Training activity information
Details
Analyse and interpret the results of NGS sequencing for a panel of genes related to paediatric disorders
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
- 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
- Follow up testing
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 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. |