Paediatric Genomics —
Training activity: 1

Details

Select the correct genetic test(s) for a range of paediatric patient samples referred for investigation

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?

• Identify what is expected of you in relation to selecting the correct genetic test(s) for paediatric referrals.
• Consider how the learning outcomes apply, specifically in relation to applying appropriate testing strategies to patients referred for paediatric disorders.
• What does selecting the correct genetic test(s) look like for a range of paediatric patient samples?
• Discuss with your training officer to gain clarity on expectations for selecting appropriate testing strategies for this activity.

What is your prior experience of this activity?

• Think about what you already know about selecting genetic tests for paediatric referrals.
• Consider possible challenges you might face during the activity, such as ambiguous referrals or choosing between multiple potential tests, and think about how you might handle them.
• Recognise the scope of your own practice for this activity i.e. know what situations could arise that will require you to seek advice or help, and from whom when selecting correct genetics tests
• Acknowledge how you feel about your ability to correctly selecting genetic tests for a range of paediatric samples.

What do you anticipate you will learn from the experience?

• Consider the specific skills you want to develop related to applying appropriate testing strategies.
• Identify specific insights you hope to gain regarding the factors that influence test selection for paediatric patients e.g., clinical details, family history, cost-effectiveness, turnaround time considerations.

What additional considerations do you need to make?

• Consult actions identified following previous experience of selecting the correct genetic tests for a range of paediatric patient samples.
• Identify important information you need to consider before embarking on the activity, such as the relevant clinical presentations for exemplar disorders e.g., CF, fragile X, SMA, PWS/AS, DMD/BMD, disorders of sexual differentiation, learning disabilities.
• You should also review appropriate genomic laboratory testing strategies for paediatric patients according to current best practice and the advantages/limitations of different testing methodologies e.g., targeted gene panels, genome-wide copy number assays, triplet repeat assays, NGS sequencing.

In action

Is anything unexpected occurring?

• Are you noticing anything surprising or different from what you anticipate whilst selecting the correct genetic test(s) for this paediatric referral?
• Are you encountering situations such as:
  • The clinical information being ambiguous or highly incomplete, requiring you to rely on a generalised testing algorithm rather than a targeted plan?
  • A complex or vague paediatric phenotype requiring immediate consideration of a much wider range of testing options e.g., different panels, technologies, or genomic approaches than expected?
  • You are realising that the most appropriate test falls outside of local policy or immediate laboratory capability.

How are you reacting to the unexpected development?

• How is this impacting your actions? For example, are you responding to the situation appropriately? Are you adapting or changing your approach to selection?
• Consider the steps you are taking in the moment, such as:
  • Immediately consulting a testing algorithm to narrow down the options based on incomplete data?
  • Seeking immediate advice from a senior colleague or training officer to ensure the test selection is appropriate given the complexity of the phenotype or the lack of clarity in the referral?
  • Are you adapting your test selection to remain within the scope of available resources and laboratory capabilities?
• How are you feeling in that moment? For instance, are you finding it difficult to adapt your knowledge of testing strategies? Is it affecting your confidence in deciding which specific genes, panels, or test types are appropriate?

What is the conclusion or outcome?

• Identify how you are working within your scope of practice. For example, are you successfully managing the situation yourself? Or are you needing support because the ambiguity or uncertainty of the case is beyond your current scope?
• What are you learning as a result of the unexpected development? For example, are you learning a more effective technique for justifying test selection when clinical information is limited, or gaining insight into the specific testing policies for ambiguous phenotypes?

On action

What happened?

• Begin by summarising the key points of the experience of selecting the correct genetic test(s) for paediatric referrals.
• Consider specific events, actions, or interactions which felt important during the test selection process, such as reviewing complex clinical details e.g., presentation, family history, previous testing, that significantly influenced your choice.
• Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, changing your initial test selection based on unexpected information or realising a test fell outside immediate local capability. How did you feel during this experience?

How has this experience contributed to your developing practice?

• Identify what learning you can take from this experience regarding appropriate genetic testing strategies for paediatric disorders.
• What strengths did you demonstrate e.g., knowledge of national guidelines for testing in children? What skills and/or knowledge gaps were evident e.g., unfamiliarity with the specific indications, advantages, or limitations for a particular genetic test?
• Compare this experience against previous test selection activities – were any previously identified actions for development achieved? Has your practice in test selection improved?
• Identify any challenges you experienced e.g., ambiguous referral information, lack of specific guidelines for a case and how you reacted to these. Did this affect your ability to deal with the situation? Were you able to overcome the challenges?
• Did you need to seek advice or clarification, or to escalate to ensure that you were working within your scope of practice?
• Acknowledge any changes in how you feel about accurately selecting genetic tests for the range of paediatric patient referrals.

What will you take from the experience moving forward?

• Identify the actions or ‘next steps’ you will now take to support the assimilation of what you have learnt, including from any feedback you have received regarding your ability to select the correct genetic tests for the samples received.
• What will you do differently next time you select genetic tests for paediatric patients? Has anything changed in terms of what you would do if you were faced with a similar situation again?
• Do you need to practise any aspect of the activity further, such as exploring specific areas of genetic testing for paediatric disorders or consulting specific resources or guidelines more routinely?

Beyond action

Have you revisited the experiences?

• Have you reviewed your actions from your previous reflections for this activity? What specific actions did you previously identify you would need to take to improve your practice related to applying appropriate testing strategies?
• Have you completed these previously identified actions? For example, if you planned to explore testing indications for specific exemplar disorders (e.g., fragile X, SMA, PWS/AS), how did completing this review impact your subsequent performance of test selection?
• Engage in professional storytelling with peers, near peers, or colleagues about challenges and successes in test selection. How has observing paediatric clinics or ward rounds influenced your understanding of the clinical context, and subsequently, your perspective on appropriate test selection?

How have these experiences impacted upon current practice?

• Consider how the accumulated learning from performing or reflecting on selecting genetic tests will support you in preparing for observed ‘in-person’ assessments for the module, such as the Direct Observation of Practical Skills (DOPS) titled ‘Identify if a referral is appropriate for the testing required’.
• How has your practice in applying appropriate testing strategies developed and evolved over time? For example, can you identify instances in your current practice where the foundational knowledge gained from selecting tests for paediatric referrals has informed decisions for other patient groups or types of referrals?
• What transferable skills e.g., clinical reasoning or diagnostic planning did you develop through this activity, and how will this understanding help you evaluate and adopt new genomic technologies or testing algorithms in paediatric genomics in the future?

Relevant learning outcomes

#	Outcome
# 1	Outcome Apply appropriate testing strategies to patients referred for paediatric disorders.