Virtus Genetics study reveals number of genes needed to be screened to have a healthy baby

New research has revealed the holy-grail number of genes needed to be screened for the best return for your money, and could pave the way for all couples to have free genetic screening.

Exclusive: A world-first Australian study could pave the way for all couples to have free genetic screening before starting a family.

Since November 2023, potential parents have been able to claim the cost of screening for Cystic Fibrosis, Fragile X syndrome and Spinal Muscular Atrophy on Medicare.

That test only detects up 10 to 15 per cent of all inherited serious childhood-onset conditions.

Genetic testing for other conditions are available but range from $400 to $2000 per couple.

But now new research by Australian-based Virtus Genetics, and published online today in Genetics in Medicine, has revealed the holy-grail number of genes needed to be screened for the best return for your money.

Senior author of the ‘Goldilocks study’ Professor Leslie Burnett. Picture: Supplied

“Instead of having to wait until unfortunately, a child has an illness and then to discover it is inherited, you can actually test the parents to maximise the chance of having healthy children,” senior author of the ‘Goldilocks study’ Professor Leslie Burnett, said.

“We’ve come out with the Goldilocks protocol, which looks at how to deliver the optimum number of genes in the test.

“The number is not too small so you miss things, and not too large that you are actually paying unnecessarily for really negligible extra value, but it’s just right, which is why we call it the Goldilocks.”

Prof Burnett, who said he had waited “his whole life for this moment”, said the study found screening 152 genes will detect 90 per cent of people who are carriers for a genetic condition; 248 genes will detect 95 per cent; 531 genes will detect 99 per cent and 725 genes will detect 99.7 per cent.

It is expected that the study will lead the Government to eventually expand its Medicare rebates to cover more conditions.

“I imagine the Government will eventually come through and do its health economic studies … and will nominate some figure that Medicare is prepared to fund,” Prof Burnett said.

Olivia Moffitt and Manolet Torreno re in the process of using IVF because of Ms Moffitt’s family history of Fragile X Syndrome. Picture Jeff Darmanin

Olivia Moffitt, 27, and her partner Manolet Torreno, 28, are currently going through the six week gene mapping process, which involves blood tests from them and relevant close relatives, like Ms Moffitt’s mum.

The disability support worker said she discovered she was a carrier of Fragile X syndrome, which causes physical and mental disability and can lead to early menopause, when she was a child. It was passed down on her father’s side.

Once the mapping has been completed, she will undergo IVF and the embryos will be screened.

“I felt I had no choice but to do this,” Ms Moffitt, from Sydney, said. “Like a lot of people I thought IVF was something only older people dealt with when struggling with infertility. But for us, it’s not about fertility, but genetics.

“I want to have a healthy baby.”

Dr Shadi Khashaba, fertility specialist at IVFAustralia. Picture: Supplied

The whole process is expected to cost $30,000.

Dr Shadi Khashaba, fertility specialist at IVFAustralia which is helping Ms Moffitt and Mr Torreno through the genetic testing process, said they were seeing an increasing number of people without fertility issues wanting IVF to avoid passing on genetic conditions.

Dr Khashaba said the results of the study will improve tests and “give parents the confidence when they start their family that they’ve done what they could to reduce the chances of passing on genetic conditions to their children”.

Originally published as Virtus Genetics study reveals number of genes needed to be screened to have a healthy baby