Reproductive carrier screening: GP guidance on risk and management – Part 1

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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:

  • Reproductive carrier screening (RCS) should be proactively integrated into preconception care
  • The 3-gene, Medicare-funded panel screens for cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS)
  • A low-risk carrier screening result is reassuring, but not absolute
  • Partner testing is essential when a patient is identified as a carrier
  • Fragile X results may have implications for the patient’s own health
  • Genetic counselling and clear documentation are critical components of care
  • Healthcare professionals play a critical role in supporting patients to understand and manage RCS and its implications

 

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

Host: Dr Sara Whitburn, General Partitioner

Total time: 58 mins

 

Recommended resources:

 

Last Updated: 20 Jun, 2025

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