Healthed Australia Reproductive carrier screening: GP guidance on risk and management – Part 1
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Jun 20, 2025 Join Marina Berbic, a Genetic Pathologist, and Wendy Bruce, Executive Director of Fragile X Association of Australia, as they delve into the world of reproductive carrier screening. They discuss the proactive integration of genetic testing in preconception care, emphasizing the importance of Medicare-funded panels. The conversation highlights the need for partner testing when one partner is a carrier and the implications of Fragile X results on personal health. They stress the critical role of genetic counseling and the need for healthcare professionals to support patients in understanding and managing their genetic risks.
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Basics of Carrier Screening
- Reproductive carrier screening identifies carriers of autosomal recessive and X-linked disorders to inform reproductive risk.
- A low-risk result is reassuring but not absolute, as some variants or new mutations may not be detected.
Offer Medicare 3-Gene Screen
- GPs should proactively offer the Medicare-funded 3-gene reproductive carrier screen to patients planning pregnancy.
- The screen tests for cystic fibrosis, spinal muscular atrophy, and fragile X syndrome, common conditions with significant impact.
Sequential Partner Testing Strategy
- Test the female partner first for the three gene screen; if she is a carrier, test the male partner for the same condition.
- For expanded carrier screening, testing both partners simultaneously can provide quicker couple-based risk assessment.