Training activity information
Details
In a consultation, using language appropriate for patients, describe how genomic variants may be interpreted, as well as the challenges and limitations of this process
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
- Current sequencing approaches
- Alignment of sequence to the reference genome
- Calling and annotating of sequence variants, including variant classification
- Filtering strategies to identify pathogenic mutations in sequencing data
- Family studies to support variant interpretation
- Approaches to determining pathogenicity of variants (population frequency, conservation of sequence, association with disease in established datasets, in silico tools and functional data)
- Use of databases
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Apply counselling skills to lead consultations involving genomic testing in complex scenarios. |
| # 3 |
Outcome
Discuss rare and complex genetic and genomic conditions with patients, tailoring communication to ensure the needs of the patient are met. |