Study Evaluating Nationwide Genetic Carrier Testing Begins Full Recruitment in Australia

Full-scale recruitment for an AUD$20 million (about $13.9 million U.S.) nationwide study to screen for severe genetic conditions has begun in Australia.

Following the results of a pilot program that tested 60 couples, the current study seeks to screen 10,000 volunteer couples for genetic variants that raise their risk of having a child with one of roughly 750 conditions.

Called Mackenzie’s Mission, in honor of Rachael and Jonathan Casella’s baby, Mackenzie, who died at 7 months of age from the severe neuromuscular condition spinal muscular atrophy (SMA), the project ultimately seeks to determine how best to deliver reproductive genetic carrier screening freely to all Australians who want it.

The study is led by three investigators: Professor Martin Delatycki, of the Murdoch Children’s Research Institute; Professor Edwin Kirk, of the University of New South Wales; and Professor Nigel Laing, of the Harry Perkins Institute of Medical Research.

Together, they intend to ensure that the data collected in the study is as useful and relevant as possible.

To that end, they have recruited assistance from general practitioners and other healthcare professionals across Australia. Couples participating in the project must be referred by these professionals, in an effort to make sure that data collected via the study accurately reflects national demographics.

Researchers will evaluate the outcomes such as the psychosocial impacts of  genetic carrier screening that couples report, ethical issues raised by such screening, and the health economic impacts of the test.

Australian Health Minister Greg Hunt has said he would like to see this in place within 10 years.

The study will test couples either before they conceive or in early pregnancy. The recruitment of pregnant couples is on hold until the additional strain on laboratories due to COVID-19 pandemic ends.

Mackenzie’s Mission is administered by national research network Australian Genomics and is funded by the Australian Government’s Medical Research Future Fund as part of the Genomics Health Futures Mission.

“This is a large, complex and ground-breaking study which requires considerable infrastructure and coordination — particularly with the testing laboratories — so it is important to ensure that all aspects are working smoothly,” professor Kirk said in a press release.