Rare Disease 2 —
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 arising with sample preparation
• Liaison with external healthcare professionals to resolve matter arising e.g. clinical information to support test eligibility, sample issues

Type

Entrustable training activity (ETA)

Evidence requirements

Evidence the activity has been undertaken by the trainee repeatedly, consistently, and effectively over time, in a range of situations. This may include occasions where the trainee has not successfully achieved the outcome of the activity themselves. For example, because it was not appropriate to undertake the task in the circumstances or the trainees recognised their own limitations and sought help or advice to ensure the activity reached an appropriate conclusion. ​

Reflection at multiple timepoints on the trainee learning journey for this activity.

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 does success look like?

• How will performing the triage of referrals help you demonstrate your ability to accurately apply the criteria within the National Genomic Test Directory for rare and inherited disorders?
• In what ways do you plan to employ your specialist knowledge to ensure that your triage decisions and internal/external liaisons result in a safe, high-quality, and clinically appropriate service?
• How do you intend to use this duty rotation to demonstrate appropriate communication skills when providing advice to external clinicians regarding test eligibility or resolving sample-related issues with internal laboratory colleagues?
• What specific metrics or outcomes (e.g., meeting turnaround time targets, ensuring sample suitability, or clarifying clinical indications) will you use to define a successful duty session?
• What steps have you planned to gain clarity on the expected depth of clinical judgment required for this role?

What is your prior experience of this activity?

• Think about what you already know about the role of the Duty Scientist in a clinical genomics laboratory. What previous experiences—perhaps from other modules—can you draw upon when reviewing complex rare disease referrals?
• Consider possible challenges you might face during this activity, such as managing high-volume workloads, adhering to strict turnaround times, or navigating ambiguous clinical information on referral forms.
• How do you recognise the scope of your own practice for this activity? Do you know which situations (e.g., an unusual dosage pattern or a rare variant in SMN1) will require you to seek immediate advice or help from a senior Clinical Scientist or the Quality Lead?
• How do you feel about taking on the professional responsibility of the duty scientist role, given the significant impact your decisions have on the patient’s diagnostic and management pathway?

What do you anticipate you will learn from the experience?

• What specific communication skills do you want to develop, such as tailoring complex genomic information for non-specialist external healthcare professionals?
• Identify the specific insights you hope to gain regarding the clinical impact of your triage decisions on the diagnostic pathway and treatment options for patients referred for rare disease testing.
• In what ways do you anticipate this activity will refine your clinical reasoning when judging the appropriateness of a test strategy for a complex rare disease phenotype?

What additional considerations do you need to make?

• How will you consult actions identified following previous experiences of variant interpretation or triage tasks to ensure you are building upon your existing diagnostic planning skills?
• Which specific clinical and quality standards—including relevant entries in the National Genomic Test Directory, local SOPs for triage, and quality management protocols for handling sub-optimal samples—have you reviewed to ensure your approach to performing rare disease duty scientist tasks is evidence-based and safe?
• How will you gain clarity regarding the limits of your responsibility when resolving technical or clinical issues?

In action

During the activity, did anything unexpected occur?

• What surprises or deviations from your plan are you noticing while triaging rare disease referrals or managing internal and external queries?
• How are you addressing ambiguous clinical referrals that lack the phenotypic detail required to confirm eligibility against the National Genomic Test Directory?
• In what ways are you resolving internal laboratory issues, such as sub-optimal DNA concentration or contamination concerns, to prevent service delays?
• How are you synthesising technical information to provide clear, rapid responses to urgent external clinical queries (e.g. from clinicians or midwives)?
• How does this specific duty session compare with your previous experiences of managing laboratory workflows and communicating with other specialties?

How are you reacting to the unexpected development?

