Reproductive carrier screening: Interpreting Fragile X and navigating results – Part 2

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1 mins

Educational Activities (EA)
These are activities that expand general practice knowledge, skills and attitudes, related to your scope of practice.

RP
0.5 mins

Reviewing Performance (RP)
These are activities that require reflection on feedback about your work.

MO
0 mins

Measuring Outcomes (MO)
These are activities that use your work data to ensure quality results.

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Description

In this episode:

  • Fragile X premutation results explained and when AGG interrupt testing matters
  • The role of genetic counselling in supporting both clinicians and patients
  • Key health implications for Fragile X carriers, including reproductive and mental health considerations
  • Navigating variation between laboratory reports and understanding their limits
  • Practical resources and referral pathways to strengthen conversations in general practice

 

Experts: A/Prof Alison Archibald, Certified Genetic Counsellor
A/Prof Marina Berbic, Genetic Pathologist
Wendy Bruce, Executive Director of Fragile X Association of Australia

Host: Dr Sara Whitburn, General Partitioner

Total time: 50 mins

 

Recommended resources:

 

Last Updated: 18 Sep, 2025

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