The diagnosis of a severe genetic condition in a child can be devastating for a family.

This was the experience of Rachael and Jonathan Casella just weeks after the birth of their daughter, Mackenzie, when she was diagnosed with spinal muscular atrophy (SMA).

SMA is a severe inherited neuromuscular condition without a cure.

Jonathan and Rachael had never heard of SMA. Neither were they aware that if they’d had a genetic test before falling pregnant they would have learned they were carriers of SMA.

As ‘carriers’ of this genetic condition, Jonathan and Rachael do not have the condition themselves, but have an increased chance of having a child with SMA.

In October 2017, Mackenzie Casella passed away. She was 7 months and 11 days old. Believing no couple should face this tragedy, the Casellas launched a campaign to raise awareness of genetic carrier screening, calling for this screening to be routine and free for all prospective parents in Australia.

In the May 2018 Budget the Australian Government allocated $20 million to a research study of reproductive genetic carrier screening for about 500 severe and life-limiting genetic conditions including SMA, fragile X syndrome and cystic fibrosis.

The study was named Mackenzie’s Mission.

Read Mackenzie, Rachael and Jonathan’s story here.

[Images: Jonathan, Rachael and Mackenzie Casella]

Mackenzie’s Mission

The Australian Reproductive Carrier Screening Project.

Mackenzie’s Mission is a research project in which couples will be offered screening to identify those with an increased chance of having children with debilitating and often fatal genetic conditions. Couples will also be tested for conditions where early treatment can improve a child’s health.

During the carrier screening project, 10,000 Australian couples will be screened before they conceive or in early pregnancy.

These couples will be offered information and support to help them make informed choices about whether or not to have the test, which involves a simple mouth swab or blood test.

If they are found to have an increased chance of having a child with one of the genetic conditions they will be supported and informed about their reproductive options, enabling them to make choices according to their own values.

The project will test for about 500 recessive and X-linked genetic conditions: conditions passed on to children from parents who are ‘carriers’ of the condition but who do not have it themselves.

Researchers will evaluate the outcomes of screening, the psychosocial impacts reported by couples, the ethical issues raised by reproductive carrier screening, and the health economic impacts of this test.

They will also investigate how reproductive carrier screening should be provided as a national program, with the long-term aim of making screening free for every Australian couple who wants it.

The project will start in Victoria, Western Australia and New South Wales. It is expected that couples in these states will be able to participate in the study from late 2019. The study will then open in all other states and territories through participating health professionals in late 2020. It is scheduled to finish at the end of 2021.

Mackenzie’s Mission is the first project to be funded from the $500 million Australian Genomics Health Futures Mission - part of the Australian Government’s Medical Research Future Fund.


For all enquiries relating to Mackenzie's Mission, please contact