Training activity information
Details
Prepare and deliver trainee led advanced genetic counselling for complex genomic testing within a range of subspecialties
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
- Large panels, exomes and genomes
- Impact of genomics results on patient management and treatment, including potential research and trials
- Use and limits of genomic technologies
- Incidental findings
- Variants of uncertain significance and approaches to interpretation
- Consent
- Data sharing and inclusion of data in research
- Professional responsibilities of medical colleagues and genetic counsellors and limitations of practice
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 needed to successfully support patients through complex genomic testing, ensuring their medical, informational and psychosocial needs are met.
- Consider how the learning outcomes apply, ensuring your counselling effectively addresses the specifics of this case or condition.
- Discuss with your training officer to gain clarity regarding the depth and expertise required and when to work with other experts or colleagues.
What is your prior experience of this activity?
- Think about what you already know about providing genetic counselling for complex cases or within these subspecialties.
- Consider possible challenges you might face during the activity, such as delivering counselling on highly technical genomic tests, or where management is complex.
- 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. For example, if the results require further interpretation by a clinical geneticist, or there is an unexpected finding.
- Acknowledge how you feel about leading advanced genetic counselling sessions for these areas.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop, such as specific counselling techniques, knowledge about a condition or subspecialty.
- Identify the specific insights you hope to gain into effectively translating complex genomic information for patients in a subspecialty context.
What additional considerations do you need to make?
- Consider your previous experiences of delivering complex or specialised counselling.
- Identify what you need to consider before embarking on the activity, such as in-depth information about the specific genomic test, the conditions it covers, limitations or unique considerations/patient populations within this subspecialty.
- Consider how you can use teaching/learning theory to break down information into ways your patient can process. Ensure you account for factors such as stress, anxiety and any access needs.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate whilst preparing or delivering the advanced genetic counselling session for complex testing?
- Are you encountering situations such as:
- The patient’s prior knowledge, questions, emotional response, or the complexity of the information presenting a challenge you didn’t foresee?
- The patient asks highly technical questions about the genomic assay methodology that challenges your preparation?
How are you reacting to the unexpected development?
- How is this impacting your actions? For example, are you adapting or changing your approach to focus on the patient’s emotional state?
- Consider the steps you are taking in the moment, such as asking your patient how they best process information, and offering different explanations in a manner that supports their learning style.
- How are you feeling in that moment? For instance, are you finding it difficult to communicate the information in an accessible way?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice. For example, were you able to prepare and deliver the session so that your patient feels confident in making an informed choice?
- What are you learning as a result of the unexpected development?
On action
What happened?
- Begin by summarising the key steps you took when preparing for this consultation.
- Consider specific events, actions, or interactions which felt important, such as how you chose to explain the test and the patient’s reaction to this.
- Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, adapting your explanation to incorporate visual aids when the patient expressed confusion.
- How did you feel during this experience, e.g., did you feel confident in adapting your communication style but challenged by the technical complexity?
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., taking a patient-centred approach to communicating complex test information?
- What skills and/or knowledge gaps were evident, e.g., difficulty titrating information about multiple possible outcomes?
- Compare this experience against previous engagement with similar activities. Has your practice improved in communicating complex information? Identify any challenges you experienced, such as needing to seek advice or clarification to answer your patient’s questions.
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 your preparation and delivery of advanced genetic counselling.
- What will you do differently next time you approach counselling for complex testing, for instance, by preparing tiered explanations of genomic variants tailored for different patient learning styles?
- Do you need to practise any aspect of the activity further, such as refining communication techniques?
Beyond action
Have you revisited the experiences?
- How have your subsequent experiences of delivering advanced genetic counselling led you to revisit your initial approach? For example, a subsequent session involving highly complex neurogenomic results may have prompted you to re-evaluate the technical depth of your preparation and communication strategies for highly technical findings during your first attempt at this training activity.
- Considering what you understand about tailoring complex communication, synthesising diverse information, and managing anxiety related to uncertainty now, how have you subsequently adapted your practice?
- Has discussing challenges in explaining complexity, or the impact of poorly tailored information on patient comprehension, 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 tailoring communication for complex conditions?
- How has reflecting back on this specific training activity, combined with everything you’ve learned since, shaped your current approach to preparing and delivering advanced genetic counselling?
- Looking holistically at your training journey, how has this initial advanced genetic counselling experience, revisited with your current perspective, contributed to your development in meeting the learning outcomes related to decision-making and communication?
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. |