Training activity: 5

Details

Use patient history and medical records with results from genomic analysis to determine management of genetic conditions (linking phenotype to genotype)

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

• Identifying important information on the clinical phenotype and family history
• The role of medical literature in a multidisciplinary team setting to inform interpretation of variant pathogenicity
• Application of bioinformatics tools to variant interpretation and how this is applied within genetic counselling consultations
• In silico tools and literature for pathogenicity evaluation

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.