Rare Disease 1 —
Training activity: 1

Details

Perform duty scientist tasks for rare disease investigations to include:

• Triage of referrals
• Liaison with internal colleagues to resolve matters arising e.g. issues with sample preparation

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?

• How will you prepare to accurately triage referrals for rare disease genomic investigations?
• How do you plan to employ specialist knowledge of quality management when identifying and resolving matters such as sample preparation issues with internal colleagues?
• What do you need to know before embarking on the activity? Consider reviewing the National Genomic Test Directory for rare and inherited disorders, local Standard Operating Procedures (SOPs) for triage, and quality management protocols for handling sub-optimal samples.

What do you anticipate you will learn from the experience?

• What specific insights do you hope to gain from the duty role, particularly regarding the clinical impact of your triage decisions on the diagnostic pathway for rare disease patients?
• Thinking about what you already know about rare disease testing strategies (e.g., NGS panels or triplet repeat analysis), how do you expect this experience to refine your ability to judge if a referral is appropriate for the requested test?

What actions will you take in preparation for the experience?

• How could you gain clarity on the scope of the duty scientist role and the limits of your responsibility when resolving laboratory issues?
• What possible challenges do you anticipate facing—such as managing urgent clinical requests, dealing with incomplete referral forms, or resolving technical failures in sample prep—and how have you planned to handle them?
• Identify how you feel about embarking on this training activity; given that duty tasks are essential for delivering a safe and high-quality genomic service, how are you preparing for this professional responsibility?

In action

What are you doing?

• How are you currently approaching the triage of rare disease referrals, and why have you chosen this particular decision-making process?
• What real-time decisions are you making regarding the appropriateness of a test or the suitability of a sample based on the clinical information provided?
• Which aspects of your role—such as identifying a standard testing strategy—feel intuitive, and which—such as resolving complex sample preparation issues —require more conscious effort?

How are you progressing with the activity?

• How effective are your current triage actions in ensuring cases are processed accurately and safely?
• What challenges are you facing in this moment, perhaps a high volume of urgent cases or a technically difficult quality issue—and what are you learning from them as the day progresses?
• How does this triage activity connect to your existing knowledge and skills in rare disease genomics and laboratory quality protocols?
• In what ways is your liaison with internal colleagues to resolve sample preparation issues helping you learn more about the practical limitations of genomic laboratory techniques?

How are you adapting to the situation?

• Are there alternative approaches or testing strategies you should consider for a specific case if the initial plan is complicated by a sub-optimal sample?
• What immediate support or guidance do you need to resolve a query before a triage decision is finalised?
• In your interactions with laboratory colleagues, are you ensuring that you are working strictly within your professional scope of practice?
• How are you applying your specialist knowledge of quality management in real-time to ensure the delivery of a safe and high-quality service?

On action

What did you notice?

• Summarise the key points of the experience, specifically the specific duty tasks you performed, such as triaging referrals for adult-onset disorders or liaising with colleagues regarding sample preparation issues.
• What were the essential clinical or technical details—such as specific symptoms for Huntington’s disease or CMT, or sub-optimal DNA concentrations—that most significantly influenced your decisions during the duty session?

What did you learn from the activity?

• What specific skills or knowledge did you develop regarding triaging referrals for rare disease genomic investigations, particularly in identifying if a referral is appropriate for the requested testing?
• How has this experience improved your ability to employ specialist knowledge of quality management to resolve practical laboratory issues, such as those arising during sample preparation?
• Were there any unexpected challenges or successes during the activity—such as managing an urgent request for a predictive test or resolving a cross-specialty sample issue—and what did you learn from these?
• In what ways did your reflection-in-action influence the workflow or the safety of the diagnostic pathway?
• How does the experience of acting as a duty scientist for rare diseases relate to the 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 triage or quality management 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 deliver a safe and high-quality adult genomic service?
• Identify the specific actions you will now take—such as further study of the National Genomic Test Directory or attending a variant meeting—to support the assimilation of what you have learned?
• What support or resources (e.g., senior clinical scientist mentorship, specialist SOPs, or risk calculation tools) do you need to further develop your expertise in these duty tasks?

Beyond action

Have you revisited the experiences?

• How has your perspective on triaging referrals for rare disease genomic investigations evolved as you have encountered a broader range of clinical scenarios beyond your initial duty scientist rotations?
• Comparing these experiences with your Observed Training Activities (OTAs)—such as identifying if a referral is appropriate for the testing required—what specific observable behaviours have you now assimilated into your routine practice?
• As part of a module review, what recurring themes or necessary actions have you identified by revisiting reflections from multiple training activities related to triage and service delivery?
• Through discussions with laboratory colleagues, has your understanding of how to resolve sample preparation issues changed as a result?

How have these experiences impacted upon your current practice?

• Recognising that these tasks are not isolated incidents, how has this experience supported your development in wider areas, such as writing interpretative reports or providing advice to other healthcare professionals regarding sample requirements?
• How have you applied the specialist knowledge of quality management gained from this activity to improve the safety and quality of the rare disease genomic service you provide today?
• How is the learning from your duty scientist rotations supporting your preparation for ‘in-person’ assessments, such as Case-based Discussions (CBDs) or Direct Observations of Practical Skills (DOPS) related to adult genetic investigations?

How might these experiences contribute towards your future practice?

• What transferable skills—such as the ability to synthesise complex technical findings with quality management protocols—are you continuing to develop as you move toward becoming a Clinical Scientist?
• What clear actions have you identified for the continued development of your specialist knowledge in rare disease genomics to ensure you consistently deliver a high standard of patient-centred care?

Relevant learning outcomes

#	Outcome
# 1	Outcome Triage referrals for rare disease genomic investigations.
# 5	Outcome Employ specialist knowledge of quality management within a Genomics laboratory.