Training activity information
Details
Select the correct genetic test(s) for a range of adult conditions, to include:
- NGS applied to an adult disorder e.g. familial hypercholesterolaemia, and CMT
- Triplet repeat neurological disorders e.g. Huntington’s disease, spinocerebellar ataxias, and Friedreich’s ataxia
- Chromosome analysis for infertility or recurrent miscarriage
- Molecular analysis for infertility e.g. cystic fibrosis, FMR1 and POF
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.
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?
- You should identify what is expected of you in relation to selecting the correct genetic test(s) for the range of adult conditions listed.
- Review the relevant learning outcomes, specifically concerning applying appropriate testing strategies to patients referred for adult-onset disorders.
- Success means understanding what applying appropriate testing strategies looks like, considering the specific exemplars mentioned, such as selecting NGS for familial hypercholesterolaemia or distinguishing between chromosome analysis and molecular analysis for infertility referrals.
- Discuss this with your training officer to gain clarity on their expectations for your test selection process.
What is your prior experience of this activity?
- Think about what you already know about selecting genetic tests for adult conditions or any of the specific disorders or referral reasons listed.
- Consider possible challenges you might face, such as interpreting complex referral information or navigating different testing options (e.g., distinguishing when NGS versus triplet repeat testing is appropriate for a neurological disorder), and plan how you might handle these.
- You must recognise the scope of your own practice for this activity, knowing when you need to seek advice or help regarding test selection for specific complex cases, and from whom (e.g., a senior scientist or clinical geneticist).
- You should also acknowledge how you feel about embarking on selecting tests for this diverse range of adult conditions.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop, drawing upon previous experiences (if any). For instance, you might aim to improve your ability to match the correct test methodology to the clinical presentation or referral reason.
- Identify the specific insights you hope to gain from engaging with this activity, perhaps a deeper understanding of the rationale behind selecting specific tests like triplet repeat analysis or chromosome analysis for particular adult indications.
What additional considerations do you need to make?
- Consult any actions you identified following previous experiences, perhaps from prior test selection activities in this or other modules.
- Identify important information you need to consider before embarking on the activity. This might include reviewing relevant laboratory protocols, national guidelines for testing specific adult conditions (e.g., familial hypercholesterolaemia, Huntington’s).
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate while selecting the genetic test(s) for this adult referral?
- Are you encountering situations such as:
- The clinical referral information being ambiguous or highly incomplete regarding the family history, making the appropriate test (e.g., diagnostic vs. predictive) unclear?
- The patient’s presentation requiring a tiered testing approach, leading to a sudden difficulty in deciding between a broad NGS panel and a targeted molecular test?
- Unexpected constraints arising, such as conflicting local policies or guidelines regarding the use of NGS for conditions like familial hypercholesterolaemia, requiring immediate judgment?
- How is this experience comparing with previous experiences of similar activities, such as taking histories in other settings?
How are you reacting to the unexpected development?
- How is this impacting your actions? Did you adapt or change your approach to the selection process in the moment?
- Consider the steps you are taking in the moment, such as:
- Immediately consulting national guidelines or relevant testing algorithms to resolve ambiguity regarding specific conditions like familial hypercholesterolaemia or triplet repeat disorders.
- Modifying your thinking process to consider alternative testing strategies (e.g., sequential testing) if the initial clinical picture is unclear.
- Seeking immediate support or guidance from a senior colleague or clinical scientist regarding the most appropriate test selection for a specific complex case.
- How are you feeling in that moment? For instance, are you finding it difficult to adapt your knowledge of testing criteria to the real-time constraints of the referral? Is it affecting your confidence in justifying the chosen test type (e.g., chromosome analysis vs. molecular analysis for infertility referrals)? Do you feel positive you can reach a successful conclusion?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice when selecting the test (e.g., successfully prioritising clinical urgency while escalating uncertainty regarding diagnosis).
- What are you learning as a result of the unexpected development? For example, are you learning a more effective technique for quickly cross-referencing clinical guidelines with referral symptoms, or gaining crucial insight into the hierarchy of test selection for complex adult neurological disorders?
On action
What happened?
- Begin by summarising the key points of the experience, identifying the key referral reasons for the cases considered e.g., familial hypercholesterolaemia, Huntington’s disease, or infertility.
- Detail the range of genetic tests e.g., NGS, triplet repeat analysis, chromosome analysis, molecular analysis you selected or considered for these specific cases.
- Describe any specific clinical details or guidelines that significantly influenced your test selection for each case.
- Include any ‘reflect-in-action’ moments where you had to adjust your thinking during the process of selecting tests, for instance, immediately switching from a panel approach to a targeted test based on new family history information.
How has this experience contributed to your developing practice?
- Identify what learning you can take from this experience regarding selecting genetic tests. What skills or knowledge did you develop or improve regarding selecting appropriate testing strategies for adult-onset disorders or infertility referrals?
- Detail any unexpected challenges or successes encountered during the test selection process e.g., dealing with ambiguous clinical information or navigating multiple test options. How did you react to these challenges, and were you able to overcome them?
- Compare this experience against previous instances where you selected genetic tests for adult conditions. Was your previous identified action for development achieved? Has your practice improved?
- Acknowledge anything significant about the activity, such as whether you needed to seek advice or clarification regarding a specific test choice or guideline application.
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 learned, including incorporating any feedback received about your ability to select correct genetic tests for a range of adult conditions.
- What will you do differently next time you are faced with similar referrals, for instance, ensuring initial review includes national testing criteria for specific conditions like familial hypercholesterolaemia?
- What resources (e.g., guidelines, colleagues) might you need to consult in the future to ensure appropriate test selection, particularly for complex referral types?
Beyond action
Have you revisited the experiences?
- Considering your experience since undertaking this activity, revisit your initial decisions on test selection and evaluate and re-evaluate why you selected certain tests at that time.
- Compare your approach to test selection now with how you initially approached it in this activity. What observable behaviours or practices have you assimilated into your process e.g., consistently cross-referencing national guidelines for NGS vs. triplet repeat testing? Have you completed the actions identified in previous reflections to improve your practice?
- Have discussions with colleagues, supervisors, or participation in clinical experiences like MDTs or clinics provided insights that have changed your view on optimal test selection strategies for these or similar conditions?
- Engage in professional storytelling with peers, near peers, or colleagues about challenges and successes in test selection for complex adult conditions. Has discussing these experiences changed your perspective or approach?
How have these experiences impacted upon current practice?
- How has your understanding of the clinical context for these conditions (e.g., adult-onset neurological disorders, infertility), potentially gained from clinical experiences, influenced your current approach to selecting appropriate genomic testing strategies?
- Can you identify any instances in your current practice where the foundational knowledge and principles learned from selecting genetic tests in this activity have informed your decisions or problem-solving for other referrals (e.g., applying the principles of tiered testing to a novel referral type)?
- How has this experience contributed to your ability to apply appropriate testing strategies more generally?
- How does the accumulated learning from this activity support your preparation for observed ‘in-person’ assessments for the module, such as a DOPS titled ‘Identify if a referral is appropriate for the testing required’?
- Considering future advancements in genetic testing technologies and guidelines for adult genomics, how will the principles learned in this activity help you adapt to evaluating and selecting new approaches e.g., selecting between new sequencing platforms?
- What ongoing actions will you take to stay updated on the evolving landscape of genetic testing for adult conditions and refine your test selection skills?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Apply appropriate testing strategies to patients referred for adult-onset disorders. |