Training activity information
Details
Analyse, interpret and draft a clinical report for diagnosis and risk stratification of ALL, to include:
- Gene fusion detection
- Copy number assessment (ploidy and specific genes)
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 analysing, interpreting, and drafting a clinical report for the diagnosis and risk stratification of ALL.
- Consider how the learning outcomes apply, specifically in relation to reporting complex findings derived from gene fusion detection and copy number assessment.
- Discuss with your training officer to gain clarity of what is expected of you in relation to the specific genetic subtypes of ALL and their associated risks, ensuring these are accurately incorporated into the final report for risk stratification.
What is your prior experience of this activity?
- Think about what you already know about analysing data related to gene fusions (e.g., using RT-PCR or sequencing) and copy number variations (e.g., using FISH, SNP array or NGS).
- Consider possible challenges you might face during the activity, such as integrating findings from different assay types (e.g., fusion panel results and copy number data) or interpreting complex karyotypes.
- Recognise the scope of your own practice for this activity i.e. know when you will need to seek advice or help, and from whom. You will need to seek advice from your Training Officer when required, for example if complex karyotypes or conflicting data from different molecular assays complicate the final diagnosis or risk stratification.
- Acknowledge how you feel about interpreting complex genomic abnormalities that determine the risk stratification of acute leukaemia.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop, such as systematically integrating gene fusion data and copy number assessment results for a unified diagnosis.
- Identify the specific insights you hope to gain into the spectrum of genomic abnormalities in ALL, and how these findings are used for accurate diagnosis and risk stratification and communicated in a clinical report.
What additional considerations do you need to make?
- Consult actions identified following previous experiences of integrating multi-modal data sets (e.g., NGS and FISH) for diagnosis.
- Identify important information you need to consider before embarking on the activity, such as reviewing classification systems and risk stratification guidelines for ALL that rely on genomic findings.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate whilst analysing results for gene fusions and copy number alterations for ALL risk stratification?
- Are you encountering situations such as:
- Conflicting results between different assays (e.g., cytogenetics vs. NGS fusion detection or Karyotype vs WGS and/or SNP array ploidy assessment)?
- Rare or highly complex abnormalities (e.g., unusual aneuploidies or novel fusions) that challenge standard ALL subtype classification?
- Difficulty integrating findings from different assays (e.g., ploidy assessment and specific gene fusion detection) for accurate risk assessment?
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 integrating findings from different assays when results conflict?
- Consider the steps you are taking in the moment, such as:
- Immediately seeking additional academic resources or guidelines to verify the classification and risk association of a rare abnormality.
- Considering alternative classifications if the genomic profile does not fit a standard ALL subtype.
- How are you feeling in that moment? For instance, are you finding it difficult to interpret complex aneuploidies or identify novel fusions? Is it affecting your confidence in accurately classifying and risk stratifying the ALL case?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice. For example, are you successfully integrating gene fusion and copy number data to classify the ALL case using established risk criteria? Or are you needing support because highly complex genomic profiles or uncertain clinical significance require senior pathological consultation?
- What are you learning as a result of the unexpected development? For example, are you gaining insight into the critical integration requirements when combining findings from different molecular methodologies for ALL diagnosis?
On action
What happened?
- Begin by summarising the key steps you took when analysing, interpreting, and drafting a clinical report for the diagnosis and risk stratification of ALL. What methods did you use for gene fusion detection and copy number assessment, and what key genetic alterations (fusions, copy number changes, ploidy) did you identify?
- Consider specific events, actions, or interactions which felt important, such as how you interpreted these findings in the context of ALL diagnosis and risk stratification, and what challenges you faced when analysing complex genetic data and drafting the clinical report, including IQC/EQA.
- Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, immediately addressing unexpected or complex genetic profiles encountered during interpretation.
- How did you feel during this experience, e.g., did you feel focused on integrating complex data (fusions, copy number, ploidy) for accurate risk stratification or challenged by the complexity of the genetic data for ALL?
How has this experience contributed to your developing practice?
- Identify what learning you can take from this experience regarding ALL genomic analysis and reporting. What strengths did you demonstrate, e.g., improved ability to analyse and interpret genetic data for ALL diagnosis and risk stratification?
- What skills and/or knowledge gaps were evident, e.g., unfamiliarity with the prognostic significance of specific genetic alterations in ALL?
- Compare this experience against previous engagement with similar activities – were any previously identified actions for development achieved? Has your practice improved in interpreting the associated IQC and EQA data to contribute to the reliability of your genetic findings?
- Identify any challenges you experienced, such as needing to seek advice or clarification on scope of practice regarding complex or unexpected genetic profiles encountered, and how you reacted to this. How does comprehensive genetic analysis and reporting contribute to accurate diagnosis and risk-adapted therapy for ALL 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, with regards to specific types of gene fusions, copy number alterations, or aspects of ALL risk stratification that require further study or practice.
- What will you do differently next time you approach ALL genomics, for instance, by proactively taking actions to enhance your skills in interpreting complex ALL genetic profiles and preparing informative reports?
- Do you need to practise any aspect of the activity further, such as reviewing databases of ALL alterations, risk stratification guidelines, or engaging in discussions with experts for continued development in ALL genomic analysis?
Beyond action
Have you revisited the experiences?
- How have your subsequent experiences of analysing, interpreting, and drafting clinical reports for ALL risk stratification since completing this specific training activity led you to revisit your initial approach or decisions during that activity? For example, how a subsequent case requiring integration of complex findings from both FISH (copy number) and NGS (fusions) forced you to re-evaluate the rigour of your initial data integration protocol you applied during your first attempt at this training activity?
- Considering what you understand about ALL reporting and integrating multi-assay data now, were the actions or considerations you identified after your initial reflection on this training activity sufficient? How have you since implemented or adapted improvements in your analysis, interpretation, and reporting for ALL risk stratification based on further learning and experiences? For example, how you proactively reviewed and integrated the current risk stratification guidelines for ALL based on genomic findings (e.g., hyperdiploidy vs. specific fusions) based on further learning?
- Has discussing challenging ALL reports with complex fusion or copy number data or the impact of risk stratification on clinical management with colleagues or supervisors changed how you now view your initial experience in this training activity? For example, how professional storytelling with a senior colleague about a case where incorrect ploidy assessment led to inappropriate therapy selection refined your understanding of the critical nature of accurate, multi-modal data integration for ALL diagnosis?
How have these experiences impacted upon current practice?
- How has the learning from this initial training activity, in combination with subsequent experiences, contributed to your overall confidence and competence in analysing and reporting ALL genomic data, particularly in preparing for assessments like interpreting FISH analysis or Case-Based Discussions (CBDs)?
- How has reflecting back on this specific training activity, combined with everything you’ve learned since, shaped your current approach to ALL report drafting and risk stratification? How does this evolved understanding help you identify when something is beyond your scope of practice or requires escalation? For example, how your evolved approach means you now routinely seek advice immediately when conflicting findings arise between fusion detection and copy number assessment, recognising this requires expert pathological verification?
- Looking holistically at your training journey, how has this initial ALL reporting experience, revisited with your current perspective, contributed to your development in effective analysis and reporting and collaborating with relevant specialities for complex leukaemia diagnosis?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 4 |
Outcome
Analyse, interpret and prepare interpretive reports for common haematological malignancies, including results for somatic variants, clonality, and somatic hypermutation. |
| # 5 |
Outcome
Interpret the associated IQC and EQA of the laboratory tests for investigation of haematological malignancies. |
| # 6 |
Outcome
Practice with the relevant specialties for the diagnosis, monitoring and management of haematological malignancies. |