• How is the unexpected situation leading you to adapt your triage approach or reprioritise tasks in response to new clinical information?
• How are you utilising the National Genomic Test Directory or local SOPs in real-time to resolve eligibility or sample suitability queries?
• How are you identifying the point where you must seek immediate advice from a senior Clinical Scientist or the Quality Lead to remain within your professional scope of practice?
• How are you adjusting your communication style to ensure technical limitations or requirements are clearly understood by non-genomics specialists?
• How are you feeling in that moment, and is the pressure of live service delivery affecting your confidence in making independent triage decisions?

What was the conclusion or outcome?

• How effectively are you working within your scope of practice, and at what point did you determine that senior intervention was required?
• What are you learning in real-time regarding efficient techniques for resolving sample issues or the broader clinical impact of your triage decisions?
• In what ways are your real-time decisions ensuring that the final diagnostic pathway for the rare disease patient remains accurate and timely?

On action

What happened?

• How would you summarise the key points of this duty scientist session, specifically regarding the types of rare disease referrals triaged and the internal or external liaisons performed?
• Which specific events, actions, or interactions felt most important, such as clarifying clinical eligibility against the National Genomic Test Directory or resolving a technical issue with sample preparation?
• What ‘reflect-in-action’ moments did you notice where you had to adapt as the situation unfolded, for instance, reprioritising tasks due to an urgent clinical request or seeking immediate advice for a sub-optimal sample?
• How did you feel during the experience, particularly when managing the professional responsibility of making triage decisions that directly impact the patient’s diagnostic pathway?

How has this experience contributed to your developing practice?

• What specific learning can you take from this experience regarding triaging rare disease investigations and employing specialist knowledge to ensure a safe and high-quality service?
• What strengths did you demonstrate (e.g., effective communication with external clinicians) and what knowledge gaps were evident (e.g., unfamiliarity with specific test eligibility for a rare phenotype)?
• How does this session compare against your previous duty scientist rotations—were any previously identified actions for development achieved, and has your confidence in independent triage improved?
• Identify any challenges you experienced, such as dealing with incomplete referral forms or managing high workloads, and how you reacted to them. Did you successfully overcome these to maintain service quality?
• Did you need to seek advice or escalate a case to a senior Clinical Scientist or the Quality Lead to ensure you were working strictly within your professional scope of practice?
• How does accurately performing these duty tasks relate to the requirements for your future post-programme practice as a Clinical Scientist?

What will you take from the experience moving forward?

• What specific actions or ‘next steps’ will you now take to support the assimilation of what you have learned, such as reviewing local SOPs for sample rejection or attending a variant interpretation meeting?
• What will you do differently next time you are on duty? Has anything changed in terms of how you would approach a complex clinical query or a technical failure in the lab?
• Do you need to practise any aspect of the activity further, such as refining your communication style for non-specialist healthcare professionals or gaining more experience with the National Genomic Test Directory?
• What support or resources (e.g., expert mentorship, access to specialist clinical databases, or further training on quality management protocols) have you identified as necessary for your ongoing development?

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 and phenotypes 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 of senior scientists have you assimilated into your own 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 and clinical colleagues, has your understanding of how to resolve complex sample preparation issues or test eligibility queries changed as a result of that mutual exchange?

How have these experiences impacted upon current practice?

• Recognising that these duty tasks are not isolated incidents, how has this experience supported your development in wider professional 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, reliability, and quality of the rare disease genomic service you provide today?
• In what ways is the cumulative 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?
• What transferable skills—such as the ability to synthesise complex technical findings with quality management protocols or manage time-sensitive decisions—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?
• How has your ability to recognise the limits of your own scope of practice developed over time, and can you identify specific instances where you now more confidently escalate complex queries for senior review?

Relevant learning outcomes

#	Outcome
# 1	Outcome Review referrals for patients referred for rare disease genomic testing.
# 7	Outcome Employ specialist knowledge of rare disease genomic testing to deliver a safe and high-quality service.
# 8	Outcome Demonstrate appropriate communication skills with healthcare professional colleagues to inform the clinical management of patients referred for rare disease genomic testing.