—such as the specific clinical question asked by a colleague or the technical nature of a testing failure—that most significantly influenced your approach to service delivery?

What did you learn from the activity?

• What specific skills or knowledge did you develop or improve regarding triaging referrals, performing analysis, or interpreting variants through these real-world service delivery tasks?
• How has this activity improved your ability to communicate complex technical information to non-specialists or your efficiency in technical problem-solving?
• Were there any unexpected challenges or successes during the activity—such as a difficult troubleshooting scenario that led to a process improvement—and what did you learn from these?
• In what ways did your reflection-in-action influence how the situation was eventually resolved?
• How does the experience of participating in daily service delivery and managing technical issues relate to the professional requirements for your post-programme practice as a Clinical Scientist?

What will you take from the experience moving forward?

• What specific areas for continued development in professional communication or technical troubleshooting have you identified as a result of this activity?
• How can you apply the learning from this experience to your routine practice to ensure you consistently provide a high-quality, responsive service to other healthcare professionals?
• Identify the specific actions you will now take—such as creating a troubleshooting guide for common issues or seeking feedback on your communication style—to support the assimilation of what you have learned.
• What support or resources (e.g., mentorship from senior clinical scientists, further technical training on specific equipment, or communication workshops) do you need to further develop in these areas?

Beyond action

Have you revisited the experiences?

• Evaluate and re-evaluate these service delivery experiences. How has your perspective on triaging rare disease referrals evolved as you have interacted with a wider range of healthcare professionals?
• Compare these experiences with those from your Observed Training Activities (OTAs). What specific observable behaviours or practices—such as your proficiency in troubleshooting technical failures during analysis or explaining variant nomenclature —have you assimilated into your routine practice?
• As part of a review of the module, what recurring themes regarding service continuity or communication challenges have you identified by revisiting reflections from multiple training activities?
• Through discussions with your peers or senior colleagues, has your view of a particular troubleshooting scenario or clinical interaction changed as a result of that mutual exchange?

How have these experiences impacted upon your current practice?

• Recognising that these tasks are not isolated incidents, how has participating in service delivery supported your development in wider areas, such as communication skills, presentation skills, or writing reports?
• How have you applied the knowledge and troubleshooting skills gained since the original experience to improve the overall safety and quality of the genomic service you provide today?
• Consider how the learning from these interactions and technical challenges is supporting your preparation for in-person assessments, such as Case-based Discussions (CBDs) on rare disease cases or Direct Observations of Practical Skills (DOPS) related to technical analysis.

How might these experiences contribute towards your future practice?

• What transferable skills—such as high-level problem-solving, professional collaboration, or technical resilience—are you continuing to develop through these activities?
• What clear actions have you identified for the continued development of your communication and troubleshooting skills to ensure you consistently deliver a high standard of patient-centred care in your future post-programme practice?

Relevant learning outcomes

#	Outcome
# 1	Outcome Triage referrals for rare disease genomic investigations.
# 2	Outcome Perform targeted and chromosomal analysis for patients referred for investigation of rare disease.
# 3	Outcome Interpret genomic variants to investigate the clinical significance using appropriate nomenclature.