Applied Genomics and Bioinformatics in Advanced Clinical Care —
Training activity: 10

Details

Provide advanced genetic counselling input for the management of genomic test results in the reproductive 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

• The specific challenges relating to genomics in the fetal medicine clinic
• Diagnostic challenges of prenatal tests and the contribution of antenatal scanning, NIPT and invasive prenatal diagnosis (CVS, amniocentesis and fetal blood sampling)
• Variants of uncertain significance and incidental findings and influence on pre/ante-natal management
• Communicating uncertain information

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 individual(s) understand the implications of the results for future pregnancies and reproductive options.
• Discuss with your training officer to gain clarity of what is expected of you in relation to applying specific ethical guidelines and managing the discussion of complex reproductive options (e.g., PGT, prenatal testing, termination).

What is your prior experience of this activity?

• Think about what you already know about providing genetic counselling in a reproductive setting and discussing genomic results.
• Consider possible challenges you might face during the activity, such as navigating reproductive decision-making when results are complex, or managing emotional reactions to potential risks for future pregnancies.
• 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 couple presents with significant distress, complexity around test options, or an ethical conflict regarding reproductive choices
• Acknowledge how you feel about providing advanced counselling on genomic results in this sensitive context.

What do you anticipate you will learn from the experience?

• Consider the specific skills you want to develop, such as counselling skills and knowledge application related to specific reproductive options (e.g., prenatal testing, PGT, NIPD, carrier screening, termination options).
• Identify the specific insights you hope to gain into supporting individuals/couples in making complex reproductive decisions based on genomic information.

What additional considerations do you need to make?

• Consider the specific reproductive options relevant to the genomic test being discussed, and any ethical considerations that might be important.
• Consider how you might tailor your approach to meet the needs of your patient/s, including those with an existing health condition, distressing family history, or a social situation that requires additional support.
• Notice how you feel about discussing these sensitive topics, including any areas that feel less comfortable to talk about. Think about how you might invite patients to discuss these topics in a collaborative and consent-based manner.

In action

Is anything unexpected occurring?

• Are you noticing anything surprising or different from what you anticipate whilst providing advanced genetic counselling regarding reproductive management of genomic results?
• Are you encountering situations such as:
  • The patient’s/couple’s concerns about future pregnancies, their risk perception, their alignment regarding reproductive options, or their emotional response to the results present an unanticipated challenge?
  • New medical information has become available, such as a health condition in a pregnant patient, or a high risk screening result that was not the reason for referral?

How are you reacting to the unexpected development?

• How is this impacting your actions? For example, are you seeking advice or adapting your management plan to account for the new medical information. Consider the steps you are taking in the moment, such as employing non-directive counselling skills to explore conflicting values between a couple or providing reassurance while assessing the need for additional support.
• How are you feeling in that moment? For instance, are you unsure how best to manage the dynamic, or do you feel well equipped to adapt your plan according to new information?

What is the conclusion or outcome?

• Identify how you are working within your scope of practice. For example, were you able to provide effective genetic counselling input and support your patient to identify the right test options for their situation and values? Are you needing support because an ethical conflict or complex medical situation requires consultation with a senior colleague or external expert?
• What are you learning as a result of the unexpected development? For example, are you learning about handling couple dynamics in session, or how to explain the ethical guidelines that apply to reproductive testing and termination?

On action

What happened?

• Begin by summarising the key steps you took, including how you determined appropriate care options and conveyed them to patients.
• Consider specific events, actions, or interactions which felt important, such as moments of distress, conflict, or times you were able to encourage your patient’s autonomy.
• Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, pausing the discussion of medical details and shifting focus to explore the underlying personal values that informed your patient’s choices.
• How did you feel during this experience, e.g., did you feel acutely aware of the sensitivity but challenged by managing the high-stakes decision-making dynamics?

How has this experience contributed to your developing practice?

• Identify what learning you can take from this experience regarding reproductive genetic counselling. What strengths did you demonstrate, e.g., sensitivity in discussing management options and supporting shared decision-making?
• What skills and/or knowledge gaps were evident, e.g., unfamiliarity with requesting a specific test, complex ethical consideration or knowing how to bring up termination options?
• Compare this experience against previous engagement with similar activities, has your practice improved in addressing sensitive topics in a reproductive setting?
• 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 reproductive genetic counselling input.
• What will you do differently next time you approach counselling for reproductive genomic results, for instance, by proactively reviewing guidelines, or spending time with a fetal medicine service to learn more about the patient experience of prenatal testing?
• Do you need to practise any aspect of the activity further, such as role-playing managing couple conflict during decision-making, or key learning outcomes related to specific reproductive technologies?

Beyond action

Have you revisited the experiences?

• How have your subsequent experiences of providing advanced reproductive genetic counselling led you to revisit your initial approach or decisions during that activity? Have you adapted your reproductive management counselling?
• Has discussing complex ethical dilemmas in reproduction or the impact of emotional distress on decision-making 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 navigating this area of practice? For example, how your accumulated ability in navigating complex cases enables you to confidently support a couple through shared decision-making regarding PGT or prenatal testing.
• How has reflecting back on this specific training activity, combined with everything you’ve learned since, shaped your current approach to providing advanced genetic counselling input in the reproductive setting?
• 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 experience, revisited with your current perspective, contributed to your development in meeting the learning outcomes related to decision-making and ethical practice?

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.