Training activity: 6

Details

Identify and interpret the consequence of a genomic variant

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

• Genomic architecture e.g., introns, exons, promoters, UTRs, splice sites and alternative transcripts
• Different types of variation e.g., missense, splicing, loss of function, gain of function, start loss, stop loss, nonsense mediated decay and multi-nucleotide
• Interpretation of variant effects
• Consequence on disease e,g., progression, treatment, penetrance etc.
• Best practice guidelines
• 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
# 1	Outcome Explain the structure of the human genome and the impact of variation on human development, health, and disease.
# 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.
# 5	Outcome Interpret and analyse various types of variants from single nucleotide variants (SNVs), through to large structural variants.