Training activity: 6

Details

Analyse, interpret and report the results of cases referred due to a family history of a genomic condition, to include:

• Segregation analysis
• Targeted molecular tests

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

• Principles of the assays, including sequencing, MLPA and chromosome analysis
• Best practice guidance
• Local and national guidance
• Quality control, including IQC, and EQA
• Nomenclature
• Interpretation of results
• Variant classification
• Reflex testing options
• Disease mechanism
• Test sensitivity and limitations, including mosaicism, and maternal cell contamination
• Impact of confined placental mosaicism and fetal mosaicism on diagnosis
• Local SOPs
• Local format for reporting
• Health and safety
• Segregation analysis and risk estimation

Relevant learning outcomes

#	Outcome
# 3	Outcome Apply appropriate testing strategies to patients with a family history of a genetic disorder.
# 4	Outcome Interpret chromosomal rearrangements, including implications for recurrence risk and future testing.
# 5	Outcome Interpret genomic variants, including copy number changes and investigate the clinical significance of variants using bioinformatic tools using best practice guidelines.
# 6	Outcome Interpret and report prenatal genomic findings, including appropriate recommendations for patient management.