Training activity information
Details
Synthesise and critically analyse literature from reputable sources to compile information on the clinical presentation and course of a range of rare and/or complex inherited diseases and established clinical phenotypes, in readiness for consultations
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
- Literature sources for researching the natural history of rare diseases
- Critical analysis
- Genetic tests and test directories
- Local and national protocols
- Research projects and trials
- Patient management and treatment options
- Specialist clinics and onward referral
Relevant learning outcomes
| # | Outcome |
|---|---|
| # 1 |
Outcome
Apply counselling skills to lead consultations involving genomic testing in complex scenarios. |
| # 2 |
Outcome
Employ knowledge of patient pathways in a range of healthcare settings to contribute to the Genetic Counsellor’s expertise as part of a multidisciplinary team. |