Solid Cancers 2 —
Training activity: 5

Details

Prepare a range of interpretative reports, including somatic and germline variants for ovarian and breast tumours

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 preparing interpretative reports for ovarian and breast tumours that include somatic and germline variants.
• Consider how the learning outcomes apply, specifically in relation to evaluate clinical significance of variants and describe implications of somatic/germline variants.
• Discuss with your training officer to gain clarity of what is expected of you in relation to reporting language for potential hereditary risk.

What is your prior experience of this activity?

• Think about what you already know about somatic and germline variant interpretation specifically in ovarian and breast cancer.
• Consider possible challenges you might face during the activity, such as reporting germline findings, including implications for the patient and family, and think about how you might handle them.
• 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 when germline findings suggest high hereditary risk and require specific genetic counselling referral pathways.
• Acknowledge how you feel about preparing reports with both somatic and germline variants.

What do you anticipate you will learn from the experience?

• Consider the specific skills you want to develop, such as evaluating the clinical significance of variants and describing their implications in a report format for ovarian and breast cancers.
• Identify the specific insights you hope to gain into the integration of somatic and germline results and the importance of clear communication regarding hereditary cancer risk.

What additional considerations do you need to make?

• Consult actions identified following previous experiences reporting somatic or germline findings.
• Identify important information you need to consider before embarking on the activity, such as guidelines for germline variant classification, reporting language for potential hereditary risk, and pathways for genetic counselling referral.

In action

Is anything unexpected occurring?

• Are you noticing anything surprising or different from what you anticipate whilst preparing a report involving both somatic and germline variants for ovarian or breast tumours? How did this compare to previous reporting experiences?
• Are you encountering situations such as:
  • Discrepancies between genomic instability status and BRCA mutation result in HRD testing for ovarian cancers (e.g. GI negative but BRCA1/2 mutant)?
  • Ambiguous variant classifications where the somatic status conflicts with the suspected germline pathogenicity?
  • Challenges in explaining inheritance patterns or hereditary risk concisely within the interpretive report?
  • Difficulty integrating pharmacogenomic implications (e.g., PARP inhibitor eligibility) in real-time?

How are you reacting to the unexpected development?

• How is this impacting your actions? For example, are you responding to the situation appropriately? Did you need to consult variant databases or genetic guidelines on the spot?
• Consider the steps you are taking in the moment, such as immediately checking the specific guidelines for germline variant reporting or pausing the somatic variant classification until the hereditary risk is verified.
• How are you feeling in that moment? For instance, did managing this complexity affect your confidence in reporting on both variant types simultaneously? Are you finding it difficult to adapt your procedural thinking?

What is the conclusion or outcome?

• Identify how you are working within your scope of practice. For example, are you successfully phrasing the section of the report dealing with hereditary risk using appropriate terminology? Or are you needing support because the conflicting somatic/germline information requires specialist genetic counselling input?
• What are you learning as a result of the unexpected development? For example, are you gaining immediate insight into the precise reporting requirements for integrated somatic and germline findings?

On action

What happened?

• Begin by summarising the key steps you took when preparing the report(s) integrating both somatic and germline variants for the ovarian and breast tumour case(s).
• Consider specific events, actions, or interactions which felt important, such as how you assessed the implication of a BRCA1/2 finding (somatic or germline) for therapeutic eligibility (e.g., PARP inhibitors), or how you phrased the hereditary risk section.
• Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, immediately consulting the genetic counselling referral pathway when a germline pathogenic variant was identified, ensuring the required process was documented correctly.
• How did you feel during this experience, e.g., did you feel acutely aware of the ethical and familial responsibility or challenged by the complexity of integrating two distinct classes of variant into one report?

How has this experience contributed to your developing practice?

• Identify what learning you can take from this experience regarding integrated reporting. What strengths did you demonstrate, e.g., accurate application of classification guidelines to both somatic and germline variants?
• What skills and/or knowledge gaps were evident, e.g., difficulty articulating the complex implications of a variant of uncertain significance that affects both therapeutic planning and hereditary risk?
• Compare this experience against previous engagement with similar activities – were any previously identified actions for development achieved? Has your practice improved in clearly delineating the somatic implications versus the hereditary risk implications in the final report?
• Identify any challenges you experienced, such as needing to seek advice or clarification on scope of practice regarding the exact language required to explain potential hereditary risk to a non-genetics specialist, 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 the integrated reporting of somatic and germline findings for breast and ovarian cancer.
• What will you do differently next time you approach drafting an integrated report, for instance, by proactively utilising a standardised checklist to ensure all germline risk communication requirements are met?
• Do you need to practise any aspect of the activity further, such as reviewing the reporting of pharmacogenomics related to breast/ovarian cancer or key learning outcomes related to integrating both somatic and hereditary cancer risk?

Beyond action

Have you revisited the experiences?

• How have your subsequent experiences of preparing reports with integrated somatic and germline variants since completing this specific training activity led you to revisit your initial approach or decisions during that activity? For example, how a subsequent ovarian cancer case with conflicting somatic/germline findings (e.g., a variant of uncertain significance requiring further workup) forced you to re-evaluate the clarity of your reporting structure differentiating hereditary risk from therapeutic eligibility you applied during your first attempt at this training activity?
• Considering what you understand about evaluating clinical significance and communicating implications of somatic/germline variants 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 use of standardised terminology for hereditary risk based on further learning and experiences? For example, how you proactively reviewed and integrated the referral criteria for clinical genetics services to ensure reports accurately direct patients based on germline findings?
• Has discussing challenging germline reporting scenarios or the impact of reporting hereditary findings on patient families with colleagues, peers, 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 breakdown in communication regarding familial risk due to ambiguous report phrasing refined your understanding of the critical nature of transparent reporting of germline implications?

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 evaluating and reporting complex somatic/germline variants, particularly in preparing for assessments like interpreting a germline variant and discussing its relevance? For example, how your accumulated expertise in integrating now enables you to confidently interpret a BRCA1 variant and discuss its therapeutic and hereditary implications in an assessment?
• How has reflecting back on this specific training activity, combined with everything you’ve learned since, shaped your current approach to integrated reporting? 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 germline findings suggest high hereditary risk requiring non-routine genetic counselling referral pathways?
• Looking holistically at your training journey, how has this initial experience, revisited with your current perspective, contributed to your development in evaluating the clinical significance of variants and describing the implications of somatic/germline variants?

Relevant learning outcomes

#	Outcome
# 2	Outcome Analyse, interpret and prepare interpretive reports of clinically relevant findings for patients with central nervous system (CNS), sarcoma tumours, and somatic and germline variants in ovarian and breast cancer.
# 3	Outcome Evaluate the clinical significance of variants identified for ovarian and breast tumours using a range of bioinformatics tools following best practice guidelines.
# 7	Outcome Describe the implications of the identification of somatic and germline variation in tumour samples for the patient and their family.
# 8	Outcome Practice with relevant specialties for the diagnosis and treatment of cancer patients, and contribute to multidisciplinary team meetings.