Training activity information
Details
Produce an interpretive genotyping report for a patient referred for disease association and/or pharmacogenetic reactions
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.
Considerations
- Local procedures and reporting in-line with accreditation standards
- Internal quality controls and external quality assessment measures
- The proposed mechanisms for disease association and pharmacogenomic reactions
- The clinical impact of positive/negative or presence/absence of the associated HLA for the patient
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 producing a clear, objective, and interpretive genotyping report for HLA-associated diseases (e.g., coeliac disease, ankylosing spondylitis) or pharmacogenetic reactions (e.g., Abacavir hypersensitivity).
- Consider how the learning outcomes apply, specifically in relation to preparing clinical reports and practicing in accordance with quality standards.
- Discuss with your training officer to gain clarity of what is expected of you in relation to appropriate report structure, standardized interpretation language, and clarifying the limitations of association findings versus definitive diagnosis.
What is your prior experience of this activity?
- Think about what you already know about writing interpretive clinical reports, understanding risk association (e.g., relative risk), and the basics of HLA disease associations or pharmacogenomics.
- Consider possible challenges you might face during the activity, such as translating complex genetic risk factors into clinically understandable language or dealing with genotypes that suggest intermediate risk.
- 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 the genotyping result is unexpected based on the clinical history, requiring senior guidance on how to phrase the interpretive conclusion.
- Acknowledge how you feel about the responsibility of writing a report that influences clinical decisions regarding drug safety or diagnosis.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop, such as synthesising complex genetic data with clinical context or mastering the standardized terminology for reporting HLA disease associations.
- Identify the specific insights you hope to gain into the clinical role of HLA in pharmacogenetic reactions (e.g., Abacavir and HIV).
What additional considerations do you need to make?
- Consult actions identified following previous experiences of producing interpretive reports or reviewing association data.
- Identify important information you need to consider before embarking on the activity, such as reviewing the specific HLA association (e.g., HLA-B*57:01/Abacavir), standard report templates, and clarifying required disclaimers regarding report limitations.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate whilst producing the interpretive genotyping report?
- Are you encountering situations such as:
- The genotyping result showing an unexpected allele or genotype that is not commonly associated with the referred condition or reaction?
- Conflicting or ambiguous information in the patient’s clinical history that makes correlating the genotype with the disease risk difficult?
- Difficulty accessing or finding up-to-date, relevant literature on the specific HLA-disease association or pharmacogenetic reaction?
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 framing the interpretive conclusion?
- Consider the steps you are taking in the moment, such as:
- Immediately consulting clinical guidelines or recent literature to verify the significance of an unexpected allele.
- Drafting the report with highly objective, cautious language to account for conflicting clinical information.
- How are you feeling in that moment? For instance, are you finding it difficult to translate complex genetic risk into clinically understandable terms? Is it affecting your confidence in producing the interpretive report independently?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice. For example, are you successfully producing a clear report that outlines the known risk association (e.g., Abacavir hypersensitivity)? Or are you needing support because the complex, non-standard genotype requires senior input to determine the appropriate clinical risk categorisation?
- What are you learning as a result of the unexpected development? For example, are you mastering the structured approach required for interpreting genetic association data? Or gaining insight into the importance of verifying clinical context when producing interpretive reports?
On action
What happened?
- Begin by summarising the key steps you took when producing the interpretive report.
- Consider specific events, actions, or interactions which felt important, such as how you researched the specific HLA-disease association (e.g., coeliac disease) or pharmacogenetic reaction (e.g., Abacavir hypersensitivity) and structured the interpretive conclusion.
- Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, immediately revising the phrasing of the risk statement when realising the initial wording was too definitive or seeking clarification on the clinical history before finalising the interpretation.
- How did you feel during this experience, e.g., did you feel precise about terminology or challenged by translating risk into clinical language?
How has this experience contributed to your developing practice?
- Identify what learning you can take from this experience regarding interpreting genotyping data and writing interpretive reports. What strengths did you demonstrate, e.g., clarity and objectivity in technical data presentation?
- What skills and/or knowledge gaps were evident, e.g., familiarity with legal disclaimers for pharmacogenetic risk or interpreting intermediate risk alleles?
- Compare this experience against previous engagement with similar activities – were any previously identified actions for development achieved? Has your practice improved in preparing clinical reports?
- Identify any challenges you experienced, such as interpreting intermediate risk alleles, ambiguous clinical context, or needing advice on scope of practice regarding writing non-factual interpretive statements, and how you reacted to this.
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 improving your interpretation and reporting skills for disease associations and pharmacogenetics.
- What will you do differently next time you approach writing such a report, for instance, by proactively confirming the target audience e.g., specialist vs general practitioner before drafting the interpretation section?
- Do you need to practise any aspect of the activity further, such as specific HLA associations (e.g., HLA-B*57:01) or key learning outcomes related to practicing in accordance with quality standards?
Beyond action
Have you revisited the experiences?
- How have your subsequent experiences of producing an interpretive genotyping report since completing this specific training activity led you to revisit your initial approach or decisions during that activity? For example, how a subsequent case involving a complex HLA pharmacogenetic association (e.g., Abacavir hypersensitivity) forced you to re-evaluate the diligence of your phrasing and inclusion of relevant clinical caveats during your first attempt at this training activity.
- Considering what you understand about genetic risk reporting, clinical utility, and the limitations of association findings 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 report structure or clarity of the clinical implication based on further learning and experiences? For example, how you proactively implemented a mandatory disclaimer regarding the distinction between risk association and definitive diagnosis based on further learning.
- Has discussing specific HLA-associated diseases or pharmacogenetic variants or feedback from clinicians who used the report changed how you now view your initial experience in this training activity? For example, how professional storytelling with a senior colleague about a report where ambiguous phrasing led to unnecessary patient anxiety regarding risk refined your understanding of the critical nature of clear communication and scientific writing in clinical reports.
How have these experiences impacted upon current practice?
- How has the learning from this initial training activity, in combination with subsequent experiences of genotyping report production, contributed to your overall confidence and competence in translating complex genetic findings into clinically understandable reports, particularly in preparing for observed assessments (DOPS or OCEs) such as ‘Communicate results of an HLA-disease association/pharmacogenomic test to a service user’? For example, how your accumulated ability in scientific writing and applying clinical context now enables you to confidently discuss genotype risks during an OCE assessment.
- How has reflecting back on this specific training activity, combined with everything you’ve learned since, shaped your current approach to interpretive reporting?
- How does this evolved understanding help you identify when a case is complex, requires specialist clinical input for interpretation, or falls outside routine reporting guidelines and when this is beyond your scope of practice? For example, how your evolved approach means you now routinely seek expert clinical input immediately when the genotyping result is unexpected based on the clinical history, recognising this requires senior pathological input.
- Looking holistically at your training journey, how has this initial reporting experience, revisited with your current perspective, contributed to your development in meeting the learning outcomes related to preparing clinical reports and practicing in accordance with quality standards? For example, how this foundational experience has supported your development in transferable skills such as communicating complex information clearly and understanding clinical application that will be valuable in future roles or responsibilities.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 5 |
Outcome
Prepare clinical reports for laboratory investigations for a range of patients referred to an H&I laboratory. |
| # 6 |
Outcome
Practice in accordance with quality and accreditation standards. |