Training activity information
Details
Interpret and report copy number variants, to include:
- Array abnormalities
- Karyotype abnormalities
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
- 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 utility in classifying/reporting variants
- Nomenclature
- Possible segregation analysis
- Familial studies
- Reflex testing
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Apply appropriate testing strategies to patients referred for paediatric disorders. |
| # 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. |