Screening for genetic mutations in couples before they conceive

Couples can unknowingly be carriers for genetic conditions, even though there are tests available to reveal recessive traits before conceiving.

Medicare covers genetic carrier screening for cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS).

However advocates are calling for subsidies to cover more conditions, so parents can be well informed.

Guest/s

• Rachael Casella, advocate and founder of Mackenzie's Mission
• Professor Edwin Kirk, genetic pathologist at NSW Health Pathology 

References

• Mackenzie's Mission
• Nationwide, Couple-Based Genetic Carrier Screening - NEJM
• Unlocking the secrets of your DNA - the Health Report