Rare Disease 2 —
Training activity: 19

Details

Participate in service delivery for rare disease testing, 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?

• How will participating in active service delivery help you demonstrate your ability to review referrals and accurately apply the criteria within the National Genomic Test Directory for rare and inherited disorders?
• What essential knowledge regarding service delivery pathways and the principles of quality management must you possess to ensure that your contributions to the laboratory workflow result in a high-quality rare disease genomics service?
• In what ways do you intend to employ your specialist knowledge to ensure that the processes of performing targeted, whole genome, and chromosomal analysis are both safe and clinically appropriate?
• How will you prepare to interpret genomic variants and report findings for diagnostic, presymptomatic, and familial/carrier testing in a way that provides clear and actionable information for the clinical team?

What do you anticipate you will learn from the experience?

• What specific insights do you hope to gain regarding the impact of effective communication with other healthcare professionals on the clinical management and treatment pathways of patients referred for rare disease testing?
• How do you expect this activity to improve your proficiency in the troubleshooting of testing, specifically in identifying the root causes of technical failures or managing sub-optimal samples while maintaining service continuity?
• Thinking about what you already know, which aspects of the rare disease service—such as managing high-volume workloads or navigating complex test eligibility criteria—do you anticipate will be the most challenging or rewarding to learn more about?
• In what ways do you anticipate this experience will help you understand the relationship between laboratory Key Performance Indicators (KPIs), such as turnaround times, and the urgency of clinical decision-making?

What actions will you take in preparation for the experience?

• What preparatory activities have you planned to gain clarity on your specific responsibilities within the laboratory testing pipeline and the limits of your authority when resolving technical issues?
• Which resources, such as the National Genomic Test Directory, local Standard Operating Procedures (SOPs) for troubleshooting, and protocols for inter-professional communication, do you intend to review to ensure your practice remains evidence-based?
• What possible challenges do you anticipate facing during the activity—such as managing urgent clinical requests, addressing technical artefacts, or communicating complex genomic results to non-specialists—and how do you plan to handle them?
• How do you feel about taking on the professional responsibility of routine service delivery, given that your actions and interpretations directly inform the clinical management of rare disease patients and their families?
• What actions will you take to ensure you remain strictly within your professional scope of practice while providing specialist advice or managing service-related queries?

In action

What are you doing?

• How are you currently approaching your role within the rare disease service workflow, and what is the technical rationale for the sequence of tasks you have chosen to follow?
• What real-time decisions are you making as you navigate the testing pipeline, particularly regarding the triage of referrals or the troubleshooting of technical failures?
• Which aspects of active service delivery—such as performing chromosomal or targeted analysis – feel intuitive to you, and which parts—such as applying the National Genomic Test Directory criteria—require more conscious effort?
• How are you ensuring that your current actions align with the laboratory’s Standard Operating Procedures (SOPs) and quality management protocols?

How are you progressing with the activity?

• How effective are your current actions in ensuring that the genomic investigations you are handling remain safe and of high quality?
• What challenges are you encountering in this moment, such as managing a high volume of urgent clinical requests, addressing sub-optimal samples, or resolving persistent technical artefacts?
• What are you learning from the laboratory data as it unfolds, particularly when you encounter unexpected findings or patterns that require further investigation or a change in testing strategy?
• In what ways do your current actions in the laboratory connect to your existing knowledge of rare disease inheritance patterns and the clinical urgency of the patient pathway?

How are you adapting to the situation?

• Are there alternative testing strategies or investigative approaches you should consider if the initial laboratory findings do not align with the patient’s clinical presentation?
• What immediate support or guidance do you need from your Training Officer or a senior Clinical Scientist to resolve a complex troubleshooting issue or to clarify a query from another healthcare professional?
• How are you adjusting your communication style when liaising with colleagues or external specialists to ensure that technical limitations and clinical implications are clearly understood?
• How are you ensuring that your decisions and actions remain strictly within your professional scope of practice while you manage the responsibilities of service delivery?

On action

What did you notice?

