Training activity: 8

Details

Apply the appropriate analytical strategies for rare disease cases

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

• Filtering strategies e.g., trio analysis, inheritance based/gene agnostic and panel selection/application
• Disease-phenotype association (e.g., Exomiser or OMIM) with appropriate allele frequencies according to ancestral lineage
• National guidance for testing and rationale for selection of testing protocol
• Patient consent – what analyses are ethical
• Communication with the multidisciplinary team
• Risk of incidental findings and the impact on patients
• Storage of data in appropriate formats according to local and national standards, taking into consideration patient confidentiality
• Implications for the patient

Relevant learning outcomes

#	Outcome
# 2	Outcome Evaluate sources of information about variation in the human genome including access, application and clinical impact.
# 3	Outcome Select appropriate tools for next generation sequencing (NGS) analysis of inherited and acquired disease.
# 4	Outcome Analyse NGS data in a clinical setting applying appropriate quality control and data validation.