Cancer —
Training activity: 16

Details

Interpret and report on a range of genetic testing in germline cancer susceptibility, 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 interpreting and reporting genetic testing results for germline susceptibility conditions like breast/ovarian, Lynch syndrome, and FAP?
• What constitutes a successful interpretative report for these conditions? What elements are essential for clarity, accuracy, and clinical utility? This includes appropriate variant classification, clinical correlation, and clear implications for the patient and family.
• How does accurate and clinically relevant interpretation and reporting contribute to the diagnosis and management pathway for patients with inherited cancer risk, as per the module aim?
• Discuss with your training officer to gain clarity on what is specifically expected in terms of interpretation depth and reporting style.

What is your prior experience of this activity?

• Think about what you already know about interpreting and reporting genetic testing results, particularly in the context of germline cancer susceptibility. Have you interpreted or reported on results for genes related to breast/ovarian, Lynch, or FAP before?
• Consider possible challenges you might anticipate when interpreting and reporting results e.g., interpreting variants of uncertain significance (VUS), considering implications for family members, ensuring clear clinical context in the report, and think about how you might handle these.
• 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 senior scientist, clinical scientist, or clinical geneticist, particularly for complex interpretations or reporting challenging cases?
• Acknowledge how you feel about embarking on this training activity. Are you comfortable interpreting and reporting these types of results?

What do you anticipate you will learn from the experience?

• Drawing upon previous experiences where you interpreted and reported variants, what specific skills related to interpreting complex variants or writing clear and clinically relevant reports for germline cancer susceptibility do you want to develop or refine?
• What specific insights do you hope to gain into the nuances of interpreting results for specific genes (e.g., BRCA1/2, MLH1, APC) and translating genetic findings into actionable clinical information for breast/ovarian, Lynch syndrome, and FAP?
• How do you think this activity will help you meet the module aim regarding understanding the application and implications of genetic testing?

What additional considerations do you need to make?

• Consult actions you identified following previous experiences related to interpretation or reporting that are relevant to germline cancer results.
• Identify important information you need to have or access before interpreting and reporting the results. This might include the patient’s clinical presentation, family history, results from other relevant tests, and access to variant databases and interpretation guidelines.

In action

Is anything unexpected occurring?

• Are you noticing anything surprising or different from what you anticipate while interpreting and preparing the report for these germline cancer susceptibility cases (Breast/ovarian, Lynch syndrome, FAP)?
• Are you encountering situations such as:
  • Difficulty synthesising information from multiple family members or multiple genetic alterations into a single, coherent interpretation and report?
  • Needing to address conflicting findings or complex clinical implications e.g., explaining complex inheritance patterns that require significant deviation from standard report templates?
  • Realising the management recommendations for cascade testing or risk reduction are ambiguous based on current guidelines for a specific syndrome.
• How is this interpretation and reporting activity comparing with previous experiences of reporting in other modules?

How are you reacting to the unexpected development?

• How is this impacting your actions? Did you adapt or change your report structure, use of nomenclature, or phrasing in the moment?
• Consider the steps you are taking in the moment, such as:
  • Immediately reviewing relevant clinical literature or reporting guidelines to ensure accuracy and appropriate use of standard nomenclature.
  • Discussing the case in a multidisciplinary meeting or seeking input from a clinical geneticist to formulate comprehensive and accurate recommendations.
  • Seeking immediate feedback from a senior colleague on your draft report’s structure or the phrasing of a particularly sensitive finding (e.g., a VUS in a BRCA gene).
• How are you feeling in that moment? Is the unexpected complexity affecting your confidence in clearly communicating the implications for diagnosis and cascade testing? Are you finding it difficult to adapt your language for the target audience (referring clinicians)? 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 when preparing the report (e.g., ensuring the report clearly outlines the classification of variants and limitations, while deferring counselling advice to appropriate professionals).
• What are you learning as a result of the unexpected development? For example, are you mastering a more effective technique for integrating genetic data and clinical history into a succinct interpretation, or gaining crucial insight into the specific reporting requirements for inherited cancer risk?

On action

What happened?

• Begin by summarising the key points of the experience, detailing the key genetic findings that you included in your reports for Breast/ovarian, Lynch syndrome, and FAP cases.
• Consider specific events, actions or interactions which felt important, such as how you structured your reports to ensure clarity, clinical relevance, and considered the potential impact on the patient and family.
• Include any ‘reflect-in-action’ moments, where you adapted to the situation as it unfolded, such as challenges in interpreting the clinical significance of certain genetic findings or communicating complex information. 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 improve your ability to interpret complex genetic data in the context of inherited cancer susceptibility?
• What strengths did you demonstrate e.g., adherence to reporting guidelines, concise communication? What skills and/or knowledge gaps were evident e.g., understanding the essential components of a comprehensive genetic report for germline cancer susceptibility, including implications for screening, management, and cascade testing?
• Compare this experience against previous engagement with similar activities. Does interpreting and reporting germline results compare favourably against previous experiences or identified actions for development?
• Identify any challenges you experienced e.g., communicating complex implications and how you reacted to these. Were you able to overcome the challenges?
• Acknowledge anything significant about the activity, such as how you communicate the implications of genetic findings to clinicians and potentially to patients via genetic counsellors.

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 about your ability to interpret and report on a range of genetic testing in the context of this training activity.
• What resources or guidelines e.g., professional body recommendations, national guidance will you use to inform your interpretation and reporting of germline genetic data? What will you do differently next time?
• How will you ensure that your reports are timely, accurate, clinically actionable, and sensitive to the patient context?
• What feedback mechanisms can you use to improve your reporting skills?

Beyond action

Have you revisited the experiences?

• Revisit your previous reflections for this specific training activity. Looking back at your past reports for Breast/ovarian, Lynch syndrome, and FAP cases, how has your reporting style evolved in terms of clarity, content, and clinical focus?
• Have discussions with genetic counsellors or clinicians about your reports provided insight into what information is most clinically actionable?
• Compare this experience to other related training activities. For example, how does reporting germline findings compare to reporting somatic findings? What are the unique considerations for germline reports regarding cascade testing and family implications?
• Have you reviewed the actions for improvement you identified previously? Have you incorporated feedback received?

How have these experiences impacted upon current practice?

• How have your repeated experiences interpreting and reporting on these specific germline syndromes improved your confidence in communicating complex information and its clinical significance in your current work?
• Has your improved reporting skill streamlined your workflow or reduced the need for clarification from clinical colleagues?
• How does the accumulated learning from this training activity support you in preparing for observed assessments for the module, such as participating in an Observed Communication Event (OCE) where results are communicated to a clinician?
• How does this skill enable you to effectively prepare clinical reports and participate in communicating results within multidisciplinary teams (MDTs)?

Relevant learning outcomes

#	Outcome
# 5	Outcome Analyse, interpret and report tests for patients referred with germline cancer.