Training activity information
Details
Synthesise and critically analyse literature from reputable sources to compile information on the clinical presentation and course of a range of rare and/or complex inherited diseases and established clinical phenotypes, in readiness for consultations
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
- Literature sources for researching the natural history of rare diseases
- Critical analysis
- Genetic tests and test directories
- Local and national protocols
- Research projects and trials
- Patient management and treatment options
- Specialist clinics and onward referral
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 compiled information is directly applicable and suitable for use in clinical consultations.
- Discuss with your training officer to gain clarity of what is expected of you in relation to the required depth of critical appraisal and the format for compiling information for clinical use.
What is your prior experience of this activity?
- Think about what you already know about searching for, synthesising, and critically appraising scientific literature.
- Consider possible challenges you might face during the activity, such as limited information on rare conditions, or ensuring the information is current and reputable.
- 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 you are unable to find reputable sources to compile the necessary information on a specific complex inherited disease.
- Acknowledge how you feel about independently researching and preparing information on complex inherited diseases.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop, such as literature searching, critical appraisal, or information synthesis.
- Identify the specific insights you hope to gain into the clinical variability and course of different rare/complex inherited diseases and how phenotypes relate to genotypes.
What additional considerations do you need to make?
- Consider your previous experiences of literature review or critical appraisal.
- Identify what reputable sources or databases to prioritise for research, and how to organise the compiled information to make it easily accessible during consultations.
- Consider how recent developments, research or variability in international guidelines may influence your appraisal.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate whilst synthesising and analysing literature for a rare/complex condition?
- Are you encountering situations such as:
- Finding conflicting information, unexpected complexities in phenotype description, or difficulty accessing reputable sources that you hadn’t anticipated?
- Guidelines or research that contradict an established clinical finding that you planned to rely upon for the consultation?
How are you reacting to the unexpected development?
- How is this impacting your actions? For example, are you adapting or changing your approach to your search strategy, re-evaluating sources, or modifying how you synthesise the information?
- Consider the steps you are taking in the moment, such as performing an expanded search using alternative sources, approaching specialists or adjusting your appraisal criteria.
- How are you feeling in that moment? For instance, are you finding it difficult to compile the information? Is it affecting your confidence in determining what information to share with patients?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice. For example, were you able to synthesise and analyse the literature to adequately prepare for consultations? Are you needing support because the rarity of the condition necessitates specialist guidance?
- What are you learning as a result of the unexpected development? For example, are you learning about the variability in literature quality and how to scrutinise sources, or how to work with colleagues to draw on clinical expertise?
On action
What happened?
- Begin by summarising the key steps you took when synthesising and critically analysing literature for a specific rare and/or complex inherited disease or phenotype.
- Consider specific events, actions, or interactions which felt important, such as the moment you encountered conflicting prognostic data between two reputable sources, requiring critical appraisal.
- Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded, for instance, broadening your search strategy to include specialised disease databases when the initial academic literature proved sparse.
- How did you feel during this experience, e.g., did you feel challenged by evaluating the quality of information but confident in your final synthesis of the clinical presentation?
How has this experience contributed to your developing practice?
- Identify what learning you can take from this experience regarding literature synthesis and critical appraisal. What strengths did you demonstrate, e.g., meticulous adherence to searching comprehensive databases or efficient organisation of the final clinical summary?
- What skills and/or knowledge gaps were evident, e.g., unfamiliarity with a specific critical appraisal technique necessary to resolve conflicting data?
- Compare this experience against previous engagement with similar activities, has your practice improved in compiling information in a format readily accessible for consultations?
- Identify any challenges you experienced, such as needing to seek advice or clarification when the available literature was contradictory, 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, with regards to improving your efficiency and effectiveness in literature synthesis and analysis.
- What will you do differently next time you approach synthesising literature, for instance, by proactively reviewing the latest systematic review guidelines for rare diseases before initiating the search?
- Do you need to practise any aspect of the activity further, such as mastering advanced search techniques in specialised databases or key learning outcomes related to critical appraisal?
Beyond action
Have you revisited the experiences?
- How have your subsequent experiences of synthesising literature for consultation preparation since completing this specific training activity led you to revisit your initial approach or decisions during that activity?
- Considering what you understand about critical appraisal, efficiency in searching, and compiling information for complex conditions now, how have you since improved your literature synthesis practice? For example, proactively integrating a standardised critical appraisal tool (e.g., CASP checklists) to evaluate sources before incorporating them into your consultation summary.
- Has discussing difficulties in assessing evidence quality 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 in synthesising literature and performing critical appraisal experiences, contributed to your overall confidence and ability in rigorous critical appraisal and efficient synthesis of complex information?
- Looking holistically at your training journey, how has this initial literature synthesis experience, revisited with your current perspective, contributed to your development in meeting the learning outcomes related to critical appraisal? For example, how this foundational experience has supported your development in effectively preparing for consultations involving rare and complex conditions.
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. |