Genetic screening is revolutionising the way aspiring parents plan for their families, offering insights into hundreds of genetic conditions which would be parents may unknowingly be carrying. Yet, despite advancements, the availability of comprehensive testing remains limited, leaving many couples without the resources to make informed decisions.
The recent Mackenzie’s Mission project—a groundbreaking study involving over 9000 Australian couples—has shed light on the benefits of expanded reproductive genetic carrier screening (RGCS) and why it should be accessible to all prospective parents.
What the study revealed
As part of Mackenzie’s Mission, couples were screened for approximately 750 severe genetic conditions. Of the 9107 couples tested, 175 were found to have an increased chance of passing on a life-threatening genetic condition to their children.
- 75% of those couples used this information to inform their reproductive decisions, such as pursuing IVF and selecting unaffected embryos.
- Importantly, 80% of at-risk couples identified in the study would not have been flagged under the current Medicare-funded screening, which only covers three conditions: spinal muscular atrophy, cystic fibrosis, and fragile X syndrome.
The findings highlight the urgent need for broader genetic screening programs to ensure all Australians, regardless of financial means, can access comprehensive testing.
Barriers to comprehensive screening
While Medicare’s inclusion of limited RGCS is a step forward, expanded carrier screening remains out of reach for many. The expanded screening is generally only available through commercial providers and can cost in the vicinity of $400 to $800. This leaves many families. who cannot afford the comprehensive testing, without important information relevant to family planning and reproductive decisions.
Medical professionals also play a vital role in offering these screenings, yet not all practitioners routinely recommend them, leaving gaps in education, care and understanding.
Why wider screening matters
Early genetic screening can prevent heartache for families. Mackenzie’s Mission, named after Mackenzie Casella—who tragically passed away at seven months due to spinal muscular atrophy—illustrates the profound impact of this testing. Her parents, Rachael and Jonathan, were unaware of their carrier status until after Mackenzie’s diagnosis.
Their campaign has led to increased awareness of RGCS and its ability to provide couples vital information early in their journey to parenthood.
The push for a national screening program
The success of Mackenzie’s Mission has demonstrated that large-scale RGCS is feasible and embraced by couples. Researchers are now calling for the Australian government to expand Medicare-funded RGCS to include hundreds of genetic conditions, ensuring equitable access for all families.
“We are well positioned to take the next step to a national program,” said Conjoint Professor Edwin Kirk, one of the project’s leaders. “This would mean every Australian couple has the choice to undergo comprehensive screening, regardless of their financial situation.”
Medical Negligence and Genetic Screening
At The Law Office of Conrad Curry, we understand the life-changing impact that missed opportunities for genetic screening can have on families. When healthcare providers fail to recommend or properly administer genetic testing, the consequences can be devastating.
If you believe medical negligence has affected your family, our experienced team can help you seek answers and compensation. Contact us today to discuss your options.
DISCLAIMER
This article reflects the current law at the time of publication. It is intended for informational purposes only and does not constitute legal advice. The actual decisions in each case are summarised for general understanding. For specific legal guidance in relation to your situation, please consult with a qualified legal professional.
