Training activity information
Details
Discuss with patients or other health professionals the challenges of risk prediction in multifactorial disease
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 application of genomic screening for risk prediction in the NHS
- Polygenic risk scores
- Environmental factors
- Variable expression and non-penetrance
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 effectively articulating the nature of multifactorial disease causation and the challenges of predicting outcome in these cases.
- Discuss with your training officer to gain clarity of what is expected of you in relation to balancing the presentation of challenges with providing practical, clinically useful risk information.
What is your prior experience of this activity?
- Think about what you already know about discussing concepts of risk or probability with patients or colleagues, and your understanding of the genetic and environmental contributions to multifactorial diseases.
- Consider possible challenges you might face during the activity, such as simplifying complex risk models or managing confusion arising from discussing uncertainty.
- 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. You will need to seek advice from your Training Officer when required, for example, if the patient remains highly anxious.
- Acknowledge how you feel about explaining the complexities and limitations of risk prediction for these conditions.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop, such as using specific examples of multifactorial diseases to illustrate the challenges of risk prediction, and how you can support patients with the resulting uncertainty.
- Identify the specific insights you hope to gain into common misunderstandings or questions patients/professionals have about multifactorial risk.
What additional considerations do you need to make?
- Consider your previous experiences of risk communication with patients or colleagues.
- Consider the specific multifactorial conditions or risk prediction tools relevant to the discussion, and how to balance explaining the challenges with providing practical risk information that is still clinically useful.
- Reflect on how patients may feel about multifactorial risk, as opposed to monogenic or more predictable conditions.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate whilst discussing the challenges of risk prediction for multifactorial disease?
- Are you encountering situations such as:
- The patient’s/professional’s experience of a condition makes it hard for them to accept the explanation you are providing. For example, a patient who has lost multiple family members to unrelated types of cancer and has believed that they must have ‘a cancer gene’.
- The patient/professional raises complex queries about statistical modelling (e.g., Polygenic Risk Scores) that challenge your knowledge base?
How are you reacting to the unexpected development?
- How is this impacting your actions? For example, are adapting your approach to acknowledge and validate the person’s lived experience, before offering to explain the inheritance for this condition with appropriate examples or resources.
- your explanation of multifactorial inheritance, providing specific examples of risk factors, or addressing misconceptions about predictability?
- Consider the steps you are taking in the moment, such as reframing the lack of a certain genetic cause to focus on actionable lifestyle changes.
- 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 discuss the challenges of risk prediction in multifactorial disease in a way that supported a new level of understanding? What are you learning as a result of the unexpected development?
On action
What happened?
- Begin by summarising the key steps you took to prepare and explain the challenges of risk prediction in this context.
- Consider specific events, actions, or interactions which felt important, such as patient/professional raising a misconception about genetic determinism, or, expressing an emotional response to the new information about their risk level.
- Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, using a simplified, relatable analogy, or linking your explanation to the patient/professional’s own experiences.
- How did you feel during this experience, e.g., did you feel confident in the topic but challenged by addressing deep-seated misconceptions about risk and causality?
How has this experience contributed to your developing practice?
- Identify what learning you can take from this experience regarding discussing risk in multifactorial disease. What strengths did you demonstrate, e.g., explaining the nature of polygenic risk scores?
- What skills and/or knowledge gaps were evident, e.g., difficulty translating complex quantitative risk data into clinically useful information?
- Compare this experience against previous engagement with similar activities has your practice improved in managing patient anxiety about uncertain risk information?
- 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 your discussion of multifactorial risk challenges.
- What will you do differently next time you approach discussing multifactorial risk?
- Do you need to practise any aspect of the activity further, such as tailoring quantitative risk discussions for different audiences or key learning outcomes related to understanding multifactorial inheritance?
Beyond action
Have you revisited the experiences?
- How have your subsequent experiences of discussing multifactorial risk prediction since completing this specific training activity led you to revisit your initial approach or decisions during that activity? For example, new evidence or guidelines regarding incorporation of SNP scoring into risk assessment models.
- Considering what you understand about communicating uncertainty, addressing genetic determinism, and preparing for predictive testing now, how have you since made improvements in your multifactorial risk discussion technique? Has discussing patient misconceptions about inherited risk with colleagues, peers, or supervisors changed how you now view your initial experience in this training activity? For example, hearing a senior colleague talk about a patient who misunderstood a low PRS score as removing her need for population screening.
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 explaining multifactorial risk with patients and professionals? How has reflecting back on this specific training activity, combined with everything you’ve learned since, shaped your current approach?
- Looking holistically at your training journey, how has this initial multifactorial risk discussion experience, revisited with your current perspective, contributed to your development in meeting the learning outcomes related to counselling skills and identifying referrals? For example, how this foundational experience has supported your development in communicating uncertainty in common conditions and enhancing overall counselling skills.
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 |
Outcome
Discuss rare and complex genetic and genomic conditions with patients, tailoring communication to ensure the needs of the patient are met. |
| # 4 |
Outcome
Compare the benefits and limitations of genomic screening for risk prediction and advise on their application/use in practice. |