Training activity information
Details
Interpret and report sequence variants
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
- Best practice guidance
- Local and national guidance
- The range of tools/resources available to perform variant analysis
- Use and application of evidence
- Recommendations for further evidence required to reclassify variants, particularly those of uncertain significance
- Role of the multidisciplinary team and its use in classifying/reporting variants
- Nomenclature
- Familial studies
- Reflex testing
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 4 |
Outcome
Interpret genomic variants, including copy number and structural changes and investigate the clinical significance of variants using bioinformatic tools using best practice guidelines. |
| # 5 |
Outcome
Interpret and report genomic testing relevant to adult-onset disorders, including appropriate recommendations for patient management. |