Applied Genetics and Genomics in Clinical Care —
Training activity: 5

Details

Discuss testing options, potential outcomes and implications with patients and order appropriate investigations across a breadth of conditions of less complex clinical situations, under supervision

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

• Informed consent
• Genetic tests available for different genetic conditions and clinical situations
• Procedure to order genetic tests
• The impact of genetic test results on patient care or the care pathway for different genetic conditions
• Risk, benefits and limitation of interventions
• Impact on patient care
• Population and new-born screening programmes

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 applying counselling skills, interpreting and eliciting appropriate history, and identifying opportunities for referral.
• Discuss what is expected of you in relation to facilitating this discussion and navigating testing decisions, including what makes an investigation order ‘appropriate and accurate’.

What is your prior experience of this activity?

• Think about what you already know about explaining different genetic tests, their potential results, and what those results might mean for the patient and family.
• Consider possible challenges you might face during the activity, such as explaining complex testing concepts (e.g., VUS or incidental findings) or helping patients navigate difficult decisions.
• 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 requires complex interpretation of the risks and benefits of a specific test or refuses testing despite strong clinical indication.
• Acknowledge how you feel about taking responsibility for discussing testing and initiating the ordering process under supervision.

What do you anticipate you will learn from the experience?

• Consider the specific skills you want to develop, such as interpreting and arranging investigations, and applying communication skills to discuss complex information (drawing upon previous experiences of the activity).
• Identify the specific insights you hope to gain into the practical aspects of testing pathways and supporting patient decision-making around testing.

What additional considerations do you need to make?

• Consult actions identified following previous experiences of discussions about testing or related activities.
• Identify important information you need to consider before embarking on the activity, such as specific information about the available tests, turnaround times, potential results (including VUS and incidental findings), and their implications for the particular condition.

In action

Is anything unexpected occurring?

• Are you noticing anything surprising or different from what you anticipate whilst discussing testing options or ordering investigations?
• Are you encountering situations such as:
  • The patient expresses unexpected views on testing or raises an unanticipated implication?

How are you reacting to the unexpected development?

• How is this impacting your actions? For example, are you responding to the situation appropriately? Are you adapting or changing your approach to your explanation of the testing options or addressing the patient’s concern in the moment?
• Consider the steps you are taking in the moment, such as: Immediately addressing the patient’s unanticipated implication with balanced information or seeking immediate input from your supervisor regarding the ordering issue.
• How are you feeling in that moment? For instance, are you finding it difficult to adjust your explanation of complex testing protocols quickly? Is it affecting your confidence in ordering the appropriate investigation accurately?

What is the conclusion or outcome?

• Identify how you are working within your scope of practice. For example, were you able to successfully navigate the discussion or order the appropriate investigation despite the unexpected issue? Or are you needing support because the complexity of the unanticipated implication requires further guidance?
• What are you learning as a result of the unexpected development?

On action

What happened?

• Begin by summarising the key steps you took when discussing testing options and ordering investigations.
• Consider specific events, actions, or interactions which felt important, such as the patient expressing specific concerns about the test implications.
• Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, changing the explanation of VUS when the patient showed difficulty in understanding.
• How did you feel during this experience, e.g., did you feel challenged by the explanation of potential results?

How has this experience contributed to your developing practice?

• Identify what learning you can take from this experience regarding discussing testing and ordering. What strengths did you demonstrate, e.g., clear explanation of test benefits and limitations?
• What skills and/or knowledge gaps were evident, e.g., unanticipated concerns related to incidental findings?
• Compare this experience against previous engagement with similar activities – were any previously identified actions for development achieved? Has your practice improved in clarifying complex information about testing outcomes?
• Identify any challenges you experienced, such as needing to seek advice or clarification on scope of practice regarding patient reluctance to consent due to fear of incidental findings, and how you reacted to this.

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.
• What will you do differently next time you discuss testing options with patients?
• Do you need to practise any aspect of the activity further, such as role-playing to applying communication skills?

Beyond action

Have you revisited the experiences?

• How have your subsequent experiences of discussing testing options, particularly regarding technical complexity or unexpected results since completing this specific training activity led you to revisit your initial approach or decisions during that activity? For example, how a subsequent interaction forced you to re-evaluate the clarity of your explanation of uncertainty and implications of testing during your first attempt at this training activity.
• Considering what you understand about uncertainty management and patient expectation management now, were the actions or considerations you identified after your initial reflection on this training activity sufficient?
• How have you since implemented or adapted improvements process based on further learning and experiences?
• Has discussing unforeseen issues with test options or patient distress changed how you now view your initial experience in this training activity? For example, how testing led to patient confusion and anxiety refined your understanding of the critical nature of accurate and clear test explanation.

How have these experiences impacted upon current practice?

• How has the learning from this initial training activity, in combination with subsequent testing discussion experiences, contributed to your overall confidence and ability in managing testing? For example, how your accumulated ability in explaining technical complexity and implications now enables you to confidently discuss testing options.
• How has reflecting back on this specific training activity, combined with everything you’ve learned since, shaped your current approach to discussing testing options and ordering appropriate investigations? How does this evolved understanding help you identify when something is beyond your scope of practice or requires escalation?
• Looking holistically at your training journey, how has this initial testing discussion and ordering experience, revisited with your current perspective, contributed to your development in meeting the learning outcomes related to interpreting and eliciting history and identifying referrals?

Relevant learning outcomes

#	Outcome
# 1	Outcome Plan, structure, deliver and appropriately document Genetic Counsellor consultations.
# 2	Outcome Arrange and interpret appropriate genetic investigations.
# 4	Outcome Apply communication skills and knowledge to provide genetic information to individuals and their families across a range of clinical situations being sensitive to patient information needs and the psychosocial and cultural context of the situation.