Training activity information
Details
Work alongside medical colleagues to facilitate genomic testing within the diagnostic pathway, in a range of rare and complex conditions, to include:
- Pre-test counselling
- Consent discussion and recording
- Follow up
- Support following diagnosis in a mainstream setting
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
- Impact of genomics results on patient management and treatment, including potential research and trials
- Single gene, panel, targeted or open whole genome approaches in these settings
- 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?
- Work with your medical colleagues to establish what is expected of you at each stage of the pathway: pre-test counselling, consent, follow up, support. Consider how the learning outcomes apply, specifically in relation to ensuring effective collaboration and clear communication with your medical colleagues throughout the process.
- Discuss with your training officer to gain clarity of local processes to ensure a well-integrated and patient-centred approach to genomic testing within rare disease pathways.
What is your prior experience of this activity?
- Think about what you already know about pre-test counselling, obtaining consent, providing follow-up, or delivering support after a diagnosis.
- Consider possible challenges you might face during the activity, such as the logistical issues of coordinating multiple steps between two or more parties, maintaining clear communication within a multidisciplinary team (MDT), or managing complex patient care pathways.
- Recognise the scope of your own practice for this activity and clarify which tasks you are taking ownership of, as well as which will be handled by colleagues. Acknowledge how you feel about taking on these collaborative responsibilities and communicating with medical colleagues, in what may be a less familiar pathway or condition.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop, focusing on skills related to multidisciplinary collaboration.
- Identify the specific insights you hope to gain into the practical application of genomic testing within mainstream clinical settings or the dynamics of multidisciplinary working.
What additional considerations do you need to make?
- Consider your previous experiences of facilitating diagnostic pathways or working in multidisciplinary teams.
- Identify what knowledge you might need about specific conditions, tests or consent processes for this pathway.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate whilst facilitating genomic testing alongside medical colleagues?
- Are you encountering situations such as:
- A patient reaction, colleague’s approach, or the pathway differing from what you anticipated?
- The patient discloses a new piece of medical or psychosocial history that challenges the plan you made with your medical colleagues?
How are you reacting to the unexpected development?
- How is this impacting your actions? For example, are you adapting your approach to document the development and explaining the need for further discussion?
- Consider the steps you are taking in the moment, such as adapting your explanation to address a patient’s unexpected reaction or seeking advice from colleagues before proceeding.
- How are you feeling in that moment? For instance, are you feeling supported, or finding it difficult to ask questions to clarify a situation?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice. For example, were you able to work effectively alongside medical colleagues and facilitate testing? Or are you needing support to navigate an issue or pathway?
- What are you learning as a result of the unexpected development?
On action
What happened?
- Begin by summarising the key steps you took when facilitating genomic testing within this pathway.
- Consider specific events, actions, or interactions which felt important, such as a key interaction where you engaged with medical colleagues to support patients with a combined counsellor/medic skillset.
- 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 the clinical topic but challenged by a lack of documentation from the original mainstream test process?
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., effective collaboration and clear communication?
- What skills and/or knowledge gaps were evident, e.g., unfamiliarity with the specific resources available in a mainstream clinical setting?
- Compare this experience against previous engagement with similar activities, has your practice improved in working in a multidisciplinary setting?
- Identify any challenges you experienced, such as needing to seek advice or clarification on any aspect of the process.
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 ability to work effectively within these pathways.
- What will you do differently next time for instance, by proactively establishing dedicated communication channels with mainstream medical colleagues?
- Do you need to practise any aspect of the activity further?
Beyond action
Have you revisited the experiences?
- How have your subsequent experiences led you to revisit your initial approach or decisions during that activity?
- Considering what you understand about multidisciplinary team effectiveness, legislative requirements for genomic consent, and post-diagnosis support, would you do anything differently? For example, proactively integrating specific checkpoints for validating the patient’s consent to share information if testing were performed elsewhere.
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 supporting patients through multidisciplinary pathways for diagnostic testing and integrating legislative requirements into genomic consent and contributing effectively to the diagnostic pathway? For example, how your accumulated ability to integrate legislative requirements into genomic consent and contribute effectively as part of a multidisciplinary team now enables you to confidently discuss patient support needs following a complex diagnosis.
- How has reflecting back on this specific training activity, combined with everything you’ve learned since, shaped your current approach to facilitating genomic testing in mainstream settings? How does this evolved understanding help you identify when something is beyond your scope of practice or requires escalation? For example, your evolved approach means you now routinely seek advice when complex psychosocial support following diagnosis or integration of legislative requirements into genomic consent falls outside routine scope or requires escalation to Clinical Governance or senior staff.
- Looking holistically at your training journey, how has this initial genomic pathway facilitation experience, revisited with your current perspective, contributed to your development in meeting the learning outcomes related to practice standards and contributing effectively as part of a multidisciplinary team? For example, how this foundational experience has supported your development in subsequent activities that require multidisciplinary input.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Apply counselling skills to lead consultations involving genomic testing in complex scenarios. |
| # 2 |
Outcome
Employ knowledge of patient pathways in a range of healthcare settings to contribute to the Genetic Counsellor’s expertise as part of a multidisciplinary team. |
| # 3 |
Outcome
Discuss rare and complex genetic and genomic conditions with patients, tailoring communication to ensure the needs of the patient are met. |