Training activity information
Details
Select one widely used and one as-of-yet unestablished metric used for variant interpretation and explain to Clinical Scientists in Genomics how they are calculated, how to apply them appropriately for clinical use and their limitations
Type
Developmental training activity (DTA)
Evidence requirements
Evidence the activity has been undertaken by the trainee​.
Reflection on the activity at one or more time points after the event including learning from the activity and/or areas of the trainees practice for development.
An action plan to implement learning and/or to address skills or knowledge gaps identified.
Considerations
- Metrics for variant interpretation
- Validation of metrics
- Application in clinical service
- For example:
- Constraint metrics
- Predicted splicing effect scores
- Meta-pathogenicity predictors, e.g., a metric that integrates multiple annotations
- COSMIC signatures
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 are some widely used and emerging metrics in variant interpretation? How can you explain their technical details and clinical utility clearly?
- How will you deepen your understanding of different variant interpretation metrics? How will you develop your ability to explain complex bioinformatics concepts to clinical scientists? What is your current knowledge of variant interpretation metrics and their clinical application?
- Will you research both established and emerging variant interpretation metrics? Will you plan how to explain their calculation, application, and limitations in an accessible way? Have you discussed suitable metrics and your target audience with your training officer? What challenges might you face in explaining the nuances of these metrics? How do you feel about discussing variant interpretation with clinical scientists?
In action
- Which widely used and unestablished variant interpretation metrics are you choosing? What resources are you using to understand their calculation, application, and limitations? How are you planning to explain these to Clinical Scientists in Genomics in a clear and concise manner?
- Are you gathering the necessary information about the chosen metrics? Are you structuring your explanation to cover calculation, application, and limitations for each? Are you considering examples to illustrate their use?
- If you are struggling to explain a particular aspect of a metric, are you looking for alternative ways to articulate it? Are you considering the clinical context in which these metrics are used?
On action
- Which widely used and unestablished variant interpretation metrics did you select? How did you explain their calculation, appropriate clinical application, and limitations to Clinical Scientists in Genomics?
- What key aspects of the chosen metrics did you focus on in your explanation? How did you ensure that your explanation was clear and understandable to Clinical Scientists? Were there any challenges in explaining the more complex or unestablished metric? What did you learn from these challenges? How did your understanding of the metrics and your audience (‘reflect-in-action’) shape your explanation? How does the ability to explain variant interpretation metrics contribute to effective collaboration between bioinformaticians and clinical scientists?
- What other variant interpretation metrics do you want to understand and be able to explain? How can you improve your skills in explaining complex bioinformatics concepts to clinical colleagues? What specific actions will you take to further develop your understanding and communication of variant interpretation metrics? What resources or support would be beneficial for enhancing your knowledge in this area?
Beyond action
- Have you encountered new or evolving metrics for variant interpretation since this training activity? How did your understanding of established and novel metrics developed in this activity help you evaluate them?
- Have you had further opportunities to explain variant interpretation metrics to Clinical Scientists? How confident were you in your explanations?
- How will your ability to understand, explain, and critically evaluate variant interpretation metrics contribute to your role in genomic analysis and reporting in the future?
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 3 |
Outcome
Apply statistical methods to derive meaningful conclusions from data to support clinical decision making. |
| # 4 |
Outcome
Summarise results of data analysis to stakeholders. |