Training activity information
Details
Analyse and interpret the results of testing for CF for paediatric patients
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 does success look like?
- Identify what is expected of you in relation to analysing and interpreting CF test results.
- Consider how the learning outcomes apply, specifically concerning performing targeted analysis, interpreting genomic variants including copy number changes, and interpreting/reporting genomic testing with recommendations.
- What does accurate analysis and interpretation of CF test results look like, contributing to diagnosing paediatric patients and understanding implications for family members?
- Discuss with your training officer to gain clarity on expectations for interpreting and reporting CF results.
What is your prior experience of this activity?
- Think about what you already know about analysing and interpreting CF genetic test results.
- Consider possible challenges you might face during the activity, such as identifying novel variants, interpreting variants of uncertain significance (VUS), or dealing with complex genotypes, and think about how you might plan to handle them.
- Recognise the scope of your own practice for this activity i.e. know when you will need to seek advice or help, with analysis and interpretation.
- Acknowledge how you feel about analysing and interpreting the results of testing for CF for paediatric patients.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop related to analysing and interpreting CF genetic data, including variant classification and the identification of copy number changes.
- Identify specific insights you hope to gain regarding the clinical implications of different CFTR genotypes and how to translate complex genetic findings into clear, clinically relevant reports for paediatric patients and their families.
What additional considerations do you need to make?
- Consult actions identified following previous experience of analysing and interpreting results for paediatric patients.
- Identify important information you need to consider before embarking on the activity, such as the key genetic mechanisms of Cystic Fibrosis (CF), common CFTR variants and associated clinical phenotypes, and established guidelines for classifying CFTR variants. You should also review bioinformatic tools necessary for interpretation, how copy number changes in the CFTR gene are identified, and the essential clinical information needed for accurate interpretation.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate during the analysis and interpretation of the Cystic Fibrosis (CF) test results?
- Are you encountering situations such as:
- Identifying a novel or complex genotype that requires significant effort and reference to external interpretation guidelines or CF-specific databases to classify?
- Encountering a variant of uncertain significance (VUS) in the CFTR gene, despite expecting a clear common pathogenic variant?
- The genetic findings contradicting the paediatric patient’s clinical presentation or history?
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 the analysis?
- Consider the steps you are taking in the moment, such as:
- Immediately employing alternative analysis strategies to investigate unexpected or unclear findings (e.g., reviewing raw sequencing data or checking multiple variant databases)?
- Seeking immediate advice from a senior colleague or a clinical scientist regarding the interpretation of a novel or complex CFTR variant or genotype?
- Are you ensuring that your analysis considers the potential implications of the findings for the patient and their family?
- How are you feeling in that moment? For instance, are you finding it difficult to focus on the specific variant spectrum and interpretation nuances observed in CFTR testing? Is it affecting your ability to identify and classify the potentially clinically significant variants?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice. For example, are you successfully managing the interpretation challenge, or needing support due to the complexity of the genotype or VUS classification?
- What are you learning as a result of the unexpected development? For example, are you learning a specific, efficient approach to VUS classification in CFTR testing, or gaining critical insight into integrating complex data with clinical presentation?
On action
What happened?
- Begin by summarising the key points of the experience of analysing and interpreting the results of testing for Cystic Fibrosis (CF).
- Consider specific events, actions, or interactions which felt important, such as encountering complex or rare variants, verifying interpretation based on clinical/family history, or performing calculations.
- Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, employing alternative analysis strategies to investigate unexpected findings or consulting external interpretation guidelines immediately. 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 the genetic basis of CF or how the interpretation of CF data informs patient management and family implications.
- What strengths did you demonstrate e.g., ability to classify variants accurately? What skills and/or knowledge gaps were evident e.g., unfamiliarity with specific CF variants or complex genotype interpretation?
- Compare this experience against previous interpretation activities – were any previous identified actions for development achieved? Has your practice in analysis and interpretation improved?
- Identify any challenges you experienced e.g., dealing with variants of uncertain significance (VUS) or contradictory findings and how you reacted to these. Did this affect your ability to deal with the situation? Were you able to overcome the challenges?
- Identify anything significant about the activity, such as needing to seek advice or clarification on interpreting a novel finding, or needing to escalate to ensure that you were working within your scope of practice.
- Acknowledge any changes in your own feelings related to analysing and interpreting the results for CF specifically for paediatric patients.
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 analyse and interpret the results of testing for CF in paediatric patients.
- What will you do differently next time you analyse and interpret CF genetic data? 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 enhancing your skills in interpreting specific CF variants, or routinely using specific databases or guidelines to ensure accuracy and consistency?
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 performing targeted analysis, interpreting variants, and reporting results?
- Have you completed these previously identified actions? For example, if you planned to consult established guidelines for classifying CFTR variants, how did completing this review impact your subsequent performance when classifying a complex genotype?
- Engage in professional storytelling with peers, near peers, or colleagues about challenging CF interpretations. How have discussions in multidisciplinary team meetings or new academic learning about the clinical presentation of CF provided new insights into the significance of specific findings in CF testing?
How have these experiences impacted upon current practice?
- Consider how the accumulated learning from performing or reflecting on CF analysis will support you in preparing for observed ‘in-person’ assessments for the module, such as a DOPS titled ‘Analyse and interpret results for a paediatric genetic investigation’.
- How has your practice related to analysis and interpretation developed and evolved over time? For example, how does your experience with interpreting the relationship between CFTR genotype and clinical presentation inform your current analysis of complex variants in other monogenic paediatric disorders?
- What actions will you take to further develop your skills in interpreting complex genetic findings, and how will this foundational understanding of CF diagnostics help you adapt to new challenges in analysing or reporting these findings in the future?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 2 |
Outcome
Perform targeted analysis for patients referred with paediatric conditions. |
| # 4 |
Outcome
Interpret genomic variants, including copy number changes, and investigate the clinical significance of variants using bioinformatic tools using best practice guidelines. |
| # 5 |
Outcome
Interpret and report genomic testing relevant to paediatric conditions, including appropriate recommendations for patient management. |