Adult Genomics —
Training activity: 7

Details

Prepare a range of interpretative reports relevant to adult referrals

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 a range of interpretative reports relevant to adult referrals.
• Review learning outcomes specially relating to interpreting and reporting genomic testing relevant to adult-onset disorders.
• Discuss with your training officer what constitutes a high-quality report for different types of adult referrals (e.g., diagnostic, predictive, carrier, infertility). You should clarify the expected level of detail, terminology, and appropriate recommendations.

What is your prior experience of this activity?

• Think about what you already know about writing genetic reports or scientific reports. Have you prepared reports for adult cases or any of the specific testing types mentioned?
• Consider possible challenges you might face, such as structuring reports effectively, conveying complex genetic information clearly to clinicians, or formulating appropriate recommendations. How might you handle these?
• Recognise the scope of your own practice, knowing when you will need to seek advice or help with report writing, particularly for complex cases or sensitive findings, and from whom.
• Acknowledge how you feel about embarking on preparing official interpretative reports that will impact patient care.

What do you anticipate you will learn from the experience?

• Consider the specific skills you want to develop, drawing upon previous experiences (if any). For example, you might focus on improving your use of standard nomenclature or enhancing the clarity and conciseness of your writing.
• Identify the specific insights you hope to gain, perhaps a better understanding of what information clinicians find most valuable in a report or the importance of adapting the report content for different referral types.

What additional considerations do you need to make?

• Consult any actions you identified following previous experiences, perhaps from prior reporting activities or feedback received on previous reports.
• Identify important information you need to consider before embarking on the activity. This might include reviewing example reports, reviewing reporting guidelines or templates used in your department, and ensuring you understand the specific question the referring clinician needs answered.

In action

Is anything unexpected occurring?

• Are you noticing anything surprising or different from what you anticipate while drafting the interpretative report?
• Are you encountering situations such as:
  • Difficulty synthesising complex data from multiple genomic tests e.g., NGS and triplet repeat analysis into a coherent, flowing narrative in the report?
  • Realising the recommendations for patient management or family follow-up are complex or potentially contradictory based on current guidelines?
  • Struggling to articulate the interpretation of variants of uncertain significance (VUS) or secondary findings in a manner that is concise yet adequately informative for the referring clinician?
• How is this experience comparing with previous experiences of similar activities?

How are you reacting to the unexpected development?

• How is this impacting your actions? Did you adapt or change your report structure or phrasing in the moment?
• Consider the steps you are taking in the moment, such as:
  • Immediately consulting professional guidelines for clinical documentation or report writing templates to ensure adherence to accuracy and appropriate language.
  • Preparing for a multidisciplinary team discussion to seek consensus on complex or uncertain clinical significance that needs to be reflected in the report.
  • Seeking immediate feedback from a senior colleague on your draft report’s structure or the phrasing of a particularly sensitive interpretation or recommendation.
• How are you feeling in that moment? Is the unexpected reporting complexity affecting your confidence in conveying complex genetic information clearly to clinicians? Are you finding it difficult to adapt your writing style to ensure clarity and relevance? Do you feel positive you can 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., successfully ensuring the report clearly outlines the methodologies, findings, and limitations, while remaining within departmental standards.
• What are you learning as a result of the unexpected development? For example, are you gaining a crucial insight into the required terminology for reporting VUS findings, or mastering a more efficient workflow for synthesising information from multiple genetic tests into one comprehensive report?

On action

What happened?

• Begin by summarising the key points of the experience, detailing the types of interpretative reports you prepared e.g., for adult-onset disorders, diagnostic, or infertility cases.
• Describe the key information included in these reports e.g., variant interpretation, clinical significance, recommendations.
• Describe any specific challenges in structuring the reports or conveying complex information clearly and clinically meaningfully.
• Detail any ‘reflect-in-action’ moments while drafting the reports, perhaps adapting your wording or structure immediately based on the complexity of the interpretation.

How has this experience contributed to your developing practice?

• Identify what learning you can take from this experience. What skills or knowledge did you develop or improve in preparing interpretative reports for adult genetic investigations? What strengths did you demonstrate?
• What did you learn about the specific requirements or standards for reporting genomic testing relevant to adult-onset disorders?
• How does your report writing practice compare to previous reports you have prepared? Has your practice in producing clear, concise reports improved?
• Acknowledge whether you needed to seek advice or clarification regarding the content or phrasing of the report, for instance, clarifying recommendations for patient management.

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, perhaps incorporating feedback received on your reports.
• What will you do differently next time to ensure your reports are clear, accurate, timely, and relevant to the requesting clinician?
• What areas for continued development have been identified in your report writing skills for adult genomics? Do you need to practise any aspect further?
• What resources or support (e.g., report templates, senior review, guidelines) might you need to further refine your reporting skills?

Beyond action

Have you revisited the experiences?

• Revisit the reports you prepared for this activity. Evaluate and re-evaluate your reporting style, content, and clarity.
• Compare your current approach to writing interpretative reports with how you initially approached it. How has your reporting style or the level of detail you include changed (e.g., better integration of clinical recommendations)?
• Have you received feedback on your reports, or reviewed reports from experienced colleagues, which has provided insights into improving your reporting?
• Have you had opportunities to see how your reports are used by clinicians, providing insight into the essential information they need to manage the patient?

How have these experiences impacted upon current practice?

• How has gaining more experience in interpreting and reporting on genetic findings relevant to adult-onset disorders improved your confidence and accuracy in generating clinical reports?
• How have the principles of clear result interpretation and reporting learned here been applied to other areas of genomics or different types of reports you now work on?
• How does the accumulated learning from this activity support your preparation for observed ‘in-person’ assessments, such as a DOPS titled ‘Prepare a report for an adult genetic investigation’?
• As the complexity of genomic reports increases, how will your foundational interpretation and reporting skills enable you to effectively communicate relevant information to clinicians and other healthcare professionals in the future?
• What actions will you take to continue developing your skills in writing clear, concise, and clinically relevant reports?

Relevant learning outcomes

#	Outcome
# 5	Outcome Interpret and report genomic testing relevant to adult-onset disorders, including appropriate recommendations for patient management.