Adult Genomics —
Training activity: 6

Details

Analyse and interpret the results for predictive, carrier or confirmation testing

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 analysing and interpreting results for predictive, carrier, or confirmation testing.
• Review learning outcomes relevant to this training activity, specifically concerning the interpretation of genomic variants) and interpreting and reporting genomic testing.
• Discuss with your training officer what constitutes a successful interpretation and analysis in these distinct testing scenarios, considering the different clinical implications and the importance of clarity for the patient and family.

What is your prior experience of this activity?

• Think about what you already know about interpreting results in the context of predictive, carrier, or confirmation testing.
• Consider possible challenges you might face, such as interpreting results for late-onset disorders (e.g., Huntington’s disease), understanding the implications for family members, or dealing with incidental findings in carrier screening. How might you handle these?
• Recognise the scope of your own practice, knowing when you will need to seek advice or help, particularly regarding complex family scenarios or ethical considerations (e.g., consent for predictive testing), and from whom.
• Acknowledge how you feel about embarking on interpreting results with potentially significant implications for the patient and their family.

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 may focus on improving your ability to phrase interpretations appropriately for different audiences or understanding the nuances of interpreting results with reduced penetrance.
• Identify the specific insights you hope to gain, perhaps a deeper understanding of the clinical pathways and counselling requirements associated with predictive or carrier testing.

What additional considerations do you need to make?

• Consult any actions you identified following previous experiences, perhaps from prior interpretation or reporting activities.
• Identify important information you need to consider before embarking on the activity, such as reviewing guidelines on predictive testing, understanding the patient’s family history, and reviewing relevant ethical and legal considerations.

In action

Is anything unexpected occurring?

• Are you noticing anything surprising or different from what you anticipate while interpreting these specific test types?
• Are you encountering situations such as:
  • An unexpected result with potentially sensitive implications (e.g., a positive predictive result for a late-onset disorder like Huntington’s disease), requiring careful consideration of counselling and ethical issues?
  • Ambiguity in the original consent or referral documentation, making it difficult to confidently proceed with an interpretation for a predictive or carrier test?
  • Difficulty in integrating the genetic finding with the family history information, particularly when assessing risk or carrier status for extended family members?
• 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 focus on the ethical or family implications in the moment?
• Consider the steps you are taking in the moment, such as:
  • Immediately consulting national guidelines on predictive testing or internal protocols to ensure the interpretation aligns with ethical and legal considerations.
  • Pausing the interpretation process to re-review the clinical context of the referral and the patient’s consent status.
  • Seeking immediate advice from a clinical geneticist or senior scientist regarding the interpretation of a result for a predictive or carrier test, particularly concerning family implications or complex ethical issues.
• How are you feeling in that moment? Is the unexpected complexity affecting your confidence in translating the genetic finding into an appropriate interpretation for this specific test type? Are you finding it difficult to adapt your language to ensure the interpretation is sensitive and clinically appropriate? 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 interpreting these sensitive results e.g., successfully focusing on objective interpretation while clearly documenting the need for subsequent clinical counselling.
• What are you learning as a result of the unexpected development? For example, are you gaining crucial insight into the legal and ethical nuances associated with reporting predictive testing results, or mastering the specific communication requirements needed for different test types (carrier vs. confirmation)?

On action

What happened?

• Begin by summarising the key points of the experience. Detail the specific types of testing (predictive, carrier, or confirmation) involved in the cases you considered and the key results you interpreted.
• Describe the specific clinical contexts e.g., late-onset disorder, complex family history, ethical implications that were particularly important for interpretation.
• Did you notice anything surprising or different from what you anticipated during the interpretation, and include any ‘reflect-in-action’ moments where you adapted your approach?

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 interpreting results for predictive, carrier, or confirmation testing?
• What did you learn about the specific considerations (e.g., ethical implications, consent, counselling needs) necessary for interpreting these types of results?
• How does this experience relate to your understanding of the implications of results for family members?
• Did you find it difficult to adapt your approach based on the specific test type or outcome?

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 analyse and interpret the results in this activity.
• How will you ensure that you appropriately consider the clinical and ethical context when interpreting these results in the future? What will you do differently next time, perhaps ensuring consultation with clinical staff regarding predictive findings?
• What areas for continued development have been identified in your interpretation and reporting of predictive, carrier, or confirmation testing results?
• What resources or support e.g., consultation with clinical geneticists, guidelines on predictive testing might you need to further develop in this area?

Beyond action

Have you revisited the experiences?

• Revisit your initial analyses and interpretations for predictive, carrier, or confirmation testing. Evaluate and re-evaluate your process and reasoning, particularly concerning communication and ethical considerations.
• Compare your current understanding and approach to interpreting these specific types of tests with your initial experience. How has your understanding of the importance of counselling or distinguishing diagnostic vs. predictive requests evolved?
• Have discussions (e.g., in MDTs) or clinical experiences highlighting the clinical implications or ethical considerations related to these tests provided new insights into your interpretation?
• Engage in professional storytelling with peers, near peers, or colleagues about the ethical complexities involved in reporting these test results. Has discussing these experiences led to a transformation in your perspective?

How have these experiences impacted upon current practice?

• How has gaining more experience with predictive, carrier, and confirmation testing influenced your understanding of the nuances involved, such as the importance of counselling or the need to consult national guidelines for predictive testing?
• How do you apply the interpretation skills developed through this activity (e.g., careful phrasing of interpretations) to other areas of genetic testing in your current role?
• How does the accumulated learning from this activity support your preparation for observed ‘in-person’ assessments, such as Case-Based Discussions where the implications of a predictive test result might be explored?
• As genomic testing becomes more integrated into patient care pathways, how will your foundational skills in interpreting predictive, carrier, and confirmation tests prepare you for future developments and applications in these areas (e.g., polygenic risk scores)?
• What steps will you take to deepen your understanding of the ethical and legal considerations associated with these specific test types?

Relevant learning outcomes

#	Outcome
# 2	Outcome Perform molecular analysis for patients referred with adult-onset disorders.
# 4	Outcome Interpret genomic variants, including copy number and structural changes and investigate the clinical significance of variants using bioinformatic tools using best practice guidelines.