Pregnancy screening for common genetic diseases to be made free of charge

Genetic testing will be made free for couples planning a pregnancy, under an $81 million program to be rolled out by the federal government.

Cystic fibrosis, spinal muscular atrophy and fragile X syndrome are the most common inheritable genetic disorders that reduce life expectancy and about 1 in 20 people are carriers of at least one of them, with many not aware until they are tested.

The Royal Australian and New Zealand College of Obstetricians and Gynecologists recommends that information on carrier screening for genetic conditions is offered to all women planning a pregnancy.

Tests are available at a cost of between $250 to $450 per person but, from November 2023, the cost will be covered by Medicare in most circumstances.

The final decision of whether to bulk bill will be made by the provider, but diagnostic imaging has fairly high bulk billing rates, and the government estimates about eight in 10 tests will be free.

Health Minister Greg Hunt said the ability to get the test for free in most circumstances would allow people to be better informed and to plan appropriately.

About 300,000 babies are born each year and the $81 million is expected to cover the costs of tests needed over the next four years.

“This will allow thousands of Australians to undergo genetic testing without huge out-of-pocket costs and enable them to see if they are genetic carriers of disorders like CF, SMA and FXS,” Mr Hunt said.

‘There shouldn’t be a price tag on having a healthy child’

The announcement follows years of lobbying from Rachael and Jonathan Casella, after their daughter, Mackenzie Casella, was born in October 2017.

Mackenzie was diagnosed with spinal muscular atrophy, which has no cure, and she passed away at the age of seven months and 11 days.

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