Training activity information

Details

Participate in service delivery for rare disease services, to include:

  • Communication with other healthcare professionals
  • Troubleshooting of testing

 

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.

Relevant learning outcomes

# Outcome
# 1 Outcome

Triage referrals for rare disease genomic investigations.

# 2 Outcome

Perform targeted and chromosomal analysis for patients referred for investigation of rare disease.

# 3 Outcome

Interpret genomic variants to investigate the clinical significance using appropriate nomenclature.