• How would you summarise the key points of your participation in the rare disease service delivery, specifically regarding your involvement in the triage of referrals, the troubleshooting of testing, and the reporting of findings?
• What specific clinical details or interactions – such as applying the National Genomic Test Directory criteria or liaising with other healthcare professionals – did you notice were most significant during the service delivery process?
• Which ‘reflect-in-action’ moments did you notice where you had to adapt as the situation unfolded, such as resolving a technical failure or adjusting a testing strategy based on new clinical information?
• What were your feelings while taking on the professional responsibility for routine service delivery, particularly when handling cases with high clinical urgency or complex interpretations?

What did you learn from the activity?

• What specific skills or knowledge did you develop regarding the review of referrals and the alignment of rare disease investigations with the National Genomic Test Directory?
• How did this experience improve your ability to analyse, interpret, and report results for diagnostic, presymptomatic, and familial rare disease testing?
• What did you learn from the troubleshooting of testing failures, and how did your actions ensure that the service remained safe and of high quality?
• In what ways did your real-time decisions—such as seeking advice from a senior Clinical Scientist or re-evaluating quality control metrics—influence the final outcome and the delivery of the service?
• How does this experience of active service delivery relate to the requirements for your future post-programme practice as a Clinical Scientist?

What will you take from the experience moving forward?

• What areas for continued development in service delivery pathways, troubleshooting, or inter-professional communication have you identified as a result of this activity?
• How will you apply the learning from this experience to your routine laboratory practice to ensure rare disease genomic investigations are consistently handled to a high standard?
• What specific ‘next steps’ will you now take to support the assimilation of what you have learned, such as creating new troubleshooting guides or seeking feedback on your triage decisions?
• What support or resources (e.g., senior mentorship, access to specialist clinical databases, or further training on Whole Genome Analysis) do you need to further develop your expertise in rare disease service delivery?

Beyond action

Have you revisited the experiences?

• How have you re-evaluated your initial decisions regarding the triage of referrals and the application of the National Genomic Test Directory in light of your subsequent experience with a broader range of rare disease phenotypes?
• How do the troubleshooting strategies you employed during this activity compare to the observable professional behaviours and technical practices of senior Clinical Scientists you have shadowed during Observed Training Activities (OTAs)?
• When reviewing your reflections across the Rare Diseases module as a whole, what overarching themes have you identified regarding your ability to justify specific testing strategies—such as choosing between targeted panels, chromosomal analysis, or whole genome sequencing?
• In what ways has the discussions with peers or colleagues regarding challenging service delivery scenarios changed your perspective on managing high-volume workloads while maintaining strict quality management standards?

How have these experiences impacted upon your current practice?

• How has your understanding of the broader operational aspects of the rare disease service pathway (from sample reception to reporting) influenced your daily interactions with clinical and administrative colleagues?
• In what ways has the accumulated learning from this activity supported your preparation for ‘in-person’ assessments, such as a Case-based Discussion (CBD) on rare disease pathways or an Observed Communication Event (OCE) where you must provide advice to another healthcare professional?
• How has your current practice in interpreting and reporting genomic findings been enhanced by a more holistic view of the service, ensuring that your management recommendations are appropriate for the patient and family?
• How have you applied the specialist knowledge of troubleshooting and quality control gained since the original experience to improve the overall safety and quality of the genomic service you provide today?

How might these experiences contribute towards your future practice?

• What transferable skills in workflow management, technical resilience, and clinical reasoning have you solidified through this activity that will be essential for your future role in leading service improvements or innovations?
• What clear actions for continued development have you identified to ensure your practice remains aligned with the evolving National Genomic Test Directory and national best practice guidelines?
• How will your understanding of the logistical and technical challenges of rare disease service delivery help you evaluate and adopt new genomic technologies or testing algorithms in the future?
• How has this experience shaped your professional identity as a Clinical Scientist, particularly regarding your commitment to a patient-centred approach within a high-pressure diagnostic service?

Relevant learning outcomes

#	Outcome
# 1	Outcome Review referrals for patients referred for rare disease genomic testing.
# 2	Outcome Analyse, interpret and report results for diagnostic, presymptomatic and familial/carrier rare disease genomic testing.
# 3	Outcome Perform targeted analysis, whole genome analysis, and chromosomal analysis for patients referred for rare disease genomic testing.
# 4	Outcome Interpret genomic variants to investigate their clinical significance for patients referred for rare disease genomic testing.
# 6	Outcome Outline how the principles of quality management contribute to the delivery of high-quality rare disease genomics services.
# 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.