Genetic Screening Study Starts Recruiting Prospective Parents in Australia

An Australian project is recruiting couples planning to have children or experiencing early pregnancy for a nationwide genetic study to screen for about 750 genetic conditions, including fragile X syndrome.

Mackenzie’s Mission is an initiative named after the daughter of Rachael and Jonathan Casella, Mackenzie, who was born with spinal muscular atrophy and died after seven months.

The goal of Mackenzie’s Mission is to determine how best to offer free reproductive genetic screening. Greg Hunt, Australia’s health minister, said that he would like to see the service in place within 10 years.

With a budget of AUD$20 million (about $13.9 million US), the project follows the findings of a pilot program that tested 60 couples. Mackenzie’s Mission seeks to screen 10,000 volunteer couples for genetic variants linked to a greater risk of having a child with one of the screened conditions.

Conducted by Australian Genomics, a national research network, the study will recruit participants who are either planning to have a child or are in the early stages of pregnancy across Victoria, Western Australia, New South Wales, and the Australian Capital Territory. Notably, enrollment of pregnant women and their partners is on hold during the COVID-19 pandemic because of the additional strain on laboratories.

Recruitment will be extended to Tasmania, South Australia, the Northern Territory, and Queensland in 2021.

“We are at a pivotal and exciting stage in the study,” Edwin Kirk, a professor at University of New South Wales and one of the study’s three lead investigators, said in a press release. “After spending the past year setting up the systems and procedures for broad-scale recruitment and piloting those, we are now confident about moving to the next phase.”

Couples will have to be referred by a medical professional to participate in the study, to ensure that representative demographics data is being collected.

“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,” added Kirk.

Overall, the test will screen about 1,300 genes associated with genetic conditions that affect children and have a serious impact on quality of life. Results for each couple are expected four weeks after mouth swabs are collected.

In addition to determining the best strategy for providing free genetic screening across the country, the researchers will also be evaluating the psychological, ethical, and health economic impacts of nationwide genetic screening.