Essential Insights on Reproductive Carrier Screening for GPs

• 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

Host: Dr Sara Whitburn | Total Time:58 mins

Experts: A/Prof Marina Berbic, Genetic Pathologist and Wendy Bruce, Executive Director

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