Rare Disease 2 —
Training activity: 7

Details

Participate in population health testing relevant to your local laboratory or region.

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 this activity help you demonstrate your ability to engage in genomic population health testing?
• What do you need to know about the principles of the screening assays used (e.g., NIPT for aneuploidy or targeted carrier screening) and the eligibility criteria for the specific population being tested?
• Do you understand the public health impact, sensitivity, and specificity of the tests used in your local region compared to individual diagnostic testing?

What do you anticipate you will learn from the experience?

• What insights do you hope to gain regarding the logistical and ethical challenges of large-scale genomic screening?
• What is your current understanding of the UK National Screening Committee recommendations or local health initiatives relevant to this training activity?
• How do you anticipate this activity will improve your ability to manage high-volume data and communicate the implications of population-level results?

What actions will you take in preparation for the experience?

• How will you gain understanding on the laboratory’s role in the wider regional healthcare pathway?
• Will you review relevant literature or Standard Operating Procedures (SOPs) specifically designed for population health screening?
• What potential difficulties might you face, such as managing incidental findings or ensuring data quality across a large cohort, and how do you plan to handle them?
• How do you feel about shifting your focus from individual rare disease cases to population-level health management?
• Under what circumstances (e.g., identifying a high-risk result in a low-risk population) will you seek immediate advice or clarification from a senior scientist to ensure safe and high-quality service delivery?

In action

What are you doing?

• How are you currently approaching population-level screening tasks, and which specific workflow stage (e.g., reception, high-throughput analysis, or triage) are you focusing on?
• What decisions are you making right now regarding eligibility criteria or identifying results that require urgent clinical follow-up?
• Which aspects of the screening process feel intuitive, and which require conscious effort to ensure adherence to public health protocols or specific reporting thresholds?

How are you progressing with the activity?

• How effective are your current strategies in managing high-volume data while maintaining the accuracy required for a population-level service?
• How are you managing real-time challenges, such as sample backlogs, atypical findings in low-risk populations, or high-throughput technical artifacts?
• What insights are you gaining regarding the logistical complexities of regional testing or broader genomic health trends as the data unfolds?

How are you adapting to the situation?

• Which alternative approaches are you considering to resolve workflow bottlenecks or improve the efficiency and safety of the service?
• How are you identifying the point where you must seek immediate clarification from a senior specialist regarding unusual findings or protocol deviations?
• How are you ensuring your actions remain within your professional scope of practice and align with local quality management procedures?
• In what ways are your real-time contributions ensuring the delivery of a safe and high-quality service to a large number of participants?

On action

What happened?

• How would you summarise the key aspects of the population health testing activity you participated in?
• Which specific screening programmes or assays (e.g., NIPT for aneuploidy, regional carrier screening, or newborn initiatives) were involved?
• What did you notice regarding the scale and nature of the data, and how did the workflow or quality control differ from routine rare disease testing?
• How did you feel when transitioning from individual rare disease cases to managing population-level health data?

How has this experience contributed to your developing practice?

• How has your ability to manage high-volume datasets and your understanding of analytical sensitivity and specificity improved?
• What specialist knowledge did you develop regarding the public health impact of genomics and the criteria for successful screening?
• In what ways did you successfully manage unexpected challenges, such as complex incidental findings or strict eligibility criteria?
• How did your ‘reflection-in-action’ influence the technical efficiency and safety of the service?
• How does this experience relate to the requirements for your future practice as genomics moves toward widespread population-level applications?

What will you take from the experience moving forward?

• Do you require a deeper understanding of statistical models or the ethical frameworks governing large-scale screening?
• How will you apply new data-management strategies or a greater awareness of broader clinical pathways to your routine practice?
• Which specific ‘next steps’—including reviewing UK National Screening Committee guidelines or seeking senior feedback on clinical utility—will you take to consolidate your learning?
• What additional support or resources, such as population frequency databases or automated analysis platforms, have you identified as necessary for your ongoing development?

Beyond action

Have you revisited the experiences?

• How has your understanding of screening algorithms and the public health impact of genomics evolved since your initial participation in these programs?
• Which specific senior behaviours for managing high-throughput data or population trends observed during OTAs have you since assimilated into your own practice?
• What broad learning points regarding the differences between individual diagnostics and population-level screening have emerged from reviewing your collective reflections?
• How has professional storytelling with peers provided new insights into the logistical and ethical challenges of managing atypical results in low-risk populations?

How have these experiences impacted upon your current practice?

• In what ways has this activity supported the development of broader skills, such as data quality management and stakeholder communication?
• How are you applying population health principles, such as refined focus on clinical utility and eligibility criteria, to your wider diagnostic work?
• How is this experience supporting your preparation for ‘in-person’ assessments (e.g., CBDs) regarding the ethical or statistical nuances of genomic screening?

How might these contribute towards your future practice?

• Which high-level skills, such as clinical reasoning at scale and interprofessional collaboration, do you recognise as vital for your future career as a Clinical Scientist?
• Which clear next steps—including staying abreast of national recommendations or contributing to service innovation—will you take to remain at the forefront of genomic population health?

Relevant learning outcomes

#	Outcome
# 5	Outcome Engage in genomic population health testing.