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WA exceeds pre-pregnancy testing target for severe genetic diseases

Updated: Feb 2, 2022

18/01/22 - Western Australia has exceeded its target of couples enrolled in pre-pregnancy screening in the $20m national program Mackenzie’s Mission.

The study co-led by Harry Perkins Institute of Medical Research geneticist Professor Nigel Laing AO this week exceeded its target of 1340 WA couples.

The couples were screened for more than 750 severe genetic diseases, including many that lead to death before the age of four. Rare diseases and malformations cause 51% of deaths in the first year of life.

“The couples simply undertake a saliva test which is analysed by Pathwest for genetic mutations that cause devastating diseases.

“Couples from across the State have taken up the opportunity to be screened. We’ve even had screening packs delivered by the Royal Flying Doctor Service to remote areas.

“From the results I’ve been surprised by the spread of the different disease genes we have found,”

“So far, nearly 70 different diseases have been identified for couples across the country. It’s not just the three diseases most often screened for, cystic fibrosis, fragile X and spinal muscular atrophy, but many, many more.”

“We have identified couples who individually have no genetic conditions in their family, but together carry a risk of having an affected child.

“Nearly 90 per cent of couples at risk of having babies with severe genetic conditions have no family history of the disorders, no idea they are carriers, or that they are at risk of having an affected baby.

“Many of the couples identified with a high chance of having a child with one of the diseases screened for are using preimplantation genetic testing to increase their chances of having a child without the disease they are carrying,” Professor Laing said.

Since November 1 last year, preimplantation genetic testing for these couples can be claimed through Medicare.

Mackenzies Mission is a world first nationwide program testing up to 10,000 volunteer couples.

The purpose of Mackenzie’s Mission is to determine how to best deliver reproductive genetic carrier screening at scale in Australia so that it can be offered free of charge to every couple who chooses it.

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.

Couples interested in pre-pregnancy screening should talk to their doctor.

The study is funded by the Federal Government’s Medical Research Future Fund through Australian Genomics. It will be running until 31 March 2022.


Media Contacts: Miriam Borthwick

M 0437 411 683


1 Comment

Adelaide Dupont
Adelaide Dupont
Jan 21, 2022

Great work - particularly in remote and regional areas.

Really is the cutting edge of life science.

Also good to know more about what Mackenzie's Mission is doing.

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