Training activity information
Details
In a consultation, using language appropriate for patients, describe how genomic variants may be interpreted, as well as the challenges and limitations of this process
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.
Considerations
- Current sequencing approaches
- Alignment of sequence to the reference genome
- Calling and annotating of sequence variants, including variant classification
- Filtering strategies to identify pathogenic mutations in sequencing data
- Family studies to support variant interpretation
- Approaches to determining pathogenicity of variants (population frequency, conservation of sequence, association with disease in established datasets, in silico tools and functional data)
- Use of databases
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?
- Consider how the learning outcomes apply, specifically in relation to ensuring the patient understands the inherent challenges and limitations of genomic variant interpretation.
- Discuss with your training officer to gain clarity of what is expected of you in relation to the appropriate level of detail and lay terminology for explaining variant classification and uncertainty (e.g., Variants of Uncertain Significance, potential for reclassification).
What is your prior experience of this activity?
- Think about what you already know about explaining complex scientific concepts, such as variant interpretation, to lay audiences.
- Consider possible challenges you might face during the activity, such as communicating the complexities, uncertainties (like VUS), and limitations of genetic testing without causing undue anxiety.
- 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.
- Acknowledge how you feel about explaining variant interpretation and its challenges in a patient consultation.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop, such as using specific analogies, examples, or communication techniques to explain variant interpretation clearly.
- Identify the specific insights you hope to gain into common patient misconceptions or areas of confusion regarding variant interpretation.
What additional considerations do you need to make?
- Consider your previous experiences of communicating uncertainty or complex genomic concepts.
- Consider how you will balance transparency about the limitations of variant interpretation with ensuring patients feel they can rely on their genetic assessment. Think about how you can offer appropriate reassurance and context for the likelihood of different outcomes.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate whilst describing genomic variant interpretation, challenges, and limitations to a patient?
- Are you encountering situations such as:
- The patient’s questions about variant classification, their reaction to the concept of uncertainty/limitations, or their understanding of complex terms differing from what you anticipated?
How are you reacting to the unexpected development?
- How is this impacting your actions? For example, are you changing your approach to focus on the patient’s concerns?
- Consider the steps you are taking in the moment, such as checking back the patient’s understanding or using a simplified metaphor to describe the classification process.
- How are you feeling in that moment?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice. For example, were you able to describe variant interpretation, its challenges, and limitations using appropriate language?
- What are you learning as a result of the unexpected development? For example, are you learning about patient perceptions of testing?
On action
What happened?
- Begin by summarising the key steps you took when explaining the process of genomic variant interpretation and its associated challenges/limitations to the patient.
- Consider specific events, actions, or interactions which felt important, such as the moment a patient expressed confusion, or, when you found a metaphor or aid that helped them.
- Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded. How did you feel during this experience, e.g., did you feel confident in working out what level of information was helpful for your patient?
How has this experience contributed to your developing practice?
- Identify what learning you can take from this experience. What strengths did you demonstrate, e.g., transparent discussion of test limitations and effective use of lay terminology?
- What skills and/or knowledge gaps were evident, e.g., difficulty explaining the implications of potential future reclassification (dynamic interpretation)?
- Compare this experience against previous activities has your practice improved in discussing uncertainty related to genomic findings?
- Identify any challenges you experienced.
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 communication about genomic variant interpretation.
- What will you do differently next time you approach explaining variant interpretation?
- Do you need to practise any aspect of the activity further, such as refining lay terminology for different variant classifications, or practicing check-back techniques to confirm understanding?
Beyond action
Have you revisited the experiences?
- How have your subsequent experiences led you to revisit your initial approach or decisions during the activity? For example, a subsequent reclassification case may have prompted you to re-evaluate which patients you discuss variant classification with, or in what depth.
- Considering what you understand about simplifying complex concepts, preparing patients for VUS outcomes, and discussing limitations, how have you subsequently improved your variant interpretation communication? For example, how you proactively reviewed and rehearsed a standardised set of lay-term explanations for VUS and benign findings.
- Has discussing patient confusion regarding VUS or the impact of unclear explanations with colleagues, peers, or supervisors changed how you now view your initial experience in this training activity?
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 ability in simplifying complex variant classification terminology and communicating these concepts to patients?
- Looking holistically at your training journey, how has this initial variant interpretation explanation experience, revisited with your current perspective, contributed to your development in meeting the learning outcomes related to communication and ethical practice?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Apply counselling skills to lead consultations involving genomic testing in complex scenarios. |
| # 3 |
Outcome
Discuss rare and complex genetic and genomic conditions with patients, tailoring communication to ensure the needs of the patient are met. |