Training activity information
Details
Analyse the appropriate genetic testing for germline cancer susceptibility referrals, to include:
- Breast/ovarian,
- Lynch syndrome
- FAP
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?
- Review learning outcomes related to this activity. What specific knowledge or skills are you expected to demonstrate when analysing the appropriateness of genetic testing for referrals related to germline susceptibility conditions like breast/ovarian, Lynch syndrome, and FAP?
- What constitutes a successful analysis of a referral for appropriateness? What criteria will you use to evaluate if the requested testing aligns with clinical guidelines and best practice?
- How does ensuring the appropriateness of testing contribute to the effective diagnosis and management of patients with inherited cancer risk, as per the module aim?
- Discuss with your training officer to gain clarity on what is specifically expected when analysing referral appropriateness.
What is your prior experience of this activity?
- Think about what you already know about analysing the appropriateness of genetic testing referrals, particularly for germline cancer susceptibility. Have you seen or participated in the assessment of referrals for breast/ovarian, Lynch, or FAP?
- Consider possible challenges you might anticipate when analysing the appropriateness of referrals e.g., incomplete clinical information, unusual presentations, referrals for inappropriate testing and think about how you might handle them.
- Recognise the scope of your own practice. Do you know when and from whom you will need to seek advice or help e.g., a clinical scientist or clinical geneticist, if you are unsure about the appropriateness of a referral?
- Acknowledge how you feel about embarking on this training activity. Are you comfortable evaluating referral appropriateness, or does it feel challenging?
What do you anticipate you will learn from the experience?
- Drawing upon previous experiences (perhaps from S-G-S3 where you may have analysed referral appropriateness), what specific skills related to analysing appropriateness for germline cancer referrals do you want to develop or refine?
- What specific insights do you hope to gain into the clinical criteria and guidelines that determine the appropriateness of testing for conditions like breast/ovarian, Lynch syndrome, and FAP?
- How do you think this activity will help you better understand the patient pathway and the role of genetics in managing inherited cancer risk?
What additional considerations do you need to make?
- Consult actions you identified following previous experiences related to referral analysis that are relevant to germline cancer referrals.
- Identify important information you need to have or access before analysing the referral for appropriateness. This might include access to relevant clinical guidelines, local testing protocols, and comprehensive clinical and family history details provided on the referral form.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate during the analysis of the genetic tests for these germline cancer susceptibility referrals?
- Are you encountering situations such as:
- A variant classification (e.g., VUS) that requires more focused attention and reference to multiple interpretation guidelines and databases (ClinVar, HGMD, LOVD) than initially expected?
- The genetic findings not aligning with the expected clinical or family history for Breast/ovarian, Lynch syndrome, or FAP, challenging your understanding of the pathogenesis?
- Complex genomic rearrangements appearing, requiring highly focused attention to detail in the sequencing data or MLPA results.
- How is this analysis comparing with previous experiences of similar activities, such as germline variant interpretation in other modules?
How are you reacting to the unexpected development?
How is this impacting your actions? Did you adapt or change your approach to analysis or interpretation in the moment?
- Consider the steps you are taking in the moment, such as:
- Immediately reviewing raw data or employing alternative filtering strategies to investigate an unexpected or unclear genetic finding (e.g., checking for mosaicism).
- Seeking immediate advice from a senior colleague or clinical scientist regarding the interpretation of a novel variant or a complex genetic profile that doesn’t fit the expected phenotype.
- Ensuring that your analysis considers the context of the referral and the limitations of the testing methodology used.
- How are you feeling in that moment? Is the unexpected finding affecting your confidence in the diagnostic sequence you are following? Are you finding it difficult to adapt your knowledge of clinical significance to the observed genetic alterations? Do you feel positive you could reach a successful conclusion?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice (e.g., ensuring your analysis accurately documents data reliability limitations and classification rationale, knowing when to escalate complex variant interpretation).
- What are you learning as a result of the unexpected development? For example, are you mastering a new troubleshooting technique for integrating complex genomic data or gaining crucial insight into the clinical relevance of specific genetic alteration patterns observed in Lynch syndrome or FAP?
On action
What happened?
- Begin by summarising the key points of the experience, detailing the key genetic markers or alterations that were important to analyse in the Breast/ovarian, Lynch syndrome, and FAP cases.
- Consider specific events, actions or interactions which felt important, such as specific patterns of genetic abnormalities e.g., pathogenic variants, large deletions/duplications that were associated with particular syndromes or clinical presentations.
- Include any ‘reflect-in-action’ moments, where you adapted to the situation as it unfolded, such as challenges encountered during the analysis of the genetic data e.g., variant classification, interpreting complex reports. How did you feel during this experience?
How has this experience contributed to your developing practice?
- Identify what learning you can take from the experience. Did you deepen your understanding of the genetic basis of inherited cancer susceptibility syndromes?
- What strengths did you demonstrate e.g., systematic approach to analysis, proficiency with bioinformatic tools? What skills and/or knowledge gaps were evident e.g., improving your ability to interpret different types of genetic data relevant to germline testing, such as copy number variations?
- Compare this experience against previous engagement with similar activities. Has your practice in analysing germline genetic data improved?
- Identify any challenges you experienced e.g., interpreting complex reports and how you reacted to these. Were you able to overcome the challenges?
- Acknowledge anything significant about the activity, such as how the analysis of genetic data informs risk assessment, diagnosis, and management decisions in these malignancies.
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 learned, including incorporating any feedback received.
- What resources (e.g., variant databases, guidelines) will you use to enhance your skills in analysing genetic data from germline cancer susceptibility referrals?
- How will you ensure accuracy and consistency in your analysis and interpretation? What will you do differently next time?
- What further knowledge do you need to acquire about specific genetic markers, variant classification, and their clinical significance?
Beyond action
Have you revisited the experiences?
- Revisit your previous reflections for this specific training activity. Comparing earlier analyses of genetic data for Breast/ovarian, Lynch syndrome, and FAP cases to more recent ones, how has your ability to interpret variant data or identify significant findings evolved?
- Have discussions in variant classification meetings or case reviews helped refine your analytical approach?
- Compare this experience to other related training activities. For example, how does analysing germline data compare to analysing somatic data? What shared analytical principles exist?
- Have you reviewed the actions for improvement you identified previously? Have you completed these actions, and are you ready to demonstrate this new learning in practice?
How have these experiences impacted upon current practice?
- How have your multiple experiences analysing data for these specific germline syndromes improved your ability to identify pathogenic variants and understand their clinical relevance in your current work?
- Has your improved analytical skill influenced how you approach quality control or spot potential issues in the data?
- Consider how the accumulated learning from this training activity supports you in preparing for observed assessments for the module, such as a DOPS titled ‘Classify a variant’.
- How has this experience contributed to your ability to integrate complex genomic findings for diagnosis and management decisions?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 5 |
Outcome
Analyse, interpret and report tests for patients referred with germline cancer. |