In 2017, baby Mackenzie sadly passed away from spinal muscular atrophy (SMA) at seven months of age.
The tragic passing of Mackenzie led her parents on a mission to ensure all families planning a pregnancy could access free, routine genetic carrier screening.
After years of lobbying, The Mackenzie's Mission project to expand genetic carrier screening across Australia has become a reality for SMA.
From 1 November 2023, two new Medicare Benefits Schedule (MBS) items were introduced for genetic reproductive carrier testing for cystic fibrosis (CF), spinal muscular atrophy (SMA) and fragile X syndrome (FXS).2
The new items support testing in all Medicare eligible individuals who are pregnant or are planning a pregnancy, and their reproductive partners, to determine their reproductive risk of having a child affected by one of the three conditions.
1. Record funding to support 800,000 women with endo and new genetic tests available, Australian Government Department of the Prime Minister and Cabinet — PM Transcripts, https://pmtranscripts.pmc.gov.au/release/transcript-43886. Accessed June 2025.
2. MBS Online (November 2023). Available at: http://www6.health.gov.au/internet/mbsonline/publishing.nsf/Content/news-2023-11-01. Accessed June 2025
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