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Preconception Carrier Screening Trial Begins in Australia

Australia is launching its Mackenzie's Mission trial on Tuesday, a AUS$20 million (US$13.7 million) trial of preconception carrier testing, the Sydney Morning Herald reports

The trial, which is being administered by Australian Genomics, aims to screen 10,000 couples for conditions like spinal muscular atrophy, fragile X syndrome, and cystic fibrosis, among others, to tell prospective parents their likelihood of having a child with a possibly life-threatening childhood genetic disease. The Herald adds that couples are being recruited to the study through their primary care and other physicians, and that investigators also hope to include pregnant women who are in their first trimester, once they are sure their testing results won't be delayed due to the COVID-19 pandemic.

The effort is named after Mackenzie Casella, who had a severe form of SMA and died at seven months of age, according to SMH.

"We are extremely thankful we were able to be part of this," Liz Tierney, whose son died at a few weeks of age due to a mitochondrial disorder, tells SMH. "It is very daunting looking into the unknown, but getting tested was the best thing we could have done for ourselves, for our children and for all the generations that come afterwards."