It’s free and essential for planning a pregnancy, but few know this test exists

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Key points

• 1 in 50 couples could be at risk of passing on a serious genetic condition
• If both parents carry the gene for a recessive condition, their child has a 1 in 4 chance of being affected.
• Tests for three of the most common and serious conditions will all be eligible for bulk-billing from November 1
• Rebates will also be available for genetic testing to diagnose mitochondrial disease, reducing the need for painful muscle biopsies

Six months and one day. That is all the time Elizabeth Tierney had to spend with her “cheeky and curious” son, Cooper, who was diagnosed with a rare and degenerative mitochondrial condition at three weeks old.

“Once you have a child that has mito (mitochondrial disease), they’re going to suffer,” she said. “The best we could do for Cooper was to refuse to set his limits … and provide him with experiences and opportunities to champion him to his fullest potential.”

Elizabeth Tierney with her sons, Beau and Zane, in front of a photo collection of her first son, Cooper, who died at 6 months old from mitochondrial disease.Credit: Janie Barrett

A simple cheek swab would have identified Tierney and husband Robert as carriers of the gene causing Cooper’s condition. However, their GP did not offer them the test because they had no family history of genetic conditions.

Tierney hopes new Medicare rebates for carrier screening introduced on Wednesday will mean no other couple has to go through losing a child to discover their risk of passing on a rare condition.

Tests for three of the most common and serious genetic conditions – cystic fibrosis, spinal muscular atrophy (SMA) and fragile X syndrome – will all be eligible for bulk-billing from Wednesday, and rebates will also become available for genetic testing to diagnose mitochondrial disease (a process often requiring a muscle biopsy).

After Cooper’s death, Tierney and her husband received comprehensive testing before and during pregnancy that ensured Cooper’s brothers – Beau and Zane – were born healthy.

“It can be really scary to think you might uncover something your family might have.”

She urged all would-be parents to ask their GP about the tests.

“It can be really scary to think you might uncover something that your family might have,” Tierney said. “But once you go through something like this, you know that having that information can really be something positive.”

Couples were previously eligible for free carrier screening only if they had a family history of a serious and life-threatening condition. Otherwise, tests could cost between $300 and $2500.

Dr Zoe Case, a family planning GP at Bondi Junction Medical Centre in Sydney, said it was essential that all GPs became familiar with what was available to parents.

Rachael and Jonathan Casella with their boys Izaac (two) and Joshua (10 months), and a photo of their daughter Mackenzie who was born with spinal muscular atrophy and died just seven months later.Credit: Wolter Peeters

“If a person can’t afford to pay for a screening test, they are the least likely to be able to afford a cystic fibrosis-affected child,” she said. “Every GP should be aware of it and should be offering this to their patients.”

The new rebates are the result of a five-year, $20 million research project dubbed Mackenzie’s Mission after Rachael and Jonathan Casella’s daughter, Mackenzie, who was diagnosed with spinal muscular atrophy shortly after birth and died in October 2017 at just seven months old.

Rachael Casella said she felt “immense pride” in what had been achieved in Mackenzie’s name, but she would continue to campaign for hundreds more rare and life-threatening conditions to be added to the list.

“I do wish that I could have clicked my fingers and made it happen overnight, but I’m really thankful for the fact that people actually listened to what we were campaigning for,” she said. “What happened to us could happen to anyone – it really just depends on who you get together with.”

The Mackenzie’s Mission study estimated one in 50 couples are at risk of passing a serious genetic condition onto their children.

On average, every person carries between three and five recessive genes that may lead to a rare genetic condition.

If a couple carries the same trait-causing version of the gene, their child has a one-in-four chance of being affected by the condition.

Federal Health Minister Mark Butler said many children with genetic conditions were born to families with no history of disease, and the $148.5 million investment would “provide confidence to women and their partners as they plan a pregnancy and start a family”.

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