Training activity information
Details
Use patient history and medical records with results from genomic analysis to determine management of genetic conditions (linking phenotype to genotype)
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
- Identifying important information on the clinical phenotype and family history
- The role of medical literature in a multidisciplinary team setting to inform interpretation of variant pathogenicity
- Application of bioinformatics tools to variant interpretation and how this is applied within genetic counselling consultations
- In silico tools and literature for pathogenicity evaluation
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 you accurately link the observed phenotype to the identified genotype to inform management decisions.
- Discuss with your training officer to gain clarity of what is expected of you in relation to obtaining and integrating disparate data (history, records, genomic findings) into a coherent management plan.
What is your prior experience of this activity?
- Think about what you already know about reviewing patient histories and medical records, interpreting genomic analysis results, and trying to correlate them with clinical features (phenotype).
- Consider possible challenges you might face during the activity, such as obtaining comprehensive medical history, or interpreting genomic results reported prior to standard classification systems, or where the results are ambiguous.
- 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 genomic analysis reveals a Variant of Uncertain Significance (VUS) or if the genotype-phenotype correlation is unclear or deviates from that expected for the family pattern.
- Acknowledge how you feel about using this combined information to discuss potential management options.
What do you anticipate you will learn from the experience?
- Consider the specific skills you want to develop, such as integrating different types of clinical and genomic information to refine management strategies.
- Identify the specific insights you hope to gain into the variability in genotype-phenotype correlation and its impact on management decisions.
What additional considerations do you need to make?
- Consider your previous experiences of interpreting genomic data or correlating phenotype and genotype.
- Identify the specific details you will need to gather from the patient’s medical or family history to support the interpretation of specific genomic variants and link to management strategies.
- Consider whether any additional analysis is required, such as SNP scores or programmes such as CanRisk.
- Identify any relevant guidelines or resources for the condition or gene.
In action
Is anything unexpected occurring?
- Are you noticing anything surprising or different from what you anticipate whilst using patient data and genomic results to determine management?
- Are you encountering situations such as:
- A familial variant has been reclassified since it was first reported.
- The patient’s phenotype or family history does not match the expected presentation for the gene or variant.
How are you reacting to the unexpected development?
- How is this impacting your actions? For example, are you are you consulting additional resources or seeking advice from laboratory or clinical colleagues?
- Consider the steps you are taking, such as reviewing the original variant classification evidence and assessing how other family members may be impacted by this new information.
- How are you feeling in that moment? For instance, are you finding it difficult to determine appropriate management?
What is the conclusion or outcome?
- Identify how you are working within your scope of practice. For example, were you able to use the available data to determine the appropriate assessment and management? Or, was a new course of action required, such as extended testing, variant re-evaluation or clinical review? What are you learning as a result of the unexpected development? For example, are you learning about the importance of scrutinising and correlating up to date information about genotype and phenotype?
On action
What happened?
- Begin by summarising the key steps you took when integrating patient history, medical records, and genomic analysis to determine management options.
- Consider specific events, actions, or interactions which felt important, such as the moment you identified a need for review, or discrepancies between phenotype and genotype.
- Include any ‘reflect-in-action’ moments where you had to adapt to the situation as it unfolded. How did you feel during this experience, e.g., did you feel confident in reviewing records or challenged by the historic nature of some information?
How has this experience contributed to your developing practice?
- Identify what learning you can take from this experience regarding linking phenotype to genotype for management. What strengths did you demonstrate, e.g., systematic review of medical records to identify relevant phenotypic data? Understanding of variant classification process?
- What skills and/or knowledge gaps were evident, e.g., difficulty applying knowledge of complex genotype-phenotype correlations with incomplete penetrance?
- Compare this experience against previous engagement with similar activities has your practice improved in applying genomic analysis findings to management strategies?
- Identify any challenges you experienced, such as needing to seek advice or clarification on the management of reclassified or uncertain variants.
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 ability to link genomic results to patient management.
- What will you do differently next time, for instance, proactively consulting literature or guidelines that address variable expressivity and incomplete penetrance for the condition in question?
- Do you need to practise any aspect of the activity further, such as interpreting complex genomic results (e.g., structural variants) or key learning outcomes related to understanding the genetic basis of disease?
Beyond action
Have you revisited the experiences?
- How have your subsequent experiences of linking phenotype and genotype for management planning since completing this specific training activity led you to revisit your initial approach or decisions during that activity? For example, how a subsequent case involving a complex genotype-phenotype correlation (e.g., reduced penetrance or mosaicism) may have prompted you to re-evaluate the your differential diagnostic reasoning during your first attempt at this training activity.
- Has discussing the impact of cases where findings were ambiguous 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 integrating clinical history and genomic findings?
- Looking holistically at your training journey, how has this initial phenotype-genotype linkage experience, revisited with your current perspective, contributed to your development in meeting the learning outcomes related to Genotype-Phenotype correlation? For example, how this foundational experience has supported your development in clinical decision-making as genomic data becomes more extensive.
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. |