Training activity information
Details
Analyse and interpret results for a range of genome wide copy number assays for paediatric patients, and select appropriate reflex tests
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
- Principles of the assay
- Disease mechanism
- Best practice guidance
- Local and national guidance
- Incidental findings
- Quality control, including IQC and EQA
- Nomenclature
- Sensitivity and limitations
- Variant classification
- Local SOPs
- Health and safety
- Reflex testing options, for example Karyotyping
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 2 |
Outcome
Perform targeted analysis for patients referred with paediatric conditions. |
| # 3 |
Outcome
Perform whole genome analysis for patients referred for paediatric disorders. |
| # 4 |
Outcome
Interpret genomic variants, including copy number changes, and investigate the clinical significance of variants using bioinformatic tools using best practice guidelines. |
| # 5 |
Outcome
Interpret and report genomic testing relevant to paediatric conditions, including appropriate recommendations for patient management. |