Competency information

Details

Within a consultation, describe the existing non-genomic diagnostic pathways within reproductive, paediatric and adult settings.

Considerations

  • Usual diagnostic tests in these settings.
  • Interpretation of non-genomic tests within the MDT to reach a diagnosis (histology, scans and clinical history).
  • Potential therapeutic advantages of a diagnosis.
  • Benefits and limitations of approaches compared to, and in combination with, genomic tests.

Relevant learning outcomes

# Outcome
# 3 Outcome Discuss very rare and/or complex genetic and genomic conditions with patients in an easy to understand format centred on the needs of the patient.