Training activity: 2

Details

Work alongside medical colleagues to facilitate genomic testing within the diagnostic pathway, in a range of rare and complex conditions, to include:

• Pre-test counselling
• Consent discussion and recording
• Follow up
• Support following diagnosis in a mainstream setting

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

• Impact of genomics results on patient management and treatment, including potential research and trials
• Single gene, panel, targeted or open whole genome approaches in these settings
• Use and limits of genomic technologies
• Incidental findings
• Variants of uncertain significance and approaches to interpretation
• Consent
• Data sharing and inclusion of data in research
• Professional responsibilities of medical colleagues and Genetic Counsellors and limitations of practice

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.
# 3	Outcome Discuss rare and complex genetic and genomic conditions with patients, tailoring communication to ensure the needs of the patient are met.