News & Events June 2, 2020

Full-scale recruitment for a $20 million reproductive genetic carrier screening study has begun in four states and territories ahead of national expansion next year.

The pilot phase of the Mackenzie’s Mission study is now complete, with couples being referred for full recruitment in Victoria, Western Australia, NSW and the ACT. The study will extend to couples in Tasmania, South Australia, Northern Territory and Queensland next year.

In a world-first, 10,000 volunteer couples will be tested to see if they carry faulty genes that give them an increased chance of having a child with a severe genetic condition. Screening is for about 750 genetic conditions.

“Following on from our research program in Busselton, where we offered carrier screening for 450 genetic conditions, we are well-placed in WA to roll-out this national program,” said Professor Nigel Laing AO, Head of the Neurogenetics Laboratory at the Perkins and one of three lead investigators for the study.

“The Busselton study, enabled us to establish the systems and procedures for broad-scale recruitment and screening,” he said.

Couples can only be referred to Mackenzie’s Mission through health professionals at sites selected to ensure the data accurately reflects the distribution of the population across Australia from capital cities to very remote centres.

Members of the study team have been recruiting GPs and health professionals at these selected sites.

The research project is administered by the national research network Australian Genomics. The three lead investigators span three states: Professor Martin Delatycki (Victoria), Professor Edwin Kirk (NSW and ACT) and Professor Nigel Laing AO (WA).

The purpose of Mackenzie’s Mission is to determine how best to deliver reproductive genetic carrier screening at scale in Australia so that it is available for free to every couple who chooses to have it. Health Minister Greg Hunt has said he would like to see this in place within 10 years.

Professor Kirk said the three-year study would involve ongoing process refinement with each of the components evaluated. Once enrolment and testing are refined, the turnaround time for results is expected to be four weeks.

“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,” he said.

More than 60 couples were tested across the three states during the pilot phase, which began last November. When fully operational, the study will test couples either before they conceive or who are in early pregnancy. (The recruitment of pregnant couples is on hold until the additional strain on laboratories due to COVID-19 is over).

The project was named after Rachael and Jonathan Casella’s baby, Mackenzie, who died at seven months from the severe neuromuscular condition, spinal muscular atrophy.