Training activity information
Details
Select the correct genetic test(s) for the patient samples referred for prenatal testing referral reasons, to include:
- Increased screening risk
- Abnormal scan
- Familial testing
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
- Sample acceptance criteria
- Specific considerations for different prenatal samples, including sampling methods, gestational age, technical and analytical limitations
- Sample storage
- Reason for referral
- Testing pathways
- Local SOPs
- Health and safety
- Consent process
- Test specific ethical issues
- Onward referrals
- The role of multidisciplinary teams in the prenatal investigations following a familial history of genetic conditions
- The suitability of NIPD dependent on family structure, the genetic condition and the variant being investigated
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 expected of you in relation to selecting the correct genetic test(s) for prenatal referrals.
- Consider how the learning outcomes apply, specifically concerning applying appropriate testing strategies to patients referred for increased screening risk, abnormal ultrasound scan findings, and with a family history of a genetic disorder.
- What does successful test selection look like in this context, considering the limitations of different methodologies e.g., NIPT versus invasive testing or microarray versus QFPCR?
- Discuss with your training officer to gain clarity on expectations for selecting appropriate testing strategies.
What is your prior experience of this activity?
- Think about what you already know about selecting prenatal genetic tests based on different referral reasons (increased risk, abnormal scan, familial testing).
- Consider possible challenges you might face during the activity, and think about how you might handle them e.g., dealing with complex referral information, ambiguity in clinical details, or choosing between different testing methodologies or invasive/non-invasive strategies.
- 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, e.g., with unusual referral types or complex familial histories.
- Acknowledge how you feel about embarking on this training activity, given the sensitive nature of prenatal testing.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop – drawing upon previous experiences of similar activities, e.g., applying knowledge of different referral reasons to guide test selection.
- Identify specific insights you hope to gain from engaging with the activity, e.g., a deeper understanding of the rationale behind choosing specific tests like QFPCR, microarray, NIPT/NIPD, targeted molecular tests for different indications and how the maternity clinical care pathway influences test selection.
What additional considerations do you need to make?
- Consult actions identified following previous experience of selecting tests or handling prenatal cases.
- Identify important information you need to consider before embarking on the activity, e.g., reviewing relevant national or local guidelines for prenatal testing, understanding the limitations of different tests such as mosaicism or maternal cell contamination, and ensuring all necessary clinical information is available from the referral.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate whilst selecting the correct genetic test(s) for this prenatal referral?
- Are you encountering situations such as:
- The clinical information being ambiguous or highly incomplete e.g., an abnormal scan finding lacks specific detail, requiring you to rely on a generalised testing algorithm rather than a targeted plan.
- A complex referral requiring an immediate decision between seemingly equivalent testing strategies e.g., selecting between QFPCR, microarray analysis, or NIPT for a specific indication.
- You are realising that the most appropriate test falls outside local policy or immediate laboratory capability.
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 selection?
- Consider the steps you are taking in the moment, such as:
- Immediately consulting testing algorithms, protocols e.g., referencing national guidelines for screen positive results to narrow down the options based on incomplete data.
- Seeking immediate advice from a senior colleague or training officer to ensure the test selection is appropriate given the complexity of the phenotype or the lack of clarity in the referral.
- Are you adapting your test selection e.g., opting for a tiered testing approach or modifying the test methodology to remain within the scope of available resources and laboratory capabilities.
- How are you feeling in that moment? For instance, are you finding it difficult to adapt your knowledge of testing strategies? Is it affecting your confidence in deciding which specific tests (e.g., karyotyping vs. microarray) are appropriate?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice. For example, are you successfully managing the situation yourself e.g., justifying test selection based on limited data and consulting internal policies? Or are you needing support because the complexity or uncertainty of the case is beyond your current scope e.g., requirement for a non-routine test type?
- What are you learning as a result of the unexpected development? For example, are you learning a more effective technique for justifying test selection when clinical information is limited, or gaining insight into the necessity of correlating scan findings with test rationale?
On action
What happened?
- Begin by summarising the key points of the experience of selecting the correct genetic test(s) for prenatal referrals, e.g., the key referral reasons considered increased screening risk, abnormal scan, or familial history.
- Consider specific events, actions, or interactions which felt important during the test selection process, such as reviewing complex familial history or critical clinical details that significantly influenced your choice.
- Include any ‘reflect-in-action’ moments, where you adapted to the situation as it unfolded, for instance, adjusting your initial test selection plan due to unexpected patient or clinical information. How did you feel during this experience?
How has this experience contributed to your developing practice?
- Identify what learning you can take from this experience regarding appropriate prenatal genetic testing strategies, e.g., improving your understanding of the indications for different prenatal tests (like microarray versus NIPT).
- What strengths did you demonstrate e.g., efficient application of appropriate testing strategies based on referral reasons? What skills and/or knowledge gaps were evident e.g., unfamiliarity with specific test indications or limitations?
- Compare this experience against previous test selection activities – were any previously identified actions for development achieved? Has your practice in test selection improved?
- Identify any challenges you experienced, e.g., dealing with ambiguous referral information or deciding between invasive and non-invasive strategies, and how you reacted to these. Were you able to overcome the challenges?
- Identify anything significant about the activity, such as needing to seek advice or clarification on the appropriateness of a non-standard test for an abnormal scan referral, to ensure you were working within your scope of practice.
- Acknowledge any changes in your own feelings now you are looking back on the experience.
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, e.g., routinely reviewing national guidelines for screen positive results.
- What will you do differently next time you select prenatal genetic tests, e.g., ensuring you always consider the limitations of NIPT before selecting it? Has anything changed in terms of what you would do if you were faced with a similar situation again?
- Do you need to practise any aspect of the activity further, e.g., exploring specific referral criteria or test limitations further, such as mosaicism?
Beyond action
Have you revisited the experiences?
- Have you reviewed your actions from your previous reflections for this activity? What specific actions did you previously identify you would need to take to improve your practice related to applying appropriate testing strategies?
- Have you completed these previously identified actions? For example, if you planned to review the specific indications for microarray versus karyotyping for abnormal scan referrals, how did completing this review impact your subsequent performance of test selection?
- Engage in professional storytelling with peers, near peers, or colleagues about challenges and successes in test selection. How has discussing difficult decisions e.g., choosing between non-invasive prenatal testing (NIPT) and invasive testing changed your perspective or approach?
- Compare these experiences with those from other training activities or modules (e.g., Paediatric Genomics S-G-S1). What observable practices (e.g., systematically reviewing clinical criteria) have you assimilated into your own practice from selecting tests for increased screening risk cases?
How have these experiences impacted upon current practice?
- Consider how the accumulated learning from performing or reflecting on selecting genetic tests will support you in preparing for observed ‘in-person’ assessments for the module, such as the DOPS titled ‘Identify if a referral is appropriate for the testing required’.
- How has your practice in applying appropriate testing strategies developed and evolved over time? For example, how does your understanding of the maternity clinical care pathway, potentially gained from participating in service delivery, influence your current decision-making e.g., prioritising rapid QFPCR over slower comprehensive testing when time is critical?
- What transferable skills e.g., clinical reasoning, diagnostic planning did you develop through this activity, and how has this foundational knowledge (selecting tests based on specific criteria) informed decisions or problem-solving in other areas of genomics, perhaps outside of prenatal?
- Considering future advancements in prenatal genetic testing (e.g., new NIPT applications), how will the principles learned here help you adapt to new technologies and algorithms for test selection? What continued development actions (e.g., staying current on NIPT guidelines) have you identified to stay current in this area?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Apply appropriate testing strategies to patients referred for increased screening risk. |
| # 2 |
Outcome
Apply appropriate testing strategies to patients referred following abnormal ultrasound scan findings